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Concept and Definition of Genetics

The word “GENETICS” is derived from ‘genesis’ meaning creation, to become, or the
way in which something is formed; and it was coined by Batson in 1906. Genetics may be
defined as the science of heredity and variation which deals with resemblances and differences
among individuals related by descent. Heredity means the similarity which progeny shows to its
parents, and provides for the organic continuity between generations while variation deals with
the differences and similarities exhibited by individuals in the progeny. In other words heredity
constitutes a way of biological preservation whereby parental characteristics continue from
generation to generation. The resemblance expressed by new born places a confidence in the
heredity of that family. Wheat grains will produce wheat seedlings and puppies grow into dogs
and never into cats. The general growth and development pattern of the off-spring in the Living
organisms, resembles that of their parents so closely that the inheritance of characters becomes a
matter of fact. Heredity is, therefore, the genetic continuity between the parents and the
offsprings, and thus preserves a race by developing progeny in the parental image.

Variation

There are billions of peoples living on this earth; no two of them are exactly alike.
Members of the same family and, in some instances, even the identical twins are different from
one another for many characters such as complexion, body size, intelligence, voice etc. They
show differences although they share common parentage. This is deviation from the heredity and
is called variation. The variation present in the various characteristics of the members of the
same race or a group of closely related individuals may arise due to change in the gene structure,
new combination of genetic factors or change in the environment. Heredity and variation are
common attributes of all biological organisms, and the science of genetics deals with the study of
these two phenomena.

Heredity and environment

Heredity-the force of preservation of the ancestral characters generation after generation-

determines fundamental biological patterns and the ultimate development of a character is the
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product of its heredity and environment. Some of the traits are influenced more by the
environment than others. A change in environment, therefore, may change the expression of a
trail but such a change will only persist for the life-time of that individual and should not be
expected to e transmitted to its off-spring.

Environment is of two types, i.e. internal and external. The internal environment includes
the cell contents within which lies the heredity material (chromosomes), while the external
environment comp rises extracellular conditions, e.g. soil, climate and similar other factors. As
we have said before, environment exerts vital influence, on the development of a character. For
instance, if the whole body hair of a Himalayan rabbit (white body except the tips of feet, nose
and ears) are removed and new hair allowed growing under cool temperature, it will be black. On
the other hand, if the hair from the black part (i.e. ear tips) is removed and that part is kept warm,
the new hair that grows will be white. This shows that hereditary factors responsible for the
production of black pigments in the Himalayan rabbit produce their effect only in cool
temperatures.

To cite another instance, there is a maize variety Sun red, in which the outer husk of the
cob develops red color in the presence of sunlight. The portion of husk emerging at night or in
the dark is green and the one growing in the sunlight is red.

HISTORY OF GENETICS

Genetics has been developing as a vigorous science since the beginning of the twentieth
century. We find in the literature on the history of biology that speculations on the nature of
heredity are as old as the history of mankind. An old Babylonian tablet dating back to 6,000 BC
shows the pedigree of a large number of successive generations of horses. Stone carvings of the
same period illustrate cross pollination of the date palm. The early Chinese are known to have
made considerable improvements in the varieties of rice. It is believed that most of the common
domestic animals and plants were brought in the service of man before the beginning of the
recorded history.
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Sexual reproduction and hybridization

Camerarious (1764), a German Professor, was the first to describe sexual reproduction in
plants. He is also credited with the production of the first hybrid plant artificially. Later,
Kolreuter performed experiments on artificial hybridization on tobacco varieties and studied
their hybrids. Schleiden and Schwann (1838) first recognized the cell as a unit of structure and
function and propounded the theory that the new cells arise only from the pre-existing cells. Stras
burger and Hertwig (l875-1885) found that only a single sperm is required to fertilize an egg.
They suspected that the nucleus of the cell was the basis of heredity and that male and female
gametes took equal part in the transmission of heredity.

Before Mendel, various scientists tried to solve the mystery of heredity; views of some of
them are summarized below:

Preformation and epigenesis

In 1679, Swammerdam claimed that he was able to see in the human sperm under his
crude microscope a miniature of man which he named ‘homunculus”. He believed that man’s
body was performed in the sperm and that during the embryonic stage, only the growth of
different organs to a full-size baby occurred. Bonnet who believed more in egg cell than sperm
differed with this theory only slightly. He advanced his own theory called “egg encapsulation or
box theory”, which held that the female contains all the germ cells of her immediate and remote
progeny, and that Mother Eve in her ovary had the germ cells of all the men to be born. With
some improvement in the microscope, Wolf (1733-1794) and Von Baer (1792-1876) studied the
structure of sex cells carefully and discovered nothing like homunculus or the little man but
observed that cells were composed of structure less fluid. They replaced the idea of preformation
with epigenesis. According to this idea, the process of development involved both male and
female sex cells and that a vital force was responsible for the formation of organs in the
embryonic stages.
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Inheritance of acquired characters

The Greek philosophers thought that ‘be inherited characters of the individuals were
acquired through direct contact with the environment. This idea first materialized into a theory
advanced by a French biologist, Lamarck (1744-1829) who emphasized an animal’s desire to
determine its need. The desire in turn, would determine the use or disuse of the body parts and
this selective use and disuse would bring about modification of that organ. The modification so
induced in the parents by the environment was believed to be imprinted upon the germinal
material (egg and sperm) and was thus transmitted to the offspring. According to Lamarck,
variations are induced in the organism upon germinal material. To support this idea he cited
instances of the long neck of giraffes to secure food from tall trees, absence of eyes of fish living
in dark caves under the sea, webbed feet of frogs, etc. The present knowledge of the germinal
material and the developmental processes in plants and animals, however, do not support
Lamarckism.

Darwin’s hypothesis of Pangenesis

In the mid-nineteenth century Charles Darwin tried to figure out the pathway of heredity
in a very interesting manner. He proposed that each body cell produced its rudimentary copy,
which he called pangene or a gemmule. These gemmules were supposed to be delievered in the
animal’s blood stream ultimately to reach the germinal tissues (ovary and testicle), where the
gemmules obtained from all body cells form gametes. A gamete so Synthesized had all the cells
of an organism in rudimentary form which would develop into a full-fledged new individual;
thus heredity was Supposed to be due to the gemmules representing blueprints of different body
organs. This hypothesis was rejected by Galton (1822-1911) during the lifetime of Darwin. He
transfused blood of a black rabbit into the body of a white rabbit and expected a progeny of black
and white from it, in accordance with Darwin’s theory. But he did not obtain the expected
results.

Germplasm theory

Weismann, a German biologist (1834-1914), conducted his famous experiment on mice

to show the difference in body tissue and gerrnplasm. He cut the tails of mice for 22 generations
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and observed that the progeny in the 23rd generation still had normal tails. He believed that the
reproductive tissue (germplasm) is quite separate and distinct from the body tissue
(somatoplasm). No emphasized the remarkable stability of germplasm which is transmitted
unchanged from generation to generation. Somatoplasm is a product of germplasm and,
therefore, any change induced by the environment on the body cciii cannot be transmitted to the
germinal tissue. Acquired characters are not inherited because germplasm is the only channel
through which heredity is earned to the offspring. Of all the theories discussed heretofore, this
theory comes closest to the Mendelian concept of heredity.

PROBLEMS

1. Define heredity and explain its basis in detail.

2. List some human characters which are easily influenced by the environment and those which
are not.

3. Make a list of some of the characters of domestic animals which you think are controlled by
heredity.

4. How will it help the geneticist to improve a race, assuming that the acquired characters are (a)
inherited (b) not inherited?

5. What were the factual bases of the theories of inheritance of acquired characters, epigenesis,
preformation, pangenesis and continuity of germplasm?

6. A boy refuses to marry a girl whose father, grandfather and great grandfather all died of
tuberculosis. Comment on his thinking.

7. If a character is transmitted only through mother, which part of the female gamete (cytoplasm,
nucleus) do you think will carry the factor responsible for this inheritance?
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The Cell, Cell Division and Cell Reproduction

The Cell

The cell may be defined as a piece of nucleated cytoplasm surrounded by a cell wall (in plants)
or a membrane (in animals). A group of cells called a tissue. The theory was first formulated by
Schneider and Schwann in 1838. According to their theory, the cell is the structural unit of living
organisms and that new cells arise from the pre-existing cells.

A cell is composed of living and non-living parts; the various parts of a typical cell are briefly
described as follows

(a) Non-living: Protective membrane or cell wall and vacuole.

(b) Living: Protoplast structurally differentiated into nucleus or nucleoplasm and

cytosome or the cytoplasm.

(a) Non-living Parts

(i) cell wall: Non-living ,a protective structure deposited by the cytoplasm surrounding the living
material, permeable or semi-permeable,

(ii) Vacuole: Present mostly in plant cells and less so in animal cells, frequently serves as a store
for non-living substances such as, minerals starch, food particles and other by-products of
metabolic activity of the protoplasm; such substances are called inclusions.

(b) Living Parts

(i) Nucleus: It is the most conspicuous, and essential part of the cell, globular in structure,
centrally located in a young cell, but in older plant cells it usually attains a peripheral position, it
has its own organization as given below: \

(1) Chromatin: Deeply staining appear threadlike during interphase but during cell
division appears organized as chromosome which are the carriers of hereditary information.
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(2) Karyolymph: Except chromatin, the rest of the nucleus is filled with nuclear sap or
karyolymph. It is a Stain-resistant material.

(3) Nucleolus (Pl. nucleoli): Darkly-staining, round body, one or more found in a
nucleus, visible in interphase and early prophase of the cell division, supposed to act as organizer
for nuclear material.

(4) Chromosome: The chromosomes known as the nuclear bodies have their own special
organization; they are capable of self-reproduction during the cell division and maintain their
morphophysiologjcal properties during the life cycle of an organism. The chromosomes, their
behaviour, equational distribution at mitosis and reduction in their number during meiosis were
adequately understood before the discovery of Mendel’s work. Chromosome is a Latin word
meaning “the coloured body” which in the natural stage is colourless but can take colour, when
stained with some specific dyes (Carmine, basic fuchsin etc.) particularly during the process of
cell division. They lie within the nuclei of the living cell except for a short time during cell
division when the nuclear wall disappears. The chromosome number remains constant from
species to species; the body cell maintains the diploid number (2n) while the sex cells have
haploid number (In) where the number is reduced to one half in the process of gamete formation.
The chromosomes also change in shape and form during the various phases of cell division. Such
changes are cyclic and at the end of each cell division the original form of the chromosome is
restored. Each chromosome can be distinctly recognized due to its definite form and
morphology. Salivary gland chromosomes of the fruit fly, by virtue of their large size, are called
giant chromosome

(ii) Cytoplasm: Bounded by plasma membrane from outside and similarly by membranes
of nucleus and vacuoles from inside, chemically complex, storehouse for various enzymes and
cannot live long without nucleus. Plasmagenes and cytogenes are believed to be equivalent to the
nuclear genes; these are self-duplicating,

(iii) Mitochondria: Very small structures, visible by special techniques, mostly round or
rod-like in shape: they lie free in the cytoplasm but usually aggregate near the nucleus and
increase in number by simple division.
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(iv) Golgi bodies: Present only in the animal cells and in the cells of certain lower plants,
absent in higher plant cells, appear as a continuous network of strands; they are conspicuously
present in secretory cells.

(v) Plastids: Three main types are recognized:

(1) Chloroplasts: develop green colouring pigments.

(2) Leucoplasts: colourless in plant rafts not exposed to light.

(3) Chromoplasts: develop yellow and orange pigments. They increase in number
by simple division.

(vi) Centrosome: Present in many animals and lower plant cells, lie near nuclear
membrane, darkly-staining, granule present in the centre, gives out asters during cell division,
divide into two during cell division and assume polar positions.

Cell Division

Two types of cell divisions occur in the life cycle of a living organism and they are,

(i) Mitosis (ii) Meiosis.

1. Mitosis:

Throughout the development of an individual from the zygotic stage up to its maturity,
the individual grows by mitosis, which may be defined simply as an equational cell division.
When a cell divides by mitosis into two daughter cells, the chromosomal components equally
distribute to die two resulting daughter cells. This equational distribution is achieved through
four phases of mitosis, namely, (1) Prophase, (2) Metaphase, (3) Anaphase and (4) Telophase
which are briefly described below:
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Prophase

The chromosomes shorten in length and get thicker, each chromosome appears double
stranded as if split longitudinally into two chromatids held by the centromere; the nucleolus
evident in the beginning disappears during late prophase.

Metaphase

The chromosomes shortened to the maximum, orient themselves on the equatorial plate in the centre
of the cell; the spindle fibers appear and the centromeres get attached to them
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Anaphase

The centromeres split and move towards the poles, pulling each of the two chromatids to
the opposite pole. As a result, each pole receives an identical group of daughter chromosomes
the chromosomes have now divided equationally.

Telophase

Each chromatid attains the status of an individual chromosome, the nuclear wall
develops. The chromosomes again elongate to become threadlike and disappear from view to
enter interphase. With the completion of the telophase, the mitotic division is complete,
producing a new cell which is a precise copy of the original cell.

2. Meiosis:

Meiosis, on the other hand, occurs in the life cycle of an indIvidual, a plant or an animal,
only when it has attained complete differentiation and development of its reproductive organs.
Unlike mitosis, meiosis is not eqautional in nature but reductional. That is, it of chromosomes to
half the original number. For instance, if the dividing cell has 20 chromosomes as in maize, the
resulting daughter cells at the end of rneiosis will have 10 chromosomes each. Meiosis results in
the germ cells (gametes) having half the chromosome number characteristic of that individual.
The union of male and female gametes, each having the haploid number of chromosomes, restore
the characteristic chromosome number, which may be diploid, tetraploid or of a still higher
order.

Meiosis consists of two successive division cycles, which may be called Division I and
Division II. Division I has a relatively prolonged prophase followed by the same phases as
described for mitosis. At the end of Division I, the number of chromosomes in the two resulting
daughter nuclei is halved. These two daughter nuclei undergo Division II, Whichin its
mechanism and operation, is like mitosis, and further divides these nuclei into two cells each,
and this time the number of chromosomes is not halved but remains the same as at Division I.
Meiosis in its various phases may be briefly described below:
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A. Meiosis I (Division 1)

1. Prophase:

Sub-divided into five or more phases.

(a) Leptotene. Cell size (meiocyte) relatively larger than Surrounding somatic cells;
chromosomes long thread like and slender, beadlike structures (chromosomes) on the
chromosomes are identified

(b) Zygotene. Homologous chromosome synapse lengthwise each chromosomes into two
chromatids and the tetrad condition develops.

(c) Pachytene. Chromosomes shorten and thicken but are still threadlike; homologous
closely attached to one another, a1ready synthesized chromatids start separating longitudinally,
relational coiling occurs, nucleolus clearly seen.

d) Diplotene. The four chromatids tetrad open out, start repelling each other but remain
connected at certain points called chiasmata singular (chiasma), chromatids exchange
corresponding portions by cross-over, chromosomes further shorten due to tightening of coils.

(e) Diakinesis. The chromosomes further shorten to about one tenth of their length in the
leptotene stage, deeply stained pairs may assume typical configuration, nucleolus generally
disappears.

2. Metaphase:

Nuclear membrane disappears and spindle fibres appear, chromosomes orient themselves
on to the equatorial plate and centromeres lie along the a of the spindle.

3. Anaphase:

Chiasmata between the paired chromosomes are released and each dyad (the two sister
chromatids all original or comprising a crossover) migrates towards any of the two poles;
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chromatids areheld on together by undivided centromere. Reduction of chromosomal

complement is completed.

4. Telophase:

Chromosomes arrive at the poles, two new daughter nuclei with haploid number of
chromosomes are formed; is the reverse of prophase; reduction is completed quantitatively, but
not necessarily qualitatively.

The two newly formed nuclei enter interphase, rest for a while in some cases before
second meiotic division starts. The four stages of the second part of meiosis (Meiosis I) are
completed in quick succession.

B. Meiosis II (Equational Division)

1. Prophase:

The chromosomes regain threadlike structure, which thicken and shorten as the stage
advances; chromatids of the dyads are attached to the centromere, each chromatid may be
qualitatively different from its mate depending upon whether or not crossing has occurred.

2. Metaphase:

Chromosomes move on to equatorial plate, spindle fibers appear and are attached to the
centromeres.

3. Anaphase:

Centromere divides, chromatids separate, each becoming an independent chromosome,

segregating to the two poles.

4. Telophase:

Chromosomes reach the poles; lose their identity, nuclear membrane reappears (reverse
of prophase). The end product in plants is a four-celled structure, (quarter) each individual cell
results into gametes as explained below:
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Reproduction:

The sex cells thus formed will become reproductive cells after certain modifications. In
animals they are directly transformed into functional gametes, whereas in plants they go through
a gametophytic phase which then forms the true gametes. The cells in which meiosis is initiated
are called primary meiocytes, and the cells resulting from the Division I of meiosis are the
secondary meiocytes. If a primary meiocyte produces spores (in plants) it is called sporocyte,
i.e., primary microsporocyte and primary megasporocyte and the phenomenon is known as
sporogenesis. If a primary meiocyte produces sperms or eggs (animals) it is called primary
spermatocyte and primary oocyte, respectively, and the phenomenon is termed gametogenesis.
These processes of gamete formation are now described below:

1. Gametogenesis in animals

(a) Spermatogenesis (Spermiogenesis). Sperm (male gamete) is produced in the male

reproductive Organs: through meiotic division as already explained. A cell of the reproductive
tissue, the spermatogonium, enlarges in size and therein meiosis is initiated. The cell is called
spermatocyte. This undergoes the first meiotic division to produce two secondary spermatocytes
with half the chromosome number and as a result, four spermatids are formed. The spermatids
are immotile, an develop tails and thus become motile. A functional, active spermatids is called a
sperm (male gamete)

(b) Oogenesis (Ovagenesis). The female gamete in animals is the egg which has a large
size than the male gamete (sperm) because it contains mechanism of cell division is precisely the
same as described before except that the size of the cells produced at the first and second meiotic
divisions is conspicuously variable. The oogonium prior to the reductional division (meiosis)
enlarges in size and is called primary oocyte, which divides (first reduction division) to form
one-large secondary oocyte and one small size cell the first polar body. The difference between
the two is in size only (cytoplasm) while the nuclear contents are essentially equal. The
secondary oocyte (ovacyte) further divides into two cells of unequal size. The largest one
becoming the egg and the smaller the polar body also divides into two polar bodies of equal size.
The end product is therefore four cells three are polar body which are not sexually functional and
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the fourth one fourth one is the egg cell which functions as the female gamete without any
further changes.
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2. Gametogenesis in plants (Sporogenesis)

The process of gamete formation in plants is not as direct as animals, because in plants an
alternation of generation is involved that is, the gametophytic stage follows the sporophytic
stage. The sporophyte forms spores through reduction division, which do not function directly as
gametes, but first develop a gametophyte which in turn forms the sexual gametes. In higher
plants the gametophytic phase is very short-lived. A description of gametogenesis is given
below:

(a) Microsporogenesis (Formation of microspore). During the developmental process of

anthers the microsporocyte undergoes reductional division and four microspores or pollens
(pollen grains) are formed. Pollen germinates on the stigma, and its nucleus divides by
equational division into two nuclei; one nucleus, which is round in shape is the tube nucleus and
guides the development of pollen tube. The other one somewhat elongated, and with dense
cytoplasm, is the generative nucleus. This gain divides into two nuclei which function as the
male gametes (sperms). The development phase represented by the pollen tube along with its
three nuclei constitutes the male gametophyte (micro gametophyte).

(b) Megasporogenesis (Formation of megaspore). One cell out of the nucleus tissue from
within the ovule of a ovary (megaspore mother cell) enlarges in size to undergo reduction
division (meiosis). The product of meiosis is four megaspores arranged in a linear order. The
lower three megaspores which are small in size disintegrate and the fourth
one increase in size to form embryo sac, and develops into two; one moves to the micropylar end
and other to the chalazal end. There each nucleus undergoes mitotic divisions giving rise to four
nuclei at each end. One nucleus each from the two ends moves towards the centre, where both of
them fuse to form a 2n endosperm nucleus. The three nuclei on the chalazal end, called the
antipodals develop cell wall around them and in most plant species degenerate after fertilization.
At the micropylar pole, the large-size central nucleus is the “egg” and the two lateral ones are the
synergids. The egg functions as female gamete.
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Fertilization

The pollen-tube pierces through the style of the gynaeceum and enters the ovule through
the micropylar end. The pollen-tube ruptures and the two male gametes are released; one
fertilizes the egg cell to form 2n embryo or the zygote and the second male gamete fuses with the
endospermic nucleus. The 3n tissue forms the endosperm which serves as reserve food material.
Since for the deve1oping embryo the two male gametes released by the pollen tube are
simultaneously used in fertilization within the ovule, this process is called double fertilization.

PROBLEMS

1. Which part of the cell do you think is more important from genetic viewpoint and why?

2. Do you think that different plant organs have different chromosome number?

3. The somatic (2n) chromosome number of maize is 20. What is its gametic number? How
many chromosomes are there in the pollen grain, the egg, the endosperm, the root tip, aleuronic
layer and testa?

4. What will happen to the chromosome number and the resulting gametes, if the second division
fails to occur during the meiotic process in a common wheat plant?

5. How does the process of gamete formation in animals differ from that in plants?

6. In what way does the division of cytoplasm differ from that of the nucleoplasm in a plant cell
undergoing meiosis?

7. The (2n) chromosome number in man is 46. What is the chromosome number in (a) primary
spermatocyte (b) secondary spermatocyte (c) spermatid (d) sperm (e) polar body (f) red blood
cells?

8. In a normal process of spermatogenesis, how many sperms, secondary spermatocytes and

spermatids will be formed from 100 primary spermatocytes?

9. A mature pea pod contains six viable seeds. What could be the number of pollens used during
fertilization to produce these 6 viable seeds?
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10. How does reduction division (meiosis) differ from somatic cell division (mitosis) in plants?

11. Why is the prophase longer in meiosis than mitosis?

12. Plants and other higher living organisms grow, develop reproduce by cell divisions. Of the
two types of cell divisions, i.e., meiosis and mitosis, could it be that one is more important than
other?
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Mendelian Inheritance

We have seen in our discussion of gametogensis (sporogenesis) that the gametes or the
spores produced by the maturation process essentially have the haploid chromosomes number.
While the male gamete (sperm) is mainly composed of chromosomes, the female gamete, (egg)
possesses cytoplasmic material in addition to the chromosomes. The union of these two gametes
initiates a new individual, whose subsequent growth is guided by the genetic information
contained in the chromosomes in the form of genes. A diploid 2n organism has a double dose of
a gene whereas a haploid (n) has a single dose. It is the genes arranged in a linear fashion on the
chromosomes which are passed along with the chromosomes from generation to generation and
determine the limits of growth of an individual. The chromosomes thus being the carriers of
genes are

Brief life sketch of Mendel

Gregor Mendel (1822-1884), who is called the father of genetics, was born in a poor
farmer family of Austria. After completing education up to secondary school, he joined a
monastery during 1843, and on his 25th birthday he became a monk. Mendel conducted
hybridization work on various plants, i.e., snapdragon, pumpkin, flax, bean, pea, plum, pear,
maize, etc. He was sent to Vienna University during 1851 to study science and mathematics. On
his return to Brunn (1854), in addition to his duties as priest, he was appointed a substitute
teacher in a school. He collected garden pea seed from the market during 1857 and started
regular hybridization work and was thus able to present his results before the History Society of
Brunn in 1865. The results were published in 1866 and were sent to various countries. His work
remained unnoticed for a period of 34 years. In 1900 three biologists, Correns, deVries, and
Tschermak read Mendel’s forgotten paper and also obtained the similar results from their own
experiments.

Mendel’s choice of pea plant was not a mere chance, but was based on these facts: (i)
many pure-breeding pea varieties were available

(ii) floral structure and mode of pollination in pea ensures self-o1linatjon and (iii) hybrids are
fertile. He finally selected the following seven easily recognizable contrasting character:
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No. Character Dominant

1. Tall versus dwarf vine Tall

2. Green versus yellow color of unripe pods Green

3. Inflated versus Constricted pods Inflated

4. Axillary versus terminal flowers Axillary (Axial)

5. Yellow versus green endosperm (Cotyledon) Yellow

6. Round versus wrinkled seed surface Round

7. White versus grey seed coat Grey

Mendel made several crosses of pea plants having contrasting characters to find out how
the hereditary elements behaved while passing from parents to offspring. We shall consider here
only one or two of the several experiments that he performed.

For instance, Mendel crossed a tall pea plant with a dwarf one and observed that all the
resulting hybrid plants (F1) were tall. The F1 plants were self-fertilized to produce F2 seed which
was planted to study the behavior of the F2 generation. Mendel noted that of all the F2 plants, 3/4
plants were tall and 1/4 plants were dwarf.

It may be pointed out here that the outward expression of a character later came to be
referred to as “phenotype” and the complex of genetic factors controlling this expression as
“genotype”. We may now write the above cross genotypically using symbols as follows.

Parents x (Tall) TT, tt (Dwarf)

Gametes T, T : t, t,

Combination of (female)

and male gametes produces F1 Tt (Tall)

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F1 generation.

On selfing, two types of gametes (pollens and ovules) are possible from Tt plant and they are T
and t. The random union of the male T and t with the female T and t will produce the F2
generation as follows:

Male gametes T, t

Female gametes T, t
---------------------------------

TT, Tt

Tt tt
-------------------------------

Genotypes in F2 ITT 2Tt 1tt

Phenotypes being 3 Tall: 1 Dwarf

The same combinations be obtained by the checker-board can method as:

Male gametes

½T ½t

Female gametes ½ T ½ TT ½ Tt

½t
½ Tt ¼ tt

F2 phenotypic ratio: 3 tall : 1 dwarf or 3/4 tall : ¼ dwarf

F2 genotypic ratio: 1 tall (TT): 2 tall (Tt) : 1 dwarf (tt)

or ¼ (TT) : ½ (Tt) : ¼ (tt)

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When Mendel selfd these F2 plants, he observed that the dwarf plants, which were ¼ of
the total F2 population, produced all dwarfs, while out of the ¾ tall plants, produced all tall and
2/3 produced both tall and dwarf plants: that is precisely what was expected from the genotypes
contained in the F2 population above.

Law of Segregation

All other 6 characters behaved in the similar manner in crosses. From this, Mendel
formulated his first law of inheritance: the law of Segregation or Mendel’s first law of
inheritance. It states that heredity characters are determined by some particular factors (genes)
these factors occur in airs and at the time of gamete formation segregate at random so that only
member of a gene pair is transmitted to a particular gametes

Dominance

The other important phenomenon which Mendel discovered was that of dominance. He
noticed that the hybrids (F1’s) between tall and dwarf were all tall like the tall parent, although it
also inherited the dwarf factor. The factor which dominated the effect of the other allele in the F1
was designated by Mendel as dominant and the alternative factor that remained latent in F1 as
recessive. He showed the dominant characters but the use of capital letters and the recessive by
small letters while explaining his results.

Note: In crosses, it is not essential for one character to behave always as dominant, since
situations midway between the two parents are also obtained in F1.

Mendel’s law of segregation and its explanation

Mendel’s first law of inheritance is the law of segregation, which explains the behaviour
of alleles of a gene pair in a diploid organism at gamete formation. According to this law, the
two alleles which may be identical or dissimilar i.e. AA, aa or Aa segregate by going to different
poles in meiotic divisions and thus end up into different gametes. Note that segregation of alleles
occurs during the meiotic divisions.

Consider a cross between two true-breeding plants. One of them is tall and the other
dwarf. Because both of them are diploid, each has a pair of alleles. The tall one has both the
 24

alleles, T, T and the dwarf one has both its alleles, t, t. The gametes which they will produce will
have one allele only as the number is reduced to one half. We shall get a gamete of T constitution
from one parent and a gamete of t constitution from the other. They reunite and their reunion is
called fertilization. The new plant produced by the union of T and t will be Tt. This means that
the new hybrid plant has two alleles but they are not alike, as one of them is T (for tallness) and
the other is t (for dwarfness). If the hybrid plant is tall, we will be able to say that the character
tallness controlled by T is dominant over the corresponding contrasting character, dwarfness,
controlled by t. Further, when this hybrid plant Tt matures and forms gametes, the two alleles T
and t, carried on the two homologous chromosomes, cannot stay together, because the
homologous chromosomes must go to the opposite poles in meiotic division and so will the two
contrasting alleles. This going of the two alleles to the opposite poles in meiosis provides the
mechanism for segregation of the alleles of the same gene pairs. Consequently, two types of
gametes, T and t are formed by the hybrid plant in its male and female reproductive organs.
Their reunion will produce these off springs 1 TT: 2 Tt: 1 tt, as explained earlier.

From this discussion, it is apparent that the two alleles remain together in a diploid
individual and segregate when that individual forms gametes and again come together in various
combinations when male and female gametes unite to produce new individuals.

Mendel’s second law of inheritance or Mendel’s law of independent assortment

We may now consider two characters together as to their behaviour in inheritance. For
instance, Mendel crossed a tall plant having axillary flowers with a dwarf plant having terminal
flower. Character dominance is indicated on page 18. As before, T and t represent tallness and
dwarfness, respectively, and let A and a represent axillary and terminal flower positions,
respectively.

We may write the cross genotypically as follows:

Parents TTAA (tall axillary), ttaa (dwarf terminal)

Gametes TA ta
 25

F1 TtAa (tall with axillary flowers)

The F1 plants will produce these four types of gametes TA, Ta, tA, ta, in equal
proportion. The four types of gametes will be male as well as female and their random union will
produce 16 combinations in the next generation (F2).

Female gametes 1/4 TA +1/4 Ta + 1/4 tA + 1/4 ta.

Male gametes 1/4 TA + 1/4 Ta + 1/4 tA + 1/4 ta
------------------------------------------------------------------------------------------
1/16 TTAA + 1/16 TTAa + 1/16 TtAA + 1/16 TtAa
1/16TTAa + 1/l6TTaa + 1/l6TtAa + 1/l6Ttaa
1/16 TtAA + 1/16 TtAa + 1/16 ttAA + 1/16 ttAa
1/16 TtAa + 1/16 Ttaa + 1/16 ttAa + 1/16 ttaa

These sixteen combinations for the dihybrid cross can also be calculated by the checker-board
method:

F1 TtAa
Gametes TA, Ta, tA, ta
Male gametes
TA Ta tA ta

TA TTAA TTAa TtAA TtAa

Female Ta
TTAa TTaa TtAa Ttaa
Gametes tA
TtAA TtAa ttAA ttAa
ta

TtAa Ttaa ttAa ttaa

Mendel noted that all F1’s were tall with axillary flowers where from he confirmed that
tall was dominant over dwarf and axillary flower over terminal flower and that out of these 16
combinations of the F2, 9 were all with axillary flowers, 3 were tall with terminal flowers, 3 were
 26

dwarf with axillary flowers and only one was dwarf with terminal flowers. it may be seen that, as
the 9 tall,. axillary-flowered plants have at least one T and one A, these show both the dominant
characters, 3 have T but no A they show one dominant character, the other 3 have A but no T,
and they. show the other dominant character, one has neither T nor A but is ttaa and is double
recessive.

Explanation. It will be noticed that when the hybrid plant, TtAa, matures, it forms four
types of gametes (pollens as well as ovules). T and t are the two members of an allelic pair and
gametes are formed as a result of meiotic divisions whereby the two alleles must segregate. In
the case of the hybrid plant TtAa, T and t must segregate, i.e they must not be present in the
same gamete and. similarly, A and a must segregate and go to different gametes. But while the
two members of a given allelic pair must segregate they do so independently of the members that
is, if T goes to one pole, either A or a of the allelic pair Aa, can go with T to the same pole. So
the resulting gamete (pollen or ovule can have T with A (TA) or T with a (Ta). Similarly, the
gamete produced at the other pole can have t with A (tA) or t with a (ta).

Accordingly, this plant, TtAa, must produce four types of gametes, i.e., (TA), (Ta), (tA)
and (ta) in equal proportion. This is actually what the plant does.

The production of these four types of gametes in equal numbers is possible only if the
two gene pairs, Tt and Aa assort independently of each other. This phenomenon is called
“independent assortment” of characters, the Second Mendelian Law. If the four types of gametes,
male as well as female, unite at random in the process of fertilization, 16 F2 combinations as
shown above should be possible.

Back-cross and Test cross

When F1 hybrid is crossed with one of its parents, it is called a backcross;

when the cross involves the recessive parents it is called as test cross. We may remember that the
F1 hybrid between Mendel’s tall and dwarf pea plants were all tall, which may be crossed with
dwarf recessive (tt) parent to form a test cross. The hybrid tall parent (Tt) would produce equal
number of T and t gametes and the dwarf being homozygous should form only one type of
gametes, i.e., t. Half the ovules of the genotype, T when fertilized by t pollen will produce Tt
 27

plants and the other half ovules of t genotype fertilized by t pollen produce tt plants. A definite
ratio of 1/2 tall and 1/2 dwarf plants would thus be obtained. The 1:1 ratio based on theoretical
calculations was confirmed by Mendel through such experiments. Mendel clearly demonstrated
that the characters are determined by particulate factors which do not blend with or contaminate
one another during the course of their transmission from generation to generation.

Similarly, results from a dihybrid situation were also tested by Mendel. He crossed
yellow round with green wrinkled plants to be symbolized genotypically as YYRR & yyrr,
respectively. The F1 hybrid would be YyRr (yellow-round) which when backcrossed to double
recessive yyrr parent will result in four phenotypes in equal number, i.e., Yellow- round YyRr;
yellow wrinkled Yyrr; green round yyRr; and green wrinkled yyrr (Dihybrid test cross ratio l.:l
:1:1).

This proved that:

1. The factors responsible for character expression are particulate in nature.

2. Segregation of factors takes place which shows that they do not blend with one
another.

3. Grouping or the assortment of the factors is random during the process of gamete
formation.

4. 1/4: 1/4 : 1/4 : 1/4 test cross ratio proves that all types of gametes were produced in
equal number and that they had an equal chance for union amongst themselves.

Blending theory

Before Mendel’s work on hybridization was duly recognized, the “Blending theory”
enjoyed popular support as the basis of inheritance of characters in living organisms. According
to this theory, heredity determinants were fluid like which would always produce a blended
expression of the characters of the two mating individuals. For instance, offspring must all be
grey, which cannot be separated again in black and white in the progeny.
 28

Particulate theory

Mendel contradicted the above idea by showing from his experimental evidence that the
determiners of heredity are individual particles, which, in various combinations, can produce
numerous shades of expression of a character and that these determinants are separable unaltered
at the time the individual forms gamete. This theory is called the particulate theory of inheritance
and is now accepted as valid.

Resume of Mendel’s Experiments on Pea

Mendel made experiments on the pea using seven different contrasting characters. He
selected pea plant as his experimental material because of the following advantages that the pea
plant offered him:

1. Crossing was easy.

2. The characters were easily distinguishable.

3. The hybrids were fertile and easily mutually crossable

4. Due to special floral structure, contamination from foreign source was avoided.

5. Their culture was easy.

From his extensive data Mendel developed the following formula, which illustrate how
fast the hybrid nature of a population disappears.

Segregating generations Genotype Ratios

AA Aa aa AA Aa aa
1. 1 2 1 1: 2: 1
2. 6 4 6 3: 2: 3
3 28 8 28 7: 2: 7
4. 120 16 120 15 2: 15
n. --- --- --- 2n -1: 2: 2n-1
(The Formula 2n-1:2:2n-1)
 29

Conclusions:

1. Characters are controlled by hereditary determiners (Genes).

2. These determiners (genes) can be dominant or recessive.

3. The genes segregate at the time of gamete formation (they do not get blended).

4. All possible combinations of genes occur in the gametes (Independent assortment).

5. The male gametes combine at random to produce off springs showing all possible
combinations of character.

Reasons for Mendel’s Success

1. His choice of the pea plant was excellent: the plant was self- pollinated and, therefore, high1y
homozygous, was easy to culture and to cross; contamination of’ the crosses from the foreign
pollen was avoidable due to its specials floral structure.

2. Mendel started with simple experiments involving only one character difference and then
proceeded with more complicated ones involving more than character, making careful analysis
of his data and testing his theoretical expectations.

3. He made use of mathematics to explain the biological behaviour of the factors determining
character expression.

4. He was lucky that the characters he studied were not linked, otherwise he might have had
difficulty in explaining the character variation not conforming with his hypotheses, as he had no
knowledge of genes being located cm the chromosomes.

Reasons for slow acceptance of Mendel’s work

1. Some well-known scientists would have no confidence in Mendel’s interpretation of the basis
of inheritance, since they did not think Mendel was qualified enough to do that.

2. The results of some of the other scientists (Nagli’s work on hieracium) were not in conformity
with those of Mendel
 30

3. Mendel used mathematics to explain his results, whereas other scientists did not use this type
of approach in the study of biological material.

4. Mendel was a kind of genius and a. little ahead of his time. His contemporaries were ill
equipped to understand him.

Intermediate dominance

In our previous discussion on Mendelian inheritance, we observed that in the F1, one
from of the character was dominant over the other. During later investigations, this
generalization did not hold good showing expression intermediate between the two parents were
observed. Where dominance exists, a single dose of the dominant gene produce same effect as a
double dose, but in case the dominance is incomplete the two alleles in the hybrid conditions (F1)
interact expression more or less intermediate between the two origin the character. In a cross
between red-flowered (AA) and white (aa) snapdragons, the flower colour of F1 (Aa) is pink, i.e.,
i between red and white. This seems a sort of blending between the original colours. When the F2
was grown, segregation occurred in the usual proportion of 1/4 red AA; 1/2 pink Aa; 1/4 white a
actually a modification of the monohybrid phenotypic ratio (shows that gene (A) alone is not
sufficient to produce red fib but the intensity of the red colour is reduced to pink when allelic
constitution is (Aa). The segregation of the original colours showed that the heredity material did
not blend in F1. A backcross between the red and pink Aa produced 1/2 red and 1/2 pink and the
back cross white (aa) and pink (Aa) will produce 1/2 pink and 1/2 white. that the characters are
controlled by the particulate substances which segregate from one another uncontaminated.

Take another example: Some varieties of snapdragons leaves; others have narrow leaves.
In a cross between broad (BB) and narrow (bb) leaved varieties the F1 (Bb) has intermediate
leave segregation of 1 broad (BB): 2 intermediate (Bb) and 1 narrow plants i obtained. When
flower colour and leaf shape together i.e., the variety with red flower and broad leaves crossed
with the white flower and the narrow leaf variety aabb; the F1 had pink flowers and intermediate
leaves. The F2 segregated into 9 distinct phenotypes as follows:

1 AABB red broad :2 AaBB pink broad :2 AABa red intermediate: 4 AaBb pink
intermediate : 1 AAbb red narrow : 2 Aabb pink narrow aaBB white broad : 2 aaBb white
 31

intermediate : 1 aabb white i Each phenotype corresponds to a genotype. Here 9:3:3:1 are
modified to 1:2:1:2:4:2:1:2:1.

Physical basis of Mendelian inheritance

Mendel had no knowledge of the existence of chromosome rediscovery of Mendel’s

work, attributing inheritance of characters particulate factors (now called genes) inspired
scientists to explain nature of these factors. They argued that in order to be heredity determiners
these particulate factors must possess the following attributes:

1. They should be continuous from one cell division to another.

2. They should be present in pairs in diploid organism separate out into different gametes
at the time of gamete formation (segregation).

3. Each should have its op individuality and differ qualitatively from the other.

4. They should be capable of random reunion at the fertilization process.

In 1902 Sutton and Boveri put forth the chromosomes theory of heredity which correctly
answered the above questions. According Sutton-Boveri hypothesis, genes (determiners) are
present on the some in a linear order. The chromosomes exist in pairs in the organism (2n) and in
the haploid organism the chromosome are reduced to one half the original number (n) (Mendel’s
law of segregation Members of homologous pairs of chromosomes separate or segregate each
other during meiosis their diploid number is restored at fertilization. Two chromosomes carrying
different genes assort independently original mates (homologues) depending upon the way they
reorient themselves on the metaphase or equatorial plate (Mendel s independent assortment). It is
just a chance that the paternal and the maternal sets may go in original combination or may form
new combinations. It will be noted that the behaviour of the chromosomes conforms that of the
Mendelian factors (genes) and are, therefore, the physical basis of heredity. There is a close
parallelism between the two things and the chromosomes. To emphasis this fact once again
repeated that:
 32

1. Genes exist in pairs, because chromosomes, which carry them exist in pairs.

2. Genes segregate at meiosis, because of the fact that chromosomes segregate.

3. Genes assort at random, because of the fact that chromosomes assort in this fashion.

4. Genes recombine during fertilization process combinations because chromosomes do

so

Some useful formulae

1. Number of kinds of secondary meiocytes =2n

2. Number of kinds of gametes =2n

3. Number of kinds of genotypes =3n

4. Number of kinds of phenotypes

(i) When dominance is incomplete =3n

(ii) When dominance is complete =2n

5 Number of kinds of homozygotes =2n

6. Number of kinds of heterozygotes =3n-2n

7. Number of kinds of gametic combinations 4n

where n-Number of heterozygous gene pairs.

PROBLEMS

1. What are the two most important laws of genetics that you have studied so far? Who
formulated them and succeed in enunciating these laws while others more qualified than him did
not?

2. Biologists of Mendel’s time did not appreciate his work because he was a mere priest. Do you
think they were right in snubbing him like that?
 33

3. Suppose that Mendel’s work was not to be discovered Do you think somebody, else in that
case might have p these laws round the turn of the century?

4. The F1 plants between two different homozygous varieties always uniform. Will you regard
these F1’s as homozygous?

5. In linseed, purple flower colour (P) is dominant flower (p). Write a cross between two such
homozygous parents. What will be the F1 and F2 phenotypes? Backcross the above F1 to either
parent. What phenotypes will you get and in what proportion?

6. Mendel performed two separate experiments to laws. Was it not possible for him to explain
both from one experiment only?

7. In tomato, the fruit skin may be hairy or smooth between the two smooth and hairy varieties pr
smooth fruits. Intercrossing of the F1 plants produced 174 hairy and 520 smooth textured fruits.
How is skin texture inherited?

8. What types will be produced if F1 plants in the problem were crossed with smooth parent,
hairy parent?

9. In summer squashes, white fruit is due to dominant and colored fruit to its recessive allele
(w). Disk-shaped is due to a dominant gene (D) and roundish fruit to allele (d). Make a cross
between homozygous varieties having white, disk fruit and the other coloured Raise F2
generation. How many different genotypes and phenotypes do the squash plants have with
respective and fruit shape? What will be the proportion of double recessive and double dominant,
plants in F2?

10. In pea, green cotyledon colour (YY) is dominant colour (yy) and red flower colour (RR) is
dominant (rr). Make out the genotypes and phenotype following cross combinations:

(a) RRYY x rryy

(b) RRyy x rryy

(c) RRYY x rrYY

(d) RRyy x RRYY

 34

(e) RrYy x rryy

(f) RrYY x rryy

(g) RrYy x RRYY

(h) Rryy x rryy

11. In cattle, the F1 offspring between red and white are roan (intermediate) and absence of
horns (polled) is dominant horned character. A horned red bull is mated polled cow
(homozygous for horn character). The offspring are mated to raise the F2 generation. Figure out
and phenotypes of the expected second generation individuals.
 35

Inheritance of Simple Mendelian characters in Man and Lethal Genes

The laws of segregation and independent assortment which Mendel formulated on the
basis of his work on pea are valid not only for peas and other plants but also for animals and
human beings. It is not possible to use humans as a breeding material, so it takes longer
observations on the expression of human characters to verify that human heredity follows the
same principles as other living beings. We shall discuss heredity of a few human characters here:

1. Inheritance of albinism

An albino individual is one which completely lacks pigment all over his body. This
condition behaves like a simple Mendelian character and may be recessive while non-albino is
dominant and can be homozygous and heterozygous, i.e., AA or Aa, if a denotes the gene for
albinism.

2. Inheritance of taste blindness

Phenyl-thio-carbamid (PTC) has an intensely bitter taste, but to some individuals this
substance has no taste. It was found that 70 percent of the American white people are “Tasters”
and the remaining 30 percent “Non-tasters”. The ability to taste is a simple Mendelian trait and is
governed by a single dominant gene, say T gene. The genotypes of the “Tasters” can be
homozygous (TT) or heterozygous (Tt) and of the “Non-tasters” (tt).

3. Inheritance of eye colour

The eye colour (iris of eye) has three division: (i) blue (ii) brow (iii) b1ack. The
inheritance of this character is simple in most people but it may be more complicated in others.
In the case of simple inheritance, the blue eye behaves as recessive to the dark eye (usually
brown. Other intermediate shades of eye colour, green, greenish gray, hazel, etc are also found
and it is difficult to explain the heredity of eye colour as a simple qualitative character.
 36

4. Inheritance of MN blood group

Using immune sera against the blood of different persons beings can be classified into 3
blood groups called M.N. and MN, respectively. The red blood cells of persons with M blood
type carry an antigen called M antigen and these cells can be agglutinated with a Similarly, N
blood type can be agglutinated by anti-N serum MN blood type can be agglutinated by both anti-
M and anti-N sera.

The inheritance of these blood types is simple Mendel N blood types are due to the
presence of M and N genes dominant. The heterozygous (MN) will have MN-type, MM-type
will have M-type and NN will have N-type of blood.

Phenotype and phenocopy etc.

In our previous discussion on genes and characters, we frequently used the two terms
genotype and phenotype. As define earlier genotype is the sum total of genetic factors which an
organism inherits from its parents for a certain character; individuals of the same genotype breed
alike, and they produce similar type of gametes. Phenotype describe the observed character of an
individual without any reference to its genetic constitution. Members with the same phenotype
may not breed alike, because they may have different genotypes. In Mendalian inheritance in a
cross of tall (TT) and dwarf pea plants (tt) the F1 is tall genotype is different from TT genotype
but both have the same phenotype as both are equally tall.

Phenocopy

Another term is Phenocopy, which should not be phenotype. Sometimes it is possible to

bring about phenotypic changes by changing the environments. These apparently seem similar to
those caused by genes as a result of mutation. The normal body colour of Drosophila fruit fly is
light brown. Due to a mutation, flies with yellow body colour are also produced. If the normal
pupae (brown) are fed on silver nitrate salt, their colour yellow. This silver nitrate induced
yellow is genotypically the same as the normal type, but their phenotypes are different. The
silver yellow types are the phenocopies of the true mutated yellow types will produce only
normal types (brown) when interbred, whereas mutated yellow flies will always produce yellow
progeny.
 37

Lethal Genes

The expression of all minor and major traits in living organisms is controlled by genes.
Genes which control the development (traits, such as the development of the brain or any other
major character are more important for a normal function and are regarded as major genes. On
the other hand, genes which control less ir traits, e.g., production of hair on the second segment
of fingers minor genes. The absence of, or change in, minor genes may not adversely affect the
vitality of the individual as do the major genes.

When a major gene is missing or is replaced by a mutated may cause the death of the
individual. The genes which exert such a drastic effect on the organism as to kill it are called d
lethal genes. In some cases bases, the effect of these genes is dominant and or immediate,
homozygous individual for it dies. in the early embryonic stages after birth, while in the other
cases, the effect may be delayed to permit organism to live for some time it is not necessary that
the lethal always cause death; it may handicap the carrier individual in some important
physiological activity. If this handicap could be overcome artificially, such individuals can
successfully perform their life functions. Albino seedlings (lacking chlorophyll) in maize and
barley are mutant lethal gene, and are incapable of synthesizing their own food. If fed on suitable
nutrient media, they can grow normally and set seed. Similarly, certain hereditary human
diseases are controlled by medicines now days.

Let us take another instance. In poultry, gene ‘C’ is responsible for the development of
short crooked legs (creepers). This crooked abnormality puts the creeper birds at a disadvantage
to compete the normal birds. When two creepers are inter-crossed, a ratio of 2 creepers and 1
normal is obtained instead of the usual 3:1 explained below:

Parents creeper x creeper

Gametes Cc Cc
C, c C, c

C c
 38

C
CC Cc
c
Cc cc

Genotypes 1CC: 2Cc: 1 cc

Phenotypes dies creeper normal

When the creepers are back-crossed to the normal bird test cross ratio of 1 creeper and 1
normal is obtained. From these results two conclusions emerge: firstly, the creepers are
heterozygous gene ‘C’, i.e. they are Cc and secondly, the missing class is the dominant
homozygous class CC. Study on the embryology of the creeper normal chicken has shown that
the mutant gene C cause retardation of growth, and the leg abnormality is most conspicuous.
Dominant homozygous zygotes die during the first week of incubation.

When crossed to a normal, a creeper will produce half normal and half creepers as
follows:

Parents Cc cc

Gametes Cc, c c

C c

c Cc cc

Genotypes 1 Cc : 1 cc

Phenotypes Creeper Normal

Recessive lethal genes are carried in a heterozygous condition and show their lethal effect
when a chance mating between such individuals occur to produce homozygous recessive
 39

individual. In maize other crop plants, albino mutation is mostly lethal, since it checks the
chlorophyll development, without which the plant cannot perform its photosynthetic activities.

A normal green maize plant = AA

Mutation for albinism occurs in one allele = Aa

(phenotypically not distinguishable from a normal green plant)

Carrier for albinism when crossed will produce normal plants in the 3:1 ratio as follows:

Parents Aa x Aa

Gametes A, a A, a

A a

A AA Aa

a
Aa aa

Genotypes 1 AA : 2 Aa : 1 aa

Phenotypes Normal Normal Albino

PROBLEMS

1. A woman and her husband have normal skin pigment children, a girl and a boy are albino.
What are the albino children and of the parents?

2. Both the albino persons from the above problem ma pigmented people and produced children
as follows:

(a) All the children of the albino woman were normal

 40

(b) Half the children of the albino man were albino pigmented.

What are the genotypes of the normal persons?

3. A taster woman both of whose parents were t--------Non-taster man and they had four
children, two tasters, and two non-tasters, Work out the genotypes of the family.

4. A brown-eyed man marries a woman whose eyes are also brown. Can they expect a blue-eyed
baby? If so, illustrate you giving genotype of each.

5. What is a lethal gene? Give an example to show how a modifies the F2 phenotype ratio of 3:1.

6. How can a lethal gene stay in a population’? Do you this gene is always dominant or
recessive?
 41

EPISTASIS

The Expression and Interaction of Genes

We have already discussed the Mendelian laws of (i) segregation and (ii) independent or
random assortment of genes in the previous chapter. To properly understand the basis of these
two laws, we can acquire a clear concept of the process of meiosis. Reduction of chromosome
number is also of the genes carried on them, takes place during meiosis. Segregation of genes
means the separation of the allele’s gene pair through the separation of the homologous
chromosomes, while independent assortment of genes refers to segregation of the member one
pair of genes regardless of the members of the other gene pairs.

The phenotypic F2 ratio is 3:1, when the individuals crossed in only one gene pair
(monohybrid) and one of the two character forms dominant. The F2 phenotypic ratio is 9:3:3:1,
when the difference between the two crossing individuals is in the nature of two gene
(dihybrid) and dominance is involved in both the characters. phenotypic ratio of 9:3:3:1 implies
that a total of 16 possible combination resulting from the random union of 4 types of male and
female gametes produce only four phenotypes; 9 of them show the double dominance phenotype
(A-B-), 3 show one dominant and one recessive character (A-bb); 3 show the other dominant
character and the recessive (aaB--) whereas only one has a phenotype representing both the
recessive characters (aabb). It must be borne in mind that 9:3:3:1 ratio is dependent the following
facts:

(i) The difference between the two parents is of two independent

gene pairs which determine mostly two different characters

(ii) Dominance is involved in both the characters.

(iii) The assortment of the genes controlling the two characters independent of each other.

(iv) The union of the gametes is random.

If these conditions get disturbed, the usual F2 phenotypic ratio 9:3:3:1 will also be upset.
For instance, if the two gene pairs involved a dihybrid cross control expression of only one
 42

character instead of the two gene pairs must be present to produce the given phenotype absence
of the one or the other results in the non-expression phenotype and the 9:3:3:1 ratio will change.

So far, we have emphasized that a character is controlled pair of allele, and the crosses
involving contrasting character segregation into definite Mendelian ratios. It has been, however,
observed that in some cases more than one gene pair may be essential expression of a particular
character and the same is also true inversely a single pair may affect more than one character. In
the development of a character, there may be many genes involved, interacting in a manner. The
phenomenon of interaction of non-allelic genes modifies dihybrid Mendelian ratio. In the usual
dihybrid ratio of 9:3:3:1, classes may add up together on the basis of their phenotypic similarity
but the number of total combinations remains the same, i.e., 1 change occurs only in the number
of the phenotypic classes.

I. Modification of the 9:3:3:1 ratio by the lack of dominance

In snapdragons, a pair of alleles controls the expression colours i.e. RR produces red
colour, Rr produces pink and rr white. Similarly, there is another pair of alleles affecting leaf
shape that BB produces broad leaves, Bb intermediate and bb narrow. When RRBB is crossed
with rrbb, the F1 will consist of pink intermediate leaved plants and in the F2 will be obtained this
ratio i.e., 1:2:4:1:2:1:2:1. This is a modification of 9:3:3:1 ratio dominance is absent.

II. Modification of the 9:3:3:1 by epistasis

Sometimes, it so happens that the genes which are non-allelic, but affect the same
characters of an organism, show interaction in same way as the effect of the recessive genes is
masked by its dominant allele. When a non-allelic gene exerts a dominant influence over
another, the dominating gene is said to be epistatic and the gene whose effect is repressed is
regarded as hypostatic. This phenomenon is called epistatic. It may be noted that dominance
involves allelic genes, while epistasis involves non-allelic genes. The interaction may take the
form complementary gene action, supplementary gene action or an inhibiting action on the part
of one of the genes. Several modifications 9:3:3:1 ratio representing the various types of gene
interaction: briefly discussed here under:
 43

(1) 9:3:4 ratio (recessive epistasis). To produce a black rat dominant gene must be
present R.C; cc produces albino and is epistatic to R.

Parents (Black) RRCC x rrcc (albino)

Gametes (RC) (rc)
F1 RrCc (All black)
RrCc x RrCc (Cross Fl amongst themselves)
F2 9 R-C- black
3 Rcc albino
3 rrC- cream
1 rrcc albino
16

The ratio is 9:3:4 and is a case of recessive epistasis.

(2) 12:3:1 ratio (Dominant epistasis). In summer squash to produce yellow coloured
fruit, Y gene is essential. In some white varieties W gene is epistatic to Y gene. The epistatic W
gene does not allow the hypostatic gene Y to produce yellow colour. Yellow colour appears
when W is absent and Y gene alone is present. Both white yellow fruit colours are dominant over
green.

Parents (White) WWYY x wwyy (green)

Gamete WY wy
F1 WwYy All white
F2 9 W-Y- White
3 W-yy White
3 ww Y- Yellow
1 ww yy Green
16

The F2 ratio is modified to 12:3:1 due to dominant epistasis.

(3) 9:7 ratio (duplicate recessive epistasis). In daisy, there are two yellow flowered
varieties which are genetically different; the gene producing yellow color e.g., P in one is
 44

different from the gene producing yellow color R in the other. The recessive alleles are epistatic.
When both the independent dominant genes are brought together by crossing they produce
purple color:

Parents (Yellow) PPrr x ppRR (Yellow)

Gametes (Pr) (pR)
F1 PpRr (Purple)
PpRr x PpRr
F2 9 P-R- Purple
3 P-rr Yellow
3 ppR- Yellow
1 pprr Yellow
16

The F2 ratio is modified to 9:7 and the genes involved here are complementary. Genes
which are similar in phenotypic effect when present in different individuals, but produce a
different expression y interaction on coming together are called ‘complementary genes’.

(4) 15:1 ratio (duplicate dominant epistasis). When two factors affect the same charact
and the dominant allele of each acts as epistatic. This case may be illustrated by an example from
the poultry.

Parents (Feathered shanks) FFSS x ffss (Unfeathered)

Gamete FS fs
F1 FfSs Feathered shanks
F2 9 F-S- Feathered shanks
3 F-ss Feathered shanks
3 ff S- Feathered shanks
1 ffss Unfeathered shanks

16

The F2 ratio is modified to 15:1. Two identical pairs of genes with the same expression present in
one individual are called duplicate genes.
 45

(5) 13:3 ratio (dominant and recessive epistasis). An inhibiting gene is generally
assumed to have no effect of its own but only inhibits function of another gene. In poultry, White
Leghorn birds are genetically coloured birds but they are unable to develop colour because along
the coloure gene C they also possess an inhibitor gene I.

The white plumage in White Plymouth Rocks is recessive coloured plumage.

Parents (White Leghorn) IICC x iicc (White Plymouth Rocks)

Gametes IC ic
F1 IiCe White
F2 9 I-C- White
3 I-cc White
3 iiC- Coloured
1 iicc White
16

I gene is epistatic (inhibitor) to C gene which develops coloure where I is absent. The F2
ratio is changed to 13:3.

(6) 9:6:1 ratio (factor interaction). In summer squash A and B genes are essential to the
production of disc-shaped fruit. When A gene is separately present in different individuals each
produces round-shaped fruit. Their recessive alleles a and b interact to develop elong fruit shape.

Parents (Round fruit) AAbb x aaBB (Round fruit)

Gametes Ab aB
F1 AaBb Disc-shaped fruit
9 A-B- Disc
3 A-bb Round
3 aaB-
1 aabb Elongated
16
 46

III. 9:3:3:1 ratio resulting from factor interaction

The walnut comb shape in poultry birds results from the interaction between the two
independent dominant genes R and P, which present in different individuals, produce rose and
pea combs, respectively

Parents Rose RRpp x rrPP (Pea)

Gametes Rp rP
F1 RrPp Walnut (interaction between dominant alleles)
F2 9 R-P- Walnut
3R-pp Rose
3 rrP- Pea
1 rrpp Single (Interaction between recessive alleles)
16

Two things may be noted: (i) the F1 resembles neither parent nor (ii) 1/16 I, birds have a
new comb shape (single) not present parents and the F1 These are the products of factor
interaction.

PROBLEMS

Note: In poultry, gene R alone produces rose comb, while responsible for the pea comb. R and P
together produce walnut comb and their recessive alleles pprr single comb.

1. What phenotypic ratios will be obtained from the following?

(a) PPRR x rrpp

b) RrPp x Rrpp
(c) RrPp x RrPP
(d) RrPp x rrPP
(e) RrPp x rrPp
(f) RrPp x RRPp
(g) RrPp x RRPP
 47

2. Determine the genotypes of the parents in the following four problems:

(i) A walnut rooster crossed with a pea-combed hen produced half of the chickens walnut and
half with pea combs.

(ii) Both the male and the female bad walnut combs and their progeny segregated into 618
walnut and 2/8 rose.

(iii) A walnut-combed male crossed with a pea-combed hen produced these off springs:
3/8 walnut, 3/8 peat 1/8 rose and 1/8 single.

(iv) A rose comb crossed with a pea comb produced half walnut and half rose.

3. Work out the test cross ratios for various modifications of dihybrid ratios you have studied.

Note: In the pea plant C and P genes together produce purple flower colour while individually
each produces white flower.

4. What will be the flower colour of the plants result from following crosses?

(a) CcPP x ccpp

(b)CcPP x ccPP
(c) CcPP x ccPP
(e) CcPP x CcPP
(f) CcPP x ccpp

5. Determine the genotypes of the parents in the following three problems:

(i) A horticulturist made a cross between a purple and a white plant to obtain 3/8 purple
and 5/8 white plants.

(ii) In another cross between purple and white the segregation observed was 1/2 purple
and 1/2 white.

(iii) Two purple flowered plants were crossed and the progeny into 6/8 purple and 2/8
white.
 48

6. Why did Mendel not mention factor interaction in his dihybrid pea crosses?

7. What is the difference between epistasis and dominance your answer with a suitable example.

8. What are the differences between Mendel’s dihybrid ratio and the 9:3:3:1 ratio obtained from
a cross between the rose combed and the pea combed birds?
 49

Multiple Alleles

We have been talking a great deal about “alleles” and by now clear understanding of the
meaning of the gene and its alleles must have been acquired. A gene can exist in several
alternative forms. These alternative forms are called alleles. Alleles occur in pairs, and are locate
chromosomes. Although, in the diploid individuals, only two alleles are present, it does not mean
that there are only these two alleles for a particular character. There can be more than two alleles
of a gene; as many as 20 or even more in some cases are reported in the literature. These sets of
alleles are called “Multiple alleles”.

Every new allele arises as a result of gene change (mutation) somewhere in the ancestral
line. It will be interesting to note that if there have been no mutated genes, it would have been
rather impossible to determine the genetic basis of inheritance of characters. Members of an
allelic series affect almost the same trait. The criteria for the identity of a multi allelic series are
(i) the heterozygote should phenotypically resemble either of the parents or be intermediate
between the two parents and (ii) alleles must segregate out into separate gametes producing 3:1
or 1:2 phenotypic ratio in the F2 generation.

Members of the same multiple allelic series are conventionally designated by the same
basic letter symbol and each allele being identified by a specific superscript or subscript.
We shall now consider a few cases where more than two alleles have been reported:

(i) Rabbits have several alleles for their coat colour. The coat colour may be:

1. Full colour (grey or black body) (CC).

2. Chinchilla (traces of yellow lacking) cch cch

3. Himalayan (only extremities are coloured and the rest of the body white) (ch ch)

4. Albino (no colouring at all)

The existence of these four alleles for coat colour in rabbits can be confirmed by making
crosses between any two of them and obtaining typical monohybrid ratio. This is how they
behave in such crosses:
 50

Cross I
CC x cc (albino)
F1 Cc-- (all coloured)
F2 3 C- (coloured)
1 cc (albino)
Cross II
(coloured) CC x ch ch (Himalayan)
F1 Cch (all coloured)
F2 3 C- (coloured)
1 ch Ch (Himalayan)
Cross III
(Himalayan) CC X ch ch (albino)
F1 ch c (all Hamalyan)
F2 3 ch - (Himalyan)
1 cc (albino)

From these data it is clear that three different form in rabbit are determined by the three
alleles of the gene ft (coat colour). Full colour is dominant over Himalayan and albino;
Himalayan is dominant over albino. Crosses of these individuals with the ones having chinchilla
is recessive to full colour have shown that chinchilla is recessive to full colour, but dominant
over the other two, i.e, Himalayan and albino.The four rabbit colours for their phenotype and
shown as under:

Phenotype Genotype
Full colour CC, Ccch, Cche, Cc
Chinchilla cch cch, cch ch, cch c
Himalayan ch Ch, chc
Albino cc

Similarly, in the drosophila, the colour of eye which is a sex-linked character is

controlled by many alleles. Quite a large number of shad of the eye colour may be observed,
each dependent upon a separate allele. There may have been reported more alleles for the eye
 51

colour in drosophila. Red eye colour is the wild form, and is dominant over all the other alleles,
while different combinations among the mutated forms show intermediate dominance.
Phenotype Genotype

Red WW
White ww
Wine ww ww
Coral wco wco
Blood wblwbl
Eosin we we
Cherry WCh WCh
Apricot wa wa
Buff Wbf Wbf
Tinged wt wt
Ivory wI wI
Pearl WPWP
Honey wh wh

Blood groups in man

When a foreign substance called antigen (protein) is introduce the body, it stimulates a
reaction resulting in the formation of antibodies in the blood serum. Antibodies are a type of
protein, and when protein react with the antigen and destroy it. As a result of this reaction blood
cells agglutinate (clump) and thus block blood circulation blood vessels of the recipient, causing
death.

In man, blood groups are controlled by multiple alleles. There are four kinds of blood
groups according to the type of antigen present in group A, group B, group AB and group O.
Persons having blood A will have antigen A in his cells, but no antibody against this antigen.
Similarly, persons with blood group B will have antigen B and no antibody against B. When an
antigen is not present in the blood cells, the corresponding antibody is present.
 52

The following shows these relationships:

Blood contains Reaction with antigen

Group Genotype Antigens Antibodies Anti. A Anti.B

A IA IA, IA I, A Anti.* B Positive Negative

B IB IB , IB i, B Anti. A Negative Positive

AB IA IB AB None Positive Positive

O ii None Anti. A Negative Negative

Anti B

-------------------------------------------------------------------------------------------------------

*Antibodies

It is noted that the four blood groups in man are due to combination of three multiple
alleles and are inherited in a Mendelian fashion. Each antigen is due to a dominant gene and a
blood group may be homozygous or heterozygous. The heterozygote will produce two types of
antigens. The gene responsible for A type of blood group is symbolized as IA and for O blood
group as i the former is dominant over the latter, An A type individual may be homozygous
(IAIA) or heterozygous (IA i). Similarly, gene IB for blood group B is dominant over i gene and
the individuals of the group B may be IB i or IB IB. A B blood group type has only one genotype,
IA IB, they are co-dominant and both express themselves in the same individual. O type blood
group persons always have homozygous recessive genotype (ii).

Transfusion of blood between two persons is possible only if they have compatible blood
groups. The parenthood of babies may also be established by the study of the blood groups, in
certain situations.
 53

Rhesus alleles in man

In addition to A and B antigens, there are numerous other antigens, like M, N and Rh
antigens. The Rh antigens like those of M-N series are different from the A-B antigens in that
normal antibodies against them are not present in the human serum, but when Rh antigens are
introduced into the blood, they provoke the formation of corresponding antibodies. When Rh-
positive blood (containing Rh antigens) is introduced into a person whose blood lacks the Rh
antigen (Rh-negative), no harmful reaction will occur, but if another transfusion takes place at a
later time, the antibodies which started forming at the first transfusion, might have grown so
strong as to agglutinate the transfused blood cells resulting in death in some cases. Similarly,
marriage between an Rh positive man and an Rh- negative woman will be undesirable, as after
the second or third child, further conceptions will result in abortions for the reason explained
above.

Compound loci (Pseudo-alleles)

In some organisms, certain areas on some chromosomes were previously considered to be

single loci which carry only a single gene, but later, such genes were found to subdivide by
crossover. The subdivisions were at first called false alleles or pseudo-alleles now they are
considered sites of compound loci. These genetic units or subunits, affecting the same character
lie very close together on the same chromosome. Due to this closeness they tend to remain
together but occasionally they crossover and produce a combination effect. Compound loci have
been discovered in drosophila (lozenge and normal eye, white and apricot eye colour) and in
maize (pigment production and nutritive content of seed).

Isoalleles

As a matter of fact, it should not be assumed that the dominant or wild type allele is
always and everywhere the same. For example flower colour allele in the pea may not be the
same in all the varieties, but we know that it shows identical dominance over white. This type of
genes has been worked out in drosophila where the red eye colour different degree of dominance
over the white eye colour. Such genes are called isoalleles because they are alike in their
homozygous ef differences appear only in special combinations.
 54

PROBLEMS

1. As many as 13 alleles for eye colour in drosophila have b How many of them may be present
together in one individual? Will they all be present on the same locus?

2. In rabbits, full colour, chinchilla, Himalayan and albino allele for full colour and show
dominance in the same order

(i) From a cross of two full coloured rabbits if 1/4 Four Himalayans was obtained.’ What could
be the genetic constitutions of the parents?

(ii) From another cross between chinchilla and Himalayans ratio of 1/4 albino, 1/4 Himalayan
and 1/2 obtained. What is the genetic constitution of the parents?

3. What will be the phenotypes of the off springs from the following crosses?

(a) Ccch x cch cch

(b) Cch x cc

(c) cch ch x chc

(d) cch ch x cc

4. A woman belongs to blood groups A and her husband to B. Their children have all the four
blood groups (A, B, AB and O). What are the genotypes of the parents?

5. A woman of blood group A gives birth to four children. One baby belongs to the group O and
the rest of the children have all A group What can be the genotypes of the woman and her
husband?

6. A boy whose paternity is disputed has blood group O. He claims to be the rightful heir to his
father’s property. His father belongs to AB group. If you are the judge, how will you decide, his
claim?
 55

Sex-Linked Inheritance

So far we have considered inheritance of such characters as were assumed to be

controlled by one or more genes located on the chromosomes other than sex chromosomes. The
chromosomes other than sex chromosomes are called autosomes. In humans, there are 46
chromosomes and of these, 44 are autosomes and 2 sex or X and Y chromosomes. Similarly, in
other living organisms there are generally 2 sex chromosomes and the rest, the autosomes. In,
some insects, you might come across more or less than 2 sex chromosomes.

In human beings, there are two sex chromosomes and called X and Y chromosomes. Any
variation in their number produces an abnormal individual. A human embryo having XY
chromosomes will develop into a boy and the one with XX chromosomes will develop into a
girl. It will be seen that the woman will produce only one type of eggs, i.e. (X) (X), whereas the
man swill form two types of sperms carrying X and the other Y. The Y sperm will produce a boy
fertilizes an egg, i.e the genotype wil1 be and the X produce a girl when it fertilizes the e.g, i.e.
the genotype will be XX.

In drosophila, as well as in some other insects the same mechanism for sex determination
operates as in humans, i.e., XY will be male and XX female. But in birds, the situation is just the
reverse the for instance, a cock, will be XX. To keep this mechanism from that found in man and
other animals, use of different preferred. One can use Z and W to show the sex constitution. A
male bird will then be designated as ZZ and the female bird as ZW.

In man, the male sex develops when the two sex chromosomes are dissimilar, i.e., XY,
while in birds, the male sex develops when chromosomes are different i.e., ZW. The sex which
depends upon the presence of two different sex chromosomes is called “heterozygous or
heterogametic sex” while the other type will be “hemazygous homogameric”. In man, the male
sex is heterogametic whereas in birds the female sex is heterogametic

We encounter still a different mechanism in some insects. For example, the bug will have
all the 14 chromosomes while the male have only 13 chromosomes. The male will, therefore,
produce two types of sperms, one with 6 chromosomes and the other with 7 chromosomes. The 6
 56

chromosome sperm will produce a male and the 7 chromosome sperm will produce a female bug
or uniting with a 7 chromosome egg.

Sex-Linked Characters in Man

Colour blindness in man is an instance of sex-linked characters, i.e

the gene or genes developing colour blindness are on the two sex chromosomes. Of the two sex
chromosomes in man (XY), Y is, by and large, empty of genes. Only the X chromosome
contains the genes which ar called sex-linked genes. The character, colour blindness is recessive;
it will develop a female only when there are two recessive alleles, one on each X chromosome.
So, for the colour blindness to develop in male only one alllele on the X chromosome, will be
needed because the other is Y, which is empty. A female of Xb Xb constitution will be colour
blind. A male XbY Constitution will be colour blind. The gene B is dominant and will not
produce colour blindness, as is shown below;

Parents Normal vision colour blindness

female XB XB x Xb y male
Gametes Xb XB, y
F1 XB X*b XBy

Neither sex will show colour blindness.

Parents Female normal vision Xb Xb x XB y male normal vision

Female gametes
XB Xb

XB Xb Xb Xb
Male Xb
female female
gametes
XB y Xb *y
Y
Male Male
 57

shows the pathway of criss-cross inheritance; male transmits its sex-linked character (colour
blindness) through his daughter to the grandson.

Similarly, hemophilia a sex linked disease in man and it as a recessive character. The
same explanation as for colour blindness holds good for this character.

Sex-Linked Genes in poultry

As we have said before in poultry (birds) the female is the gametic sex contrary to man where
male is the heterogametic sex. Barred plumage in poultry is a sex linked character and is
dominant over plumage. The allele for barred may be designated as B and its allele as b for
black.

B-will be female and barred, Bb will be male and barred, bb will be male and black

Parents Female barred ZB W x Zb Zb Male non-barred

Gametes ZB, W Zb

F1’5 ZB Zb Zb W

(Male barred) (Female non-barred)

Cross the above parents.

Female gametes
Zb W

ZB Zb Zb Zb

ZB Male Male

Male gametes ZB Zb Zb W

Zb Female Female

1/2 male: 1/2 female. Both males and females half barred and half non-barred.
 58

Non-Disjunction of X-Chromosomes in Drosophila

In drosophila, colour of the eye is sex-linked. Red eye colour is dominant over white eye
colour. If W stands for red colour and w for white, then XWXw will be red eyed female. Xw Xw
will also be red-eyed female, Xw Xw will be white-eyed ale. XW Y will be red-eyed male and Xw
Y will be a white eyed male.

If white-eyed drosophila females XwXw are crossed with red-eyed males XwY all the
females obtained should b red-eyed and all the males white-eyed. This virtually happens in
almost all the cases. But some exceptions are also detected, i.e., one fly out of 2000-3000 F1 off-
springs is a red-eyed male and a white-eyed female. Bridges, a student of Morgan, made these
experiments in 16 and showed that the exceptional behaviour mentioned above is due to the non-
disjunction of the two chromosomes at the time of gamete formation (meiosis). This would result
in the production of diploid gametes (XX) instead of haploid (X). The diploid gamete (XX)
having both the recessive alleles for white eye colour can produce white-eyed female on
fertilizing with a normal gamete bearing Y the so-called empty chromosome. Their genotypes
will be XXY. Similarly, on account of non-disjunction, one of the two types of female gametes
(eggs) will have no X chromosome. A sperm having Xw may unite with an egg having no sex
chromosome and will produce a male with red eyes.

Primary Non-Disjunction

White eye female Red ey male

Parents Xw Xw Xw y
 59

Eggs due to non-disjunction

Xw Xw Xw

XW XW Xw XW Xw Xw XW-

Red female Super female usually Red male sterile

dies

Y Xw Y Xw Xw Y Y-

White male Exceptional white dies

female

Exceptional white-eyed female (Xw Xw Y) and red eyed male X-w arise because the x
chromosomes sometimes do not disjoin during egg formation.

Secondary Non-disjunction

White eyed Red eyed exceptional female

Parents XwXwY X XwY

Female gametes

Attached X chromosome in drosophila

Another exceptional behaviour of the sex-linked inheritance was is covered by discovered by

Morgan which varied from the normal criss-cross inheritance and the non-disjunction pattern
already described. For instance, an female, when crossed to a normal (brownish grey) male,
produced only yellow daughters and normal sons, whereas, in normal sex inheritance, all the
female should have been brown and males yellow. Morgan explained that the x chromosomes, at
the time of gametes formation, remained attached together and thus produced two types of eggs
namely, one with attached XX chromosomes and the other without X chromosome. A cross
between yellow co1oured female and a normal male fly produces the exceptional XXY female.
 60

This yellow fema1e XXY when crossed to normal male will produce two types of gametes XX
and Y; the two attached XX either go to polar body or remain in the egg.

Exceptional yellow female normal red male

Parents Xr Xr Y x XR Y
Female gametes
Xr Xr
Xr Xr XR XR Y
Y
Usually dies Red male

XR Xr Xr Y YY

White female dies

The following inferences can be drawn:

I. Zygotes of the constitution XX X usually die but sometimes may survive and are called super
females.

II. Zygotes having YY but no X usually dies

III. Yellow exceptional females with two attached XX at chromosome survive and then, besides
the above types, we have normal red males produced.

sex-linked inheritance and work on non-disjunction provided a brilliant proof for the
chromosome theory of heredity.

PROBLEMS

1. Why is there a greater proportion of colour-blind boys than girls in human population.

2. In drosophila, vestigial gene is present on chromosome No. 2 (autosome). Will you call it a
sex-linked character?
 61

3. A colour-blind man marries a normal vision woman whose father was also colour-blind. What
type of vision expected in their children?

4. A man and a woman, both of normal vision marry produce two daughters having normal
visional, and (one normal and the other colour blind). Both the daughters marry normal vision
men. All children from one normal girl are normal while 50% boys from the other are colour-
blind. What are the genotypes of the parents?

5. In human beings, hemophilia is a recessive sex-linked character. explain the phenomenon of

crisscross inheritance of the character?

6. If the mother is colour-blind and the father of normal vision, what will be the vision of their
boys and girls?
 62

Inheritance of Quantitative Factors or Multiple-Factor or Multigenic Inheritance

In the previous sections, we have discussed genetic laws governing inheritance of

qualitative characters. Such characters are not continuous in their expression and are classifiable
into different groups. For instance, in pea, on which Mendel performed his classic experiments,
all the 7 characters were qualitative and displayed discontinuous variation. The flower position
was either terminal or axillary; the seed either round or wrinkled, the pea plant was either tall or
dwarf and so on and so forth. Such characters are called qualitative, discontinuous, or Mendelian.

On the other hand, we come across several other characters in plants and other living
organisms, whose expression is continuous, i.e., they cannot be divided into distinct classes;
there are no breaks in their beings behaves as a continuous character. Similarly, body weight,
plant yield, mental faculties and several other characters are continuous characters. In these
cases, one cannot distinguish and count different forms of a character merely by looking at them,
as is possible in qualitative characters. But, measurements in the appropriate scale are made in
order to study the mode of their expression and inheritance. Since the study of these characters
involves their measurements, they are called quantitative or metric characters

Genetic studies on quantitative or metric characters have demonstrated that the

inheritance of these characters is not as simple as that of qualitative or Mendelian characters, but
it is rather quite complex and their inheritance is termed multiple-factor or multigenic inheritance
as contrasted with the simple inheritance of a qualitative character where only one, two, three or
four genes may be involved.

Although inheritance of quantitative characters is multigenic i.e involving many gene

more or less equal in effect, yet the same Mendelian laws are applicable in. this type of
inheritance, as in simple inheritance. These genes segregate and assort independently ( subject to
linkag because of the operation of many genes, the number, of phenotypes very large and since
the genes have equal effect and the environment effect is overwhelming they produce a
continous expression of character which is not classifiable into distinct groups.

The individual effect of such genes is relatively small and highly susceptible to
environmental conditions. In animals, milk yield is a quantitative character. A cow, for instance,
 63

may have the potentiality (genotype) of yielding 40 lbs. of mi1k daily if feed on reduced in
quality or quantity; the milk yield will suffer a corresponding reduction. The reduction in ration
has not actually affected the genotype of the animal but has changed phenotype (milk yield). It is
evident that a variation in the environment affects the expression of the quantitative characters,
but similar changes are not so conspicuously expressed for qualitative characters. Another
feature of the quantitatively controlled character is that the number of genes involved is usually
large and there is a correspondingly large number of genotypes and phenotypes in the
segregating generations.

Multiple factors or multiple genes or polygene should not be confused with multiple
alleles. Multiple alleles (skin colour in rabbits) are members of an allelic series and
in a diploid organism. Whereas several multiple genes, effeeting a particular trait are present
together in a diploid organism and variation in the number of contributing genes (plus, major)
brings about a change in the phenotype.

Pleiotropy

Sometimes a gene may have more than one effect, i.e. influences more than one character
simultaneously. It has long been blue-eyed white cats are always deaf; blue eye gene also causes
deafness. In wheat the presence of awns usually has a pleiotropic effect on grain yield. Awned
wheat is better yielders than those without awns.

Kernel Colour in Wheat

The first case of quantitative inheritance was studied by Nilsson-Ehle (1910-13) about
kernel colour of wheat. He crossed varieties differing for red and white kernel colour, and
observed that the F1 grains were intermediate in colour between the two parents. The F2 raised
from the selfed seed of F1 produced a continuous variation ranging from red to white which was
grouped arbitrarily into 5 classes. 1/16 of the total F2 plants resembled red parent in grain colour
and another 1/16 the white parent and the rest 14/16 plants were midway between the two parent
for colour expression. Of these 14/16 plants, 6/16 were like the F1 4/16 were lighter than the red
parent and darker than F1, and 4/16 were intermediate between F1 and the white parent. This
pattern of segregation showed that two gene pairs controlled the inheritance of kernel colour and
 64

that they were cumulative (additive) in their effect. In another study the same author discovered
that three gene pairs instead of two, controlled kernel colour difference.

Skin colour in man

In man, skin colour is due to the presence of melanin, which is genetically controlled. It
is believed that several genes may be involved. A negro has the maximum amount of melanin
pigment while a white possesses none or a very small amount of it. In other words, negroes
possess all the colour genes and the whites recessive alleles. From marriage of a negro and a
white all the children are mulattoes (intermediate in skin colour). When the mulattoes marry
together, their children (F2) show all grades of skin colour between black and white. The melanin
production is, however, greatly influenced by exposure to sunlight. The more the sunlight the
more melanin and vice versa.

Plant height in wheat

We shall now consider inheritance of another quantitative character plant height in wheat.
It has been determined that plant height in wheat is controlled by several major and minor genes.
Let us suppose that 5 gene pairs control inheritance of plant height, dominance exists at each
locus and each dominant allele contributes two units to the expression plant height. Consider this
cross between a tall and a dwarf part dwarf parent measures 40 inches and the tall parent 60
inches in height.

Parents AABBCCDDEE x aabbcc

60” 40”

F1 AaBbCcDdEe (50 inches tall)

To obtain frequency of various classes in the F2, expands binomial (A + a) is helpful,

where A is the dominant allele recessive.

Frequency Genotype Phenotype

I A10 60” tall

10 A9 a1 58” tall
 65

45 A8 a2 56” tall

120 A7 a3 54” tall

210 A6 a4 52” tall

252 A5 a5 50” tall

210 A4 a6 48” tall

120 A1 a7 46” tall

45 A2 a8 44” tall

10 A1 a9 42” tall

1 a10 40” tall

It will be observed that in the F2 of this cross, one plant out of 1024 plants one is 60” tall,
10 plants are 58” tall; 45 plants are 56” tall and so on down to one plant being 40” tall which
does not have any dominant gene.

A large variety of characters behaves quantitatively and of their inheritance may be

attempted as shown above. Other methods are also available for this purpose.

PROBLEMS

1. What do know about a qualitative character? Make out important difference between them.
List at least five characters of common plants and domestic animals that behave either
qualitatively or quantitatively.

2. It is frequently observed that the seed size within the same crop variety and even on the same
plants shows considerable variation. Explain.

3. Assume that skin colour in humans is controlled by two additive gene pairs. The genotype of a
negro may be written as AABB and that of a white aabb. What will be the skin colour of children
from a marriage between a negro and a white and between the two F1’s of this mating?

4. If two mulattoes from the above problem marry each a white and a black person what will be
the skin colour of the children from each marriage’?
 66

5. Suppose per-plant seed yield of a certain homozygous wheat variety is 3 grams and that of
another 9 grams and suppose further that the difference in grain yield between the two plants is
due to 3 gene pairs acting cumulatively. What will be the grain yield of F1 and F2 plants?

6. Assume that the difference in the height of the two rice varieties, measuring 18” and 34” tall,
is due to four pairs of additive genes. Make a cross between 18” tall (aa bb cc dd) and 36’ tall
(AA BB CC DD) plants. What will be the phenotypes of the F1 and F2 plants resulting from this
cross. Also figure out the contribution of each plus gene.

7. Three gene pairs with equal effect are supposed to control fruit weight in the squash plant.
Fruit in one variety weights 5 lbs. (AABBCC) and in the other 2 lbs. (aabbCC). F1 and F2
generations are raised from the cross between these two varieties.

What will be:

(i) The effect of each contributing gene.

(ii) The fruit weight of F1 and F2 plants.

(iii) The number of genotypes and phenotypes in F2.

(iv)The proportion of plants carrying 4 lbs and 3 lbs fruits.

8. If the plants (AaBbCc) with 3 lbs fruit from the preceding intercrossed, how will fruit weight
segregate in the progeny?

9. Two maize varieties having yellow and white kernels were crossed. In the F2 progeny, 1/64
plants had yellow kernel like yellow and 1/64 were white like white parent, but 62/64 were
between the two parents. What are the genotypes of the parents and also calculate the number of
genes involved?
 67

Linkage ad Crossing over

The two most important genetic laws that Mendel formulated as a result of his studies on the pea
plant are (i) Law of segregation and (ii) Law of Independent Assortment. According to the law of
segregation, two homologous chromosomes, one each contributes by the two parents segregate in
the maturation process and are included into different gametes. Segregation of homologous
chromosomes brings about segregation of the two alleles of the allelic pair. The Law of
Independent Assortment states at, while segregation of the members of the pair of homologous
chromosomes must take place, each of these two homologous chromosomes can form all
possible combinations with the rest of the chromosomes at the time of gamete formation. That is
to say the chromosomes assort dependently of one another, have no preferential association and
are included into the gametes in haploid number.

What is Linkage? Genes are on the chromosomes. There are thousands of genes
determining expression of all the characters of a plant or any living body. All these genes have
got to be located on the limited number of chromosomes that a plant may have consequently
several genes must be located on individual chromosome the same are therefore linked by virtue
of their being present on lied Linkage in the same chromosome or to enter the gametes in
parental combinations.

What is crossing over? At the time of gamete formation (gametogenesis) genes on a

particular chromosome will be carried together wherever that chromosome goes. But, this does
not happen all the time and all of the genes on a chromosome do not go together due to the
breakage of chromosomes and the resultant exchange of the homologous part of the chromosome
during synapses. Crossing over may be defined as the tendency of genes to enter the gametes in
combinations other than parental.

The exchange or crossing over in the homologous chromosomes occurs in almost all
animals and plants with a few exceptions. In male drosophila and female silk moth crossing-over
does not occur and linkage is complete.

The crossing-over occurs at the four-strand stage during prophase of meiosis. At the point
of chiasma (cross-shaped configuration) the broken ends of the non sister chromatids reunite and
 68

thereby the exchange of genes takes place. These chromatids separate at the time of second
meiotic division and the cross-over chromatids separate the parental combinations and enter into
different gametes

A crossing-over in an organism heterozygous for two gene pairs is shown

diagrammatically

___a______B______ ___A______B_____ ___A____b_____

___a______b_______ Meiosis __A______B_____ __A__ B
___a_______b____
____a_______b___ ___a___ b
___a____________b__

_A_______B____ _A____________B_____
_A_______b____ __A____________b____

_a________B___ __a_____________b__
_a_________b__ __a_____________b__

The cross-over gametes will be less frequent because:

1. Only 1/2 of the chromatids take part in the crossing-over
2. All the chiasmata do not represent a crossing-over.

Factors effecting the crossing-over

1. Environments: High temperature usually increases the rate crossing over.

2. Age: Aged individuals may show more crossing-over.
3. Distance from the centromere: The Genes in the immediate vicinity of the centromere do not
show crossing-over
4. Distance between the genes: The closer the distance between the genes, the stronger the
linkage and less the crossing-over.

Linkage group

A linkage represents all the genes situated on a chromosome. There are as many linkage groups
as the number of haploid chromosome in a particular organism.
 69

Linkage studies in the pea

Bateson and Punnett (1906) discovered the linkage of some characters in sweet peas.
They, however, could not present a satisfaction explanation of this phenomenon as they did not
believe that genes are on the chromosomes. They crossed two varieties of the pea, i.e. one with a
purple flower colour and long pollen (PPLL) and the other with red flower and round pollen
(ppll). In an earlier experiment they had noted the flower colour and the pollen size were
controlled by different genes. F1 was purple and long (PpLI), while the F2, did not conform to the
law of independent assortment as the ratio of 9:3:3:1 was not obtained. Parental types were more
frequent and the two classes (recombination’s) occurred less frequently. The two gene
combinations PL and pl stayed together more frequently came from the parent, and their
separation occurred less frequently to produce new combination.

From these results, they developed the theory of coupling repulsion. As understood
today, when the two dominant characters for that matter, the two dominant genes are on the same
chromosome their corresponding recessive alleles on the other homologue, the phenomenon is
called coupling and when the two dominant genes are located on two different chromosomes, the
phenomenon is termed repulsion. Suppose A and B are linked, then a cross between AABB x
aabb will show the coupling and a cross between AAbb x aaBB will show the repulsion phase.

Linkage studies in drosophila

Morgan (1910) came across a similar situation in his studies on drosophila. He was able
to explain the tendency of the two characters to remain together in crosses by demonstrating that
these characters controlled by the genes on the same chromosome and thus replaced
of coupling and repulsion with that of linkage and crossing over.

Detection of linkage

Detection of linkage is possible when two or more genes considered simultaneously. In

the event of the two genes being located on two different chromosomes, independent assortment
of these genes take place and a plant of AaBb genotype will form four types of AB, Ab, aB and
ab in equal numbers. If the two genes A are linked, i.e., they are on the same chromosome, the
AaBb plant form the same four types of gametes, because of the crossing-over, but however, the
 70

two linked genes will tend to remain together and be in the same gamete, and consequently, AB
and ab gametes will numerous than the Ab and aB gametes.

Let us now consider a cross that Hutchison made in maize one variety whose seed was
coloured and normally filled (coloured and the other variety having colourless and shrunken seed
(c shrunken). The colour gene was dominant over the colorless full endosperm was dominant
over the shrunken. Using genetic formula we can describe his results as follows:

Coloured full x Colourless shrunken

Parents CCFF (CF/CF ccff (cf/cf)
F1 CcFf (CF/cf) (coloured, full)
He test-crossed CcFf with ccff and got the following results:
(1) CcFf (CF/cf) =4032 coloured full
(2) Ccff (Cf/cf) = 149 coloured shrunken
(3) ccFf (cf/cF) =152 colourless full
(4) ccff (cf/cf) = 4035 colourless shrunken

It will be observed that parental combinations in the progeny of this test cross are far in
excess of the new combinations, i.e. the coloured full and the colourless, shrunken being the
parental combination, are far more numerous. This proves that, of the four types of the gametes
formed by Ff (F1), the parental gametes CF and cf are very many compared to a few
recombination’s, Cf, cF. If assortment were independent then all of these four gametes would
have been equally frequent. This reveals that two genes C and F are on the same chromosome
(they are linked). such a test cross where parental combinations occur in the progeny more
frequently than the new combinations, it is indicative of linkage.

What is linkage calculated?

1. Testcross method: The most convenient and efficient method determine strength of
linkage is to make a test cross (cross F1 with double recessive). The cross will yield four
phenotypes if dominance is involved. If there is no linkage, all the four phenotypes i.e., the
parental as well as the new combinations will be equal in number. If the two genes linked the
four types will be unequal, the parental ones being more frequent.
 71

If the number of parental combinations and of new combinations separately added the
percentage of each can be worked out. For instance, in the above testcross of Hutchison, the total
parental combinations are 4032+4035=8067, and the total of new combinations is 149+152=301.
The percentage of parental combinations will represent strength of linkage and the percentage of
new or recombination will indicate the cross-over value or recombination value.

Recombination or cross-over value = 301/8368 x 100=3.6 %

Linkage strength =8067/8368 x 100 = 94.4 %

If one value is known, the other is obtained by subtracting it from one hundred. The two genes
are 3.6 units apart on the chromosomes.

2. F2 analysis to calculate the crossing-over value of the two linked genes. F2 data from
dihybrid individuals can also be subjected to the analysis to determine the strength of linkage or
the crossing-over value. The key to F2 analysis is to look for the double recessive individuals in
the F2 population, count them and compute their relative frequency (fraction). It will be realized
that a double recessive male and female gametes. So the frequency of the double recessive
individuals is equal to the product of the frequencies of the male equally frequent in population,
the frequency (fraction) of the double recessive gamete (male or female) can be obtained by
taking the square root of the frequency (fraction) of the double recessive individuals. The
fraction of the double recessive gametes thus obtained is also the fraction of the double double
recessive gamete thus obtained is also the fraction of the dominant alleles are carried on the other
homologous chromosomes. When the frequency of ab and AB gametes are known, the
frequencies of their recombination or cross-over types can be calculated by subtracting the sum
of AB and ab from one. The following example, where A&B are linked, may be considered

Parents = AB/AB x ab/ab

F1 = AB/ab
F2 = A-B- = 160
A- bb = 40
aaB- = 40
aabb =60
 72

if the entire F2 individuals are added up, the frequency (fraction) of aabb, the double
recessive individuals can be calculated
Frequency of aabb =60/300
Frequency of ab gametes; their

Sum = 0.44+0.44 = 0

The frequency of Ab and aB gametes will be 1-0.88 = 0.12. Since Ab and aB are the cross-over
types, their frequency in the gametic population is the cross-over value of the A and B genes. So
the cross-over value = 0.12 or 12 % and linkage strength = 0.88 or 88 %

PROBLEMS

1. Could you name the scientist who first discovered linkage; how did he explain it?

2. How is gamete formation affected in a dihybrid organism where two genes are linked,
compared to when the two genes are independently inherited? Illustrate your answer by
cytological diagrams.

3. Suppose that the two linked genes B and C show 14 percent crossing over. In what proportion
will be F1 resulting from a cross x produce the parental and recombination gametes?

4. If the F1 from the preceding problem is test crossed with the double recessive parent, what
will be the genotypes of the backcross progeny? Also figure out the proportion of parental
classes.

5. A maize variety with coloured full grains was crossed with colourless, shrunken grains. The F1
was test crossed with the double recessive parent. The test cross progeny was classified as
follows:

Coloured full — 453

Colourless full — 48
Coloured shrunken — 52
Colourless shrunken — 447
 73

Write the genotype of each class and work out the strength of linkage and cross-over value.

6. A tomato variety having tall vine and round fruit was crossed with another with dwarf vine
and pear fruit. The F1 plants were all tall and bore round fruit and were test crossed to raise
progeny.

Tall round =1509

Dwarf pear =1441
Tall pear =556
Dwarf round = 496

Do you think that the genes for tall vine and fruit shape If so, how strongly?

7. Now make a cross between homozygous tall pear and varieties as obtained in the preceding
problem. Test with double recessive. What will be the genotypes, phenotypes their proportion in
the testcross progeny; calculate the linkage and the cross-over value.

8. What do you mean by a linkage group? How many linkage will there be in maize whose (2n)
chromosome number

9. Consider the following cross in pea and calculate the value:

Parents Coloured terminal CT X Colourless axial

CF
F1 Coloured terminal CT
ct
F2 C--T-- =424
ccT-- -- = 99
C--tt -- =102
cctt -- =91
10. Comment upon the following statements.:
(i) Linkage violates both the Mendelian laws.
(ii) Mendel was lucky not to run into linkage in his experiments.
(iii) Linkage can be detected in homozygotes.
(iv)Mendel had a very small chance to discover linkage.
 74

The Modern Concept of Gene

According to the classical concept of gene which primarily developed from the
Mendelian analysis of genetic data, a gene is an indivisible entity and at once a unit of function,
recombination, and mutation. This notion implies that a given segment of the chromosome
responsible for a particular genetic activity would, as a whole, be the basis of various genetic
functions, like segregation, recombination and mutation.

More sophisticated analysis of these genetic phenomena on a molecular level in recent

years has provided a new, more comprehensive understanding of the gene. As a result, the old,
classical concept of gene changed drastically. In the modern enlightened sense, the gene is no
longer to be considered a unit of function, recombination and mutation but, on the other hand,
these phenomena are now known to occur at different molecular levels. For instance, a unit of
recombination and or mutation is not a unit of function. These three units are not of the same
dimentions. The unit of function is much larger than the units of recombination and mutation, the
latter two units (recombination, mutation) being enclosed within the former (function). Since
these units have different entities, they are named differently. The unit of function is called
“cistron”, tbç unit of recombination “recon”, and the unit of mutation “muton”.

Structure of Gene

Chemically speaking, the genetic material present in the chromosomes is DNA

(Deoxyribonucleic acid) and a gene is represented by a given sequence of the nucleotides, of
which the DNA is composed. There e four kinds of nucleotides in the DNA corresponding to the
four nitrogenous bases namely (i) adenine, (ii) guanine (purines), (iii) cytosine and (iv) thymine
(pyrimidines). Each of these four bases along with pentose sugar and inorganic phosphate makes
a nucleotide. These nucleotides are the building blocks of the DNA molecule which is a double-
stranded, helical structure with enormous molecular weight. The DNA molecule provides the
basis of life and is rightly recognized as the master molecule.
 75

As shown from the DNA structure illustrated, the two strands are intertwined around each
other in opposite directions. Between two strands, adenine pairs with thymine and guanine with
cytosine are held in position by hydrogen bonding. The two strands open permit DNA
replication. According to more recent studies, the replication can take place with unopened
strands. Anyway, the process and mechanism of replication are quite intricate. DNA not only
replicates itself but also directs the synthesis of RNA (ribonucleic acid).
 76

DNA, RNA is a single-stranded molecule consisting of the same nucleotides except thymine
which is substituted by uracil. It acts as a messenger between DNA and the cytoplasm factory for
protein synthesis.

Protein Synthesis

As explained above, a certain sequence of the nucleotides equivalent to a particular gene.

This sequence (gene) is transcribed into RNA and carried to the cytoplasm to direct the synthesis
of a special portion of protein. A protein molecule consists of twenty different amino acids
arranged in a particular sequence which is determined by sequence of the nucleotides in the
DNA. In other words the amino a specificity is the function of the nucleotide specificity.

Important steps in protein synthesis are mentioned briefly. The genetic information
contained in the DNA for the synthesis of a protein is copied out in the form of RNA, which
carries to the cytoplasm is called messenger RNA. Several molecules of the messenger RNA
take part in carrying all the information needed to construct certain portion of protein. The
messenger RNA arranges itself in proper position at the ribosome, the site of protein synthesis in
cytoplasm. Also present in the cytoplasm are different amino acids 20 different transfer RNA
corresponding to each amino acid. A particular transfer RNA will form a complex with a
particular amino acid. Before this complex is formed, the amino acid is activated by (adenosine
triphosphate) the energy-rich compound. This activated complex moves to the ribosome and the
amino acid is thus inserted in the protein chain at the proper place with the help of the messenger
RNA. Likewise, other, amino acids that are needed in the synthesis of the protein are brought to
the ribosome and the desired molecule of protein obtained.

The protein thus synthesized under the direction of DNA produce a given phenotypic effect. It
should be clearly understood that a phenotypic expression is the direct outcome of the DNA
activity and any change in the protein structure shall have no effect on the DNA; that is why
acquired characters cannot be inherited.
 77

PROBLEMS

1. How would you define a gene on a molecular basis and in classical sense?

2. What is DNA and its chemical composition? How does it from RNA?

3. How would you explain the relationship between DNA and protein synthesis?

4. Could you explain in terms of DNA-protein relationship acquired characters are not inherited?
 78

Chromosomal Aberrations

Chromosomal contents (number and structure) of an individual, a crop variety or a

species remain constant from generation to generation. The constancy of the chromosomal
contents, ensures the constancy of the individual with all its characteristics. If a viable change
occurs in the number or structure of the chromosomes of an individual, the properties of the
individuals change accordingly and the changed properties are also expressed in the off-springs
of the individual faithfully over the generations.

Such a change can occur in the following three ways:

1. Recombination of the existing chromosomal materia1 through crosses.

2. Change in the number of chromosomes.

3. Change in the chemical or physica1 composition chromosomes.

1. Change by recombination

Much has already been said in the previous sections about how individuals change
genetically through recombination of chromosomes and, for that matter, of the genes carried on
them. The genetic changes caused by this process are expressed phenotypically in the next
generation, the changed phenotypes can further change by going through further combinations

2. Change in chromosome number

There is a basic chromosome number within a genus or a species and additions to, or
subtraction from, that basic number through evolution produce new individuals or species with
modified character. This phenomenon of change in chromosome number is termed polyploidy. If
the changed number is an exact multiple of the basic chromosome number, the polyploidy is
called Euploidy and if it as not an exact multiple, the polyploidy is called aneuploidy. Take, for
instance, wheat. The basic chromosome number in wheat genus (Triticum) is 7, which may be
designated as X. Its exact multiple numbers will be 14(2x), 21(3x), 28(4x), 35(5x), and 42(6x).
The species with 14 chromosomes will be diploid; with 21 chromosomes triploid; with 28
chromosomes tetraploid; with 35 chromosomes, pentaploid; with 42 chromosomes hexaploid,
 79

while the basic number of 7 constitutes a monoploid. Our common bread wheat grown in this
region is Triticum aestivum which is a hexaploid.

It may noticed that in euploidy, the basic set of chromosomes is added or taken out, as a whole.

Euploid type of polyploidy is further divided into two classes:

i) Allopolyploidy. Different sets of chromosomes are from different sources through crossing
followed by doubling. Species hybrids are usually sterile, and fertility may be restored if the
chromosome number of such hybrids is doubled. Such chromosome doubling provides suitable
mates (homologues) to synapse during cell division. Take the example of Raphanobrassica, a
polyploid developed through the crossing of two different species, cabbage (AA) and radish
(BB). The hybrid (AB) between these species was found to be sterile. On doubling its
chromosome number, it produced viable gametes, because each duplicated genome provided
proper homologues for due synapses. It is illustrated as under:

Parents: Cabbage X Radish

AA (2n 18) BB (2n 18)
Gametes A, (n, 9) B, (n, 9)
F1 AB (2n, 18)
Chromosome doubling AA BB (2n, 36) Raphanobrassica

Our common bread wheat is an allopolyploid, because its three different chromosome sets
(genomes) have been contributed by three different species.

(ii) Autopolyploidy. All the sets of the chromosomes (genomes) present in a polyploid
belong to the same individual, and no prior crossing is involved. In other words, one genome is
repeated many times. Autopolyploids are usually sterile, because more than one homologue are
present during meiosis and irregular pairing of chromosomes results in the production of
unbalanced gametes which are usually sterile.
The autopolyploids may originate as a result of (1) doubling of the chromosome number in the
somatic tissue, that takes part in gamete formation (2) failure of reductional division resulting in
reduced gametes.
 80

Triploid. These have three sets of chromosomes and may be produced when an
unreduced (2n) gamete is fertilized by a normal (n) gamete. They may also arise from a
tetraploid crossed with a diploid. The triploids are usually unstable and sterile.

Tetraploid. These have four sets of chromosomes. Frequently, their origin is through
doubling of diploid which may be allopolyploid or autopolyploid. Irregularity at the time of
mitosis causes doubling of chromosomes. Any agency that does not allow the spindles to
develop properly in cell division will obstruct the division of duplicated chromosomes which
may then be enclosed in the same nuclear membrane producing a tetraploid.

In aneuploidy, the chromosome number is modified by adding or subtracting only one,

two, three, etc. chromosomes and not the entire set. If from an amphidiploid (2n), one
chromosome is missing, it is called monosomic (2n-l), and similarly with the addition of one
extra chromos ome resembling any other existing chromosomes, the individual is called trisomic
(2n + 1); (2n + 2) will be teterasomic and (2n-2) nullisomics

The aneuploids have a practical significance in identifying genes on different

chromosome. The trisomic individuals (one chromosome is repeated three times), produce
different phenotypes than the normal and so do the monosomes. The deficient or the additional
chromosome can be identified cytologically and the changed phenotypic effect may be attributed
to genes present on those chromosomes. It is rather difficult to establish monosomic lines in
organisms which are not polyploids. Nullisomics are also usually in viable.

3. Changes in chromosome structure

Physical and chemical changes in the chromosomes of an individual can occur in several ways.
We may first discuss physical ones.

(1) Deficiency. When chromosome somehow loses a portion pf itse’f, deficiency occurs.
A break may occur at the end of the chromosome, which will produce a termina1 deficiency.
Two breaks rnay delete a middle portion of the chromosome, which will be an intercalary
deficiency. When a normal hornologue pairs with its deficient mate, it shows a buckling effect as
follows:
 81

A B C D E F A B C D
Normal Chromosome Terminal deficiency
A B E F
Intercalary deficiency

ii) Duplication. A chromosome gains a portion of a homologous chromosome and is thus

doubled for that chromosome material. The duplication provides a means to study the effect of
some genes in single, double or more doses.

A B C D E F A B C D E F E F
A B C D E F Duplicated chromosome

Break occurs in one chromosome

(iii) Translocation. When two non-homologous chromosomes exchange their

corresponding portions, they are said to have undergoes translocation; the translocation will be
reciprocal. In the non-reciprocal translocation corresponding portions are not exchanged.
Translocation usually do not involve any Loss or addition of the chromosome material but only
represent the engineering of new chromosomes and alter the linkage groups, besides inducing
partial. Sterility in the gametes.

A B C D A B C D A B Y Z
W X Y Z W X Y Z W X C D
Non-homologous Break occurs in Reciprocal
chromosomes corresponding portion translocation
A B C D A B C D Z
W X Y Z Non-reciprocal translocation
Break occurs in one
chromosome
(iv) Inversion. Certain segment of a chromosome may break at two places and if the breaking
points are close to each other due to the formation of a loop, the broken ends may .reunite on the
wrong ends and produce an altered gene order.
 82

A B C D E F A B E F A B D C E F
D C

Normal chromosome Formation Inverted chromosome

of loop

When the inverted chromosome pairs with a normal chromosome, forms a loop, as shown in the
following diagram:

C D

A B C D E F A B E F

C D
A B C D E F A B E F
Inversion has occurred Pairing between inverted and normal
in one homologue homologous pair of chromosome

Chemical change in the chromosome

Structural change does not obviously alter its physical shape and form, but definitely
imparts new qualities to the genetic matter contained therein. A gene which is located on the
chromosome, is a chemical entity and its three important components are (i) Nitrogenous bases,
which are of 4 kinds (ii) Pentose sugar and (iii) Phosphoric acid. These three chemicals combine
to form 4 nucleotides according to the 4 nitrogenous bases. In the chromosome, these nucleotides
are arranged in different orders giving rise to various genes. If this arrangement is disturbed by
changing the order through some means, the gene is changed and a new phenotype results. Such
changes occur very rarely in nature, but can be induced by artificial means and this process is
called mutation.

Mutation is permanent in nature but a gene can back-mutate restoring the original
genotype and the phenotype.
 83

Mutation can be induced by the following agencies:

(i) Ultraviolet light

(ii) Ionizing radiations (X-ray, Gamma rays) etc.

(iii) Chemical substance, i.e. Colchicines, acenapthene, Sodium azide, mustard gas,
E.M.S. etc.

(iv) Temperature

Agents which cause mutation are called mutagens and the new forms produced are
mutants. The process of inducing mutation is called mutagenesis. The use of mutants in plant
breeding may be called Mutation breeding.

PROBLEMS

1. Name different forms of polyploidy and discuss each in brief, giving suitable examples.

2. Which form of ploidy (allo or auto) do you think is more common in plants and why?

3. A & B represent the two basic genomes. What type of polyploidy do the following individuals
represent?
(i) A A A A
(ii) A A B B
(iii)A A B B B B
(iv) A A B

4. The basic chromosome number of a species is 5. Calculate the number of chromosomes of the
individuals belonging to diploid, triploid, tetraploid, pentaploid and hexaploid series.

5. How many types of physical changes can occur in the chromosome structure. Why are
inviable gametes produced by most of such individuals as have undergone such changes?

6. Discuss various mutagens. How does a point mutation occur?

 84

Application of Genetics in Crop Improvement

Philosophy

Throughout the discussion of different genetic phenomena in the previous chapters, it

was quite apparent that an essential feature of biological populations is the variability expressed
in growth and development and of their characteristics. As a rnatter of facts has been stated
above, the science of genetics attempts to explain the basis of the variability and similarity in the
expression of a character. One may look around and be struck by an amazing degree of diversity
present in living beings and yet they are alike in several ways. Consider, for instance, human
skin colour. Some people are white, some are dark, and a great many possess varying shades of
colour between the two extremes, dark and white. Similarly, people differ in body weight,
height, mental capacity, eye color, etc.

In plants, too, there may be seen a wealth of variability. Within a crop species some
plants are taller, some produce more tillers, some are better yielders and some are better resistant
to various diseases and other adversities. Unless an effort is made to produce and maintain a
perfectly pure crop, it may ordinarily be a mixture of variable plants. You will realize that a self-
pollinated crop is relatively less variable than a cross-pollinated crop.

The causes of variability are to be found in the genetic structure of a population and the
environments under which the various members of the population are living. That is to say, the
causes of variability are (i) genetic and (ii) environmental. Genetic causes may largely consist of
mutation and recombination of the genetic material (genes). A mutation, represents a change in
the chromosome number or structure, and may occur spontaneously or be induced artificially by
different means, e.g. irradiation and chemicals. Recombination does not, however, involve a
structural or a numerical change but is simply a recombining of the genetic material through
independent assortment following hybridization.

All such changes are permanent and therefore, heritable. On the other hand, changes
induces in the phenotypic expression of a character by variation in the environments, may at best
last during the lifetime of the individual and are not transmissible to the next generations.
Breeders are naturally not interested in non-heritable changes, because they seek such changes
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which have their basis in the genetic material and stay permanently. Creation of genetic changes,
their identification and ingenious manipulation to evolve new crop varieties, constitute the field
of plant breeding.

Methods of Plant Breeding

As it has been pointed out before, the basis of crop improvement is the existence of
genetic variability in plant material. A breeder exploits it in several different ways to create new
crop varieties which are capable of out-performing their ancestors in the expression of various
economic characters, e.g. crop yield; quality, resistance to diseases, insect pests etc. The Success
of a breeder’s effort has a direct relationship with the amount of genetic variability present for a
particular character. The greater variability, the easier the method available for breeding and
more rapid its progress. The choice of a breeding method is therefore, dictated, on the one hand
by the magnitude of genetic variability and, on the other hand, by the genetic system of the plant.
Some of the important fundamental methods of plant breeding are discussed below briefly./

A. Self -pollinated crops

1. Single Plant Selection

In self-pollinated crops, when it can be used, single-plant selection is the simplest of all
the methods of crop improvement. Single plants, having the desired characters, are selected and
their progenies raised separately to test the performance of single plants against a standard
variety. Plants found performing better are selected, their seed multiplied and after appropriate
yield trials, the best single plants recognized as new varieties. It may sometime be considered
profitable to bulk all of them to be used as a multilineal variety. But on the other hand, when a
variety descends from a single plant, it is called a pure line and the method of its production is
called pure-line method of selection. The pure-line theory was developed by Johanson, a Danish
breeder. According to it, desirable plants are selected, their progeny raised the following year,
only Superior progenies harvested and their progenies are then tested for yield. The best ones are
released.
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2. Mass selection

This method may be practiced both in self and cross-pollinated crops. A number of
plants, having desirable characters, are selected from un-improved crop material; their seed is
bulked without testing the performance of their progeny and thus all the selections are mass-
planted for early evaluation or for further mass selection. The objective is to finally make a
collection of as many plants as may possess the desired characters and to use them together as a
new variety. It may be pointed out that in cross-pollinated crops, mass selection of plants is
required to sustain a maximum level of reproduction and vigor of the crop.

3. Hybridization

If the plant material intended to be improved for certain characters does not show enough
variability or if the desired combinations of characters are not available, then one may resort to
hybridization of the individual plants to produce new combinations on which individual or mass
selection may effectively operate. Hybridization is an effective means of recombining genetic
material. Suppose there are some good characters possessed by one variety and some other good
characters possessed by another variety. The purpose of breeding may be to get together the good
characters of these two varieties in one single variety. This can be achieved by making a cross
between the two varieties and then selecting from the segregating progeny of the cross in F2 or a
later generation. The method of selection may be single-plant or bulk selection, depending upon
the type of material and the breeding objective. By suitable genetic experiments it may first be
determined as to how many gene pairs control the expression of the characters under study. Once
obtained, this information should be of considerable help to the breeder in regulating the size of
segregating populations so that he must be able to pick up the desired segregates.

(1) Pedigree Method

According to this method, superior segregates are selected in successive segregating

generations, maintaining a complete record of the parent-progeny performance. The selection is
made in the F2 generation and the progenies of each selection are planted in succeeding
generations until the desired level of genetic purity is reached. Then follow the testing. During
yield tests observations are made on such characters as height, straw stiffness, winter hardiness,
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maturity, disease resistance, quality, etc. The strains scoring highest among all are finally
selected as varieties.

(ii) Bulk Method

This method differs from the pedigree method in that the selection is not made in F2 but
the material is grown in a bulk plot from the F2 to about F6 generations, followed by head
selection in F6. Thus selection is delayed until F6 generation. By that time sizeable homozygosity
is reached. This material is space-planted and selection is made of the desired plants from the
population. These selections treated as families are evaluated in the same way as in the pedigree
method, and best progenies are released as varieties.

(iii) Backcross Method

Suppose, again there is a commercial crop variety which has all the good characters
except its susceptibility to a certain hazard, as for instance, a fungal or bacterial disease. The
breeder would like to add disease resistance to this otherwise a very fine variety, maintaining all
its good attributes. The way open to him to achieve this object is to find another variety which
carries disease resistance and not necessarily other desired characters and to hybridize it with the
commercial variety. The hybrid between the two may develop resistance if disease resistance is a
dominant character, otherwise the hybrid may either be selfed or back-crossed to the resistant
parent followed by selection of the recessive resistant plants. The resistant plants are then
repeatedly back-crossed to the commercial variety and selfed as the case may be for a number of
generations and selections made until all the original good characters of the commercial variety
are restored to it along with the ability to resist disease. The last progeny, if heterozygous for
disease resistance, should be selfed to obtain homozygous resistant plants.

B. Cross-Pollinated Crops

As you might have noted, the breeding methods employed in the self-pollinated crops
aim at evolving varieties that are homozygous or near homozygous. The idea is to assemble the
desired genes in a variety, in a homozygous condition. On the other hand, in cross-pollinated
crops, the ultimate aim of breeding is to develop a variety in a heterozygous condition.
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The cross-pollinated crops as they have evolved, maintain their natural vigour, only when
heterozygous. If such a cross-pollinated population is selfed to make it homozygous, it will
suffer depression in yield, which is called inbreeding depression. Maize, an important cereal
belongs to the cross-pollinated group, and suffers inbreeding depression on selfing. The
philosophy in maize breeding therefore is to maintain heterozygosity to keep up hybrid vigour.
So all the breeding methods used in maize aim at the evolution of hybrid (heterozygous)
populations. For instance a new maize variety may be a single cross, a double cross, a three-way
cross or a synthetic, evolved by combining suitable inbred lines.

A single cross involves two inbred lines, i.e., (A x B) while a double cross is a cross
between two single crosses i.e., (A x B) (C x D) and is not so uniform as a single cross. A three-
way cross is obtained by crossing an inbred line with a single cross and a synthetic variety is
evolved by crossing several tested inbred lines.

PROBLEMS

1. Define plant breeding and explain its genetic basis.

2. Name some of the self-pollinated and cross-pollinated crops, commonly cultivated in the
country. Explain that the breeding philosophy for both is basically the same.

3. Describe briefly the salient features of important breeding methods like introduction, single
plant selection, pure line selection and mass selection.

4. Explain how pedigree method differs from the bulk method of breeding.

5. What is the fundamental difference between wheat breeding, and maize breeding.
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Glossary of Some Genetic Terms

1. Acquired characters. A change or modification impressed on an organism by the

environmental influences during the course of development e.g., development of muscles by
exercise, acquiring skills by practice.

2. Allelomorph or Allele. Alternative form of a gene: a member of a pair of genes occurring on

the same locus in homologous chromosome and for this reason inherited in alternative pairs
entering into different gametes. A gene can exist in several alternative forms, each of which is an
allele. For instance, a gene controlling expressions of colour can have a number of alleles, each
one determining a different shade of that colour.

3. Backcross. The cross of the F1 with one of its parents. The cross of the hybrid with the
recessive parent is called test cross.

4. Bivalent. A pair of synapsed or paired homologous chromosome during meiosis.

5. Centromere. Spindle fibers attachment region on the chromosome some, which controls
chromosomal movements during cell division.

6. Character. Characteristic or Trait. The Mendelian characters in genetics means the end
product of development process which is under the control of the interaction of genes and the
environments

7. Chromatid. The longitudinal half of the replicated chromosome; appears during prophase and
later becomes daughter chromosomes on the completion of the cell division.

8. Chromatin. The part of the nucleus, which forms the chromosomal net-work; is readily stained
by specific dyes that is why the name “chromatin”.

9. Chromosomes. Microscopically small, threadlike, darkly staining bodies; visible in the

nucleus at the time of the cell division; the number in any species constant; carry genes arranged
in a linear order.

10. Cistron. According to the rnodern concept, a unit of function.

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11. Deterrniner (Gene). An element carried on the chromosome which controls the development
and expression of Mendelian character.

12. Dihybrid. An individual which is heterozygous with respect to two pairs of genes (AaBb).

13. DNA. Deoxyribonucleic acid, the chemical basis of heredity.

14. Diploid. Organisms having two sets of chromosomes. The body cells of higher plants and
animals are diploid for their chromosome number (2n), whereas their gametes are haploid (n).

15. Dominant and Recessive Alleles. In a diploid individual, each character is represented by a
pair of alleles. The two alleles may be alike or different. In the latter case, one of the two
different alleles may be powerful enough to hide the effect of the other. In that case, the former is
called the dominant and the weaker one, the recessive allele.

16. Dyad. A replicated chromosome during meiotic division composed of two chromatids, also.
applied to daughter nuclei formed as a result of meiotic division.

17. F1. The first filial generation resulting from a cross. If the parents entering the cross are
homozygous, the F1 individual will also be genetically uniform.

18. F2. The second filial generation produced by crossing or self pollinating the F1 individuals;
the F2 generation is the segregating generate ion in which the number of different segregates
obtainable depends upon the number of heterozygous gene pairs involved and also the size of the
population.

19. Gamete. A mature germ cell with haploid chromosome number which produces the zygote
with diploid chromosome number on fertilization.

20. Gametophyte. The particular phase in the life-cycle of plants which produces gametes; it
carries (n) chromosome number.

21. Genotype. The sum-total of the genes affecting the expression of a character.

22. Gene. The hereditary unit carried on the chromosome; it controls the development of a
character.