Chapter 3:

Gene Segregation
and
interaction
• In 1909, Wilhelm Johannsen (1857-1927) pointed out the difference
between phenotype and genotype.

Genotype – is the genetic constitution that an individual inherits

Phenotype – appearance of the organism- its morphology, physiology
and behavior

• In the lifetime of this individual, therefore, the phenotype may change but
the genotype remains constant because the phenotype results from
complex network of interactions between different genes and between
genes and the environment
 A. LAW OF SEGREGATION
 Mendel’s work on garden peas – testing of 7 characters individually by hybridizing 2
varieties showing alternative traits like tall and short or yellow-seeded plant and of
green-seeded plant.

 The parental plants (P generation) were from pure breeding lines or varieties and
were therefore homozygous for the specific character.

 Ex. The cross between round-seeded plants and wrinkled-seeded ones yielded a first
generation progeny (F1 or fist filial generation) that produce round seeds. When F1
plants were self fertilized, ex. of round seeds and wrinkled seeds appeared in the
second generation or F2.
 A. LAW OF SEGREGATION
 The following patterns was established from summarizing the results of Mendel’s
hybridization works:

1. For any character, the F1 showed one of the alternative traits. Such character that was
shown was dominant and the character that was hidden was recessive.
2. Reciprocal crosses gave the same results.
3. The trait that did not appear in the F1 reappeared in the F2, but in a frequency of ¼ of the
total number.

 Each parent must have contributed equally to the progeny

 Supported by F2 a 3:1 segregation of the dominant: recessive trait was observed
 Meaning, F1 contains the two alternative factors or is heterozygous, Rr.
 These two factors or alleles separate or segregate from each other during gamete formation
in the F1, so that some gametes carry R and the others, r.
 A. LAW OF SEGREGATION
 These 2 types of gametes occur at equal frequencies in the ova and in the pollen grains.

 Self-fertilization of the F1 causes the random combinations of the male and female gametes
to form the F2 embryos, accounting for the 1:2:1 genotypic ratio and 3:1 phenotypic ratio as
follows:
 A. LAW OF SEGREGATION
 The inheritance of seed characteristics follow complete dominance.

 The homozygous dominant (RR) and heterozygous (Rr) exhibited the same phenotype
(round).

 If there is a complete dominance, the expected F2 ratio is 3:1 (round: 1 wrinkled).

 For completed dominance, the presence of 1 dominant allele will be enough to express the
dominant trait.

 Hence, phenotypes of RR and Rr are the same.

 In this result, Mendel proposed his Law of Segregation.

 B. THE LAW OF SEGREGATION
 States that unit of hereditary characters (e.g., round vs wrinkled) occur in pairs, and
that in the formation of gametes during meiosis, these separate from each other so
that only one member of the pair goes into a particular gamete

 It is a matter of chance whether a particular gamete gets the dominant or the

recessive allele.
 Fusion of the male and female gametes during fertilization to form the embryo will
restore the diploid number

 applies to the behavior of a single pair of allele or a single gene

 The result of Mendel’s experiments are summarized in Table 3-1.

 B. LAW OF INDEPENDENT ASSORTMENT
 Applies when two or more gene/pairs of alleles are considered simultaneously

 States that genes for different characters are inherited independently of one another
or alleles of different gene pairs separate independently from each other and
randomly combine during meiosis.

 Mendel based his second law on

the result of his dihybrid crosses,
as follows:
 B. LAW OF INDEPENDENT ASSORTMENT
 Each pair R vs. r and Y vs y segregated independently of each other, that is, the
chances for a plant to be round or wrinkled do not interfere with, or are independent
of, its chances to become yellow or green.

 A simple mathematical procedure may be applied to obtain the F2 phenotypic and

genotypic ratios. The procedure consists of calculating the probability of the genotype
or phenotype separately for each gene pair and then multiplying these probabilities.

 The F2 phenotypic ratio of this dihybrid

may be computed as follows:
 B. LAW OF INDEPENDENT ASSORTMENT

 The phenotypic ratio is 9:3:3:1. Chi-square tests on the data showed good fit to the
expected 9:3:3:1 ratio, proving the independent assortment of the two gene pairs.

 The F2 genotypic ratio of this dihybrid

may likewise be determined as follows:
 B. LAW OF INDEPENDENT ASSORTMENT
 The independent assortment Mendel observed in dihybrid crosses was also observed
in trihybrids and other hybrids involving more than these genes.

 The formula regarding the progenies of hybrids between parents that differ in the
number of genes is as follows: number of gene pairs = n; kinds of gametes = 2n, kinds
of genotypes = 3n; kinds of phenotypes = 2n.
 C. CHROMOSOMAL BASIS OF MENDELIAN LAWS
 Walter Sutton and Theodor Boveri in 1900 found correlations between the behavior
of the allele in a gene pair and homologous chromosomes during meiosis.

 The correlations noted were as follows: If the allele exist in pair; if the alleles in a
gene pair separate, the homologous chromosome also separate at anaphase I of
meiosis; and the allele and the chromosomes are in pairs immediately after
fertilization.
D. SEGREGATION AND ASSORTMENT IN HAPLOID ORGANISMS

 In some microorganisms, the ,major portion of life cycle is in haploid

stage

 They become diploid during sexual conjugation, which is immediately

followed by meiosis and the consequent formation of new haploid
clones.

 Phenotypically, each allele is not masked by an allelic mate and

segregation and assortment between genes give different phenotypic
ratios from those in diploid organisms.
• For example, the single-celled alga,
Chlamydomonas reinhardi, has the
alternative trait, yellow vs green. Since this
is a haploid species, each cell carries only
one allele of this gene, either yellow, y or
normal , y+.

• Ratio : 1 normal : 1 yellow

• Note that the ratio is identical to 1:1

gametic segregation ratios that occur in
diploid organisms

• Note further that the genotypic and

phenotypic ratios are the same.
 D. SEGREGATION AND ASSORTMENT IN HAPLOID ORGANISMS

 When there are two gene differences, an independent assortment of genes can also
be observed. However, the ratios will not be the same as those of diploid organisms.

 I.e., in addition to the yellow vs normal alternatives, the mating type alternatives mt+
vs mt- are considered.
D. SEGREGATION AND ASSORTMENT IN HAPLOID ORGANISMS
 One advantage in using microorganisms like Chlamydomonas and Neurospora is their ability
to recover all four haploid meiotic products (tetrad) of an individual zygote

 Each product can be separately cultured and the products’ phenotypes and genotypes
analyzed.

 It is also possible to determine first division and second division segregations.

 First division segregation means that the separation of different parent alleles occurs in the
first meiotic division

 Second division segregation is the result of a crossover between two chromatids of the
homologues in the region between the genes and the centromere so that the two different
alleles remains together in the a Meiosis I products, but separate in Meiosis II.
 E. DOMINANCE RELATIONSHIPS
 Mendel’s work demonstrated complete dominance relationship between two
different alleles for each gene pair

 As more experiments were conducted, some phenotypes and ratios could not be
explained on the basis of complete dominance

 These exceptions did not in any way disprove Mendel’s principles; rather, they
extended and developed them.
1. Incomplete dominance or no dominance
 In this case dominance is absent and the
progeny does not resemble any of its parents.

 The F1 are intermediate between the two

parents, e.g., flower color in Mirabilis jalapa
(four o’clock plant)
2. Overdominance

 In case of overdominance, the heterozygote

exceeds the phenotypic measurements of the
homozygous parents.

 For example, the heterozygous w+/w in

Drosophila has a higher amount of flourescent
pigments (sepiapteridine and himmelblaus)
than those of the white (w/w) and wild type
(w+w+) homozygotes.
3. Co-dominance
 When each allele of a gene is associated with a specific substance, co-dominance
will occur when both substances appear together in the heterozygote, e.g., M-N
blood types in man.

 Landsteiner and Levine (1927) were able to classify people into three general
types based on the agglutination characteristics of the red blood cells.
 F. MULTIPLE ALLELES
 It is generally assumed that a gene pair has only two alleles

 This condition arises from the presence of homologous pairs of chromosomes in the diploid
organism and each one contains one allele of the gene pair

 However, there are many reported cases where more than two alleles exist in a gene and are
defined as a system of multiple alleles.

 In the multiple allelic system, the alleles act within the same phenotypic range and are called
isoalleles.

 Many such isoalleles have been discovered, some within the phenotypic range of an abnormal
character, mutant isoalleles, and some within the phenotypic range of a wild type, normal
isoalleles.
 F. MULTIPLE ALLELES
 A multiple allelic system may, therefore, be quite complex, including various subsidiary
isoallelic systems.

 Some examples are ABO blood groups in humans.

 Landsteiner (1900) classified people

into four groups according to the
antibodies (agglutinins) present in the
serum and the antigens (agglutinogens)
present in the red blood cells
(Table 3-2)
 F. MULTIPLE ALLELES
 There are many other blood group systems in humans and about half of them are multiple allelic systems (Table 3-3)

 Haploid organisms also have multiple allelic systems but unlike the diploid organisms which have two alleles at a
time, they only have one allele in every organism.
 G. LETHAL GENES
 Certain genes can cause death of an organism

 These genes may exert their effect early in life so that death comes when the embryo
is newly formed.

 In other cases the embryo may develop normally for a time and then die at later stages
of embryonic development

 Lethality may exist as recessive lethals or dominant lethals.

1. Recessive lethals
 are those that are lethal when in the homozygous
recessive condition. These genes may have
dominant or recessive phenotypic effect

1.1. Lethal genes, which have dominant

phenotypic effect in the heterozygote, are
lethal in the homozygous recessive
condition. For ex., heavy freckling in humans
caused by the gene for Xeroderna
pigmentosum is a dominant phenotypic
effect which becomes lethal when the gene
is homozygous recessive
1. Recessive lethals
1.2. Lethal genes whose phenotypic effects are
ordinarily recessive have no observable
phenotypic effect in the heterozygote but
produce a noticeable and eventually lethal
change in homozygous recessives, e.g.,
infantile amaurotic idiocy in humans.
2. Dominant lethals
 are genes whose lethal effects occur when
a dominant allele is present in a
homozygous or heterozygous condition.
For instance, the heterozygote of the gene
for epiloia in human results in abnormal
skin growths, severe mental defects and
multiple tumors, causing early death.

 Huntington’s disease which results in

progressive degeneration of the central
nervous system can cause death when a
heterozygous individual reach 40 years
old
3. Penetrance of lethal gene
 The penetrance of lethal genes, recessive or dominant, may vary. Some lethal
genes have a high degree of penetrance and expression, allowing little or no
survival among the affected genotypes beyond the embryonic stage. Other called
the semi-lethals permit a large proportion of affected genotypes to survive
4. Environmental influence on lethal genes
 Some lethal genes may be influenced by the environment in the sense that the organism
may be able to survive under permissive conditions and cause lethality under restrictive
conditions. Such lethals are called conditional lethals. Several patterns of lethality have
been observed.

4.1 Occurrence of lethality by exposure of the organism to the restrictive condition

during specific period of development (monophasic)
4.2 Lethality because of exposure to the restrictive condition during any two or more
(polyphasic) developmental stages.
4.3 Possession by lethal-bearing males and females (sexual dimorphic) of different
temperature-sensitive stages.
4.4 Occurrence of lethality by exposure to restrictive condition at any stage of
development
 H. MODIFIER GENES
 Modifiers – are genes that change the phenotypic effects of other genes in a
quantitative fashion

 The specific modes of action of the modifiers are not always known but as a rule,
modification is achieved either through dilution or enhancement of the effects of the
major genes.

 Modifiers of mutant genes also exist and in some cases they completely suppress the
phenotypic expression of he mutant gene.

 Such modifiers are called suppressors. Modifiers may be dominant or recessive; they
have large or small quantitative phenotypic effects.
 I. GENE INTERACTIONS
 Bateson and Punnett (1905), discovered that genes were not merely separate
elements producing distinct individual effects, but they could interact with one
another giving entirely different phenotypes.

 These interactions result in phenotypic ratios different from those of

independent assortment: the modified ratios.
1. Novel Phenotypes
 There is complete dominance in both gene pairs.

 New phenotypes result from interaction between dominants, and also from
interaction between both homozygous recessives, e.g., comb shape in poultry
2. Recessive Epistasis
 There is complete dominance in both gene pairs, but one gene, when homozygous
recessive, hides or masks the effect of the other, e.g., mouse coat color

 interaction: The homozygous recessive (cc) is epistatic to agouti and black

interaction: The homozygous recessive (cc) is epistatic to agouti and black
3a. Dominant Epistasis
 There is complete dominance at both gene pairs, but one gene, when dominant,
masks the effect of the other, e.g., fruit color in summer squash
3b. Dominant Epistasis
 There is complete dominance at both gene pairs, but one gene, when dominant, is epistatic
to the second. The second gene, when homozygous recessive, is epistatic to the first, e.g.,
feather color in fowl.

Interaction: Dominant color inhibitor (I_) prevents color even when color gene is present; color gene (cc)
when homozygous recessive prevents color even when dominant inhibitor is absent.
4. Complementary Genes
 There is complete dominance at both gene pairs, but either recessive homozygote is epistatic
to the effects of the other gene, e.g., flower color in pea. Both genes P and C are required for
pigment production.
4. Complementary Genes
 Interaction: The genes P and C produce enzymes that catalyze successive steps in a chemical
process leading to production of pigments, as follows:
5. Duplicate Genes
 There is complete dominance in both gene pairs, but either gene, when dominant, is epistatic
to the other, e.g., seed capsule of Shepherd’s purse (Bursa)

Interaction: A dominant allele at either gene pair hides the effect of the ovoid
 J. PSEUDOALLELES
 First demonstrated by E.B. Lewis in 1951 when he analyzed the Star-asteroid case in Drosophila.

 He found a recessive mutation in Drosophila producing a small rough eye when homozygous.

 It was found in same location as Star, a dominant characteristic

 The criteria of multiple allelism include satisfying same location on the chromosome and having similar
function

 However, when a large number of progeny of Star x Star-recessive were classified, a few wild type
recombinants were identified which represented the crossover between the 2 loci

 This indicate that Star and Star-recessive were 2 different mutants closely situated on the chromosome,
therefore, they are pseudoalleles.

 The Star-recessive was then renamed asteroid (ast) and the dominant mutant Star (S).
 J. PSEUDOALLELES
 Further observations showed that the 2 types of heterozygous produced different phenotypes as follows:

 This phenomenon was called Lewis Effect or Position Effect where phenotype was determined not only by the
genotype but also by the position of the alleles on the chromosome.

 When 2 dominants S and AST, are on the same chromosome and their recessive counterparts are on the
other chromosome (cis form), normal eyes are produced.

 The Trans form, one dominant and one recessive on one chromosome and their respective recessive and
dominant alleles on the other chromosome produced much reduced eyes.
K. Environmental Influence on Gene Expression
 The phenotype of an organism is the product of interaction of its gene and its environment.

 The genotype provides the messages and direction for phenotypic growth and behavior; and the
environmental factors, such as food, suitable temperature, and light must be supplied so that the
organism may develop and continuously exist.

 The developmental stage has many individual steps and at each step, interaction between
genotype and environment occurs.

 One cannot definitely say that a particular gene determines a particular character, much true to say
that phenotype is the result of the close-knit interaction among many factors at many levels of
development.

 Genotype may give rise to different phenotypes in different environment which certain genotypes
may be adapted to one environment and may not survive in another environment
K. Environmental Influence on Gene Expression
 Its now easy to see that the genotype determines the range of phenotypes that may
develop which referred to as the range of reaction of the genotype.

 Phenotype that will be realized depends on the environment in which development takes
place, meaning, one will not be able to know the entire range of reactions of genotype
because it is not possible to expose an individual to all possible kinds of environments.
K. Environmental Influence on Gene Expression
 A. Definition of Terms

1.1 Penetrance refers to the proportion of genotypes that show an expected phenotype. It
is a statistical concept of the regularity with which the gene is expressed

1.2 Expressivity is the degree to which a particular phenotypic effect is expressed by the
individual

1.3 Pleiotropy is a situation in which one gene has multiple phenotypic effects

1.4 Phenocopy means an environmental mimic of gene action, in instance, the

environmental influence is sufficiently strong so that the resulting phenotype
simulates the effect of certain genes.
K. Environmental Influence on Gene Expression
 B.External Environment

2.1 Temperature. There is a close correlation between the rate of chemical reactions and
temp. Since basic developmental effect of many genes is to control the rate of specific
reaction, a change in temp can be expected to have widespread effect on
development

2.2 Light. Energy provided by light and light itself is essential for growth and development
of plants and animals. Ex. Seeds grown in the dark cannot survive long because
chlorophyll is not developed event though there are genes for chlorophyll
development
K. Environmental Influence on Gene Expression
 B. External Environment

2.3 Nutrition. Food provides energy for carrying out necessary processes and materials
that must be incorporated into necessary structures. Genetically, different organisms,
even of same species, usually differ in kind and amount of nutrients they require.
Depending upon its genotype, simple dietary changes can lead to different phenotypes

2.4 Maternal Relations. In case of mammals where the body relations between parent and
progeny extend beyond fertilization, interaction between the fetus and the maternal
environment occurs.
K. Environmental Influence on Gene Expression
 C. Internal Environment

3.1 Age. As individual grow older, there are certain phenotypic changes that occur which
allows further genotypic effects to be expressed.
K. Environmental Influence on Gene Expression
 C. Internal Environment
3.1 Age. As individual grow older, there are certain phenotypic changes that occur which
allows further genotypic effects to be expressed.

In all cases, the genes responsible for the particular trait are present after fertilization;
only the appearance of the effect depends on the age of the organism
K. Environmental Influence on Gene Expression
 C. Internal Environment
3.2 Sex. Sexual phenotypic differences
are evident in the reproductive
structures and specialized behavior of
each sex.
K. Environmental Influence on Gene Expression
 C. Internal Environment
3.2.1. Some traits are sex-limited in the sense that they appear in one sex and not in the
other. E.g., genes that influence milk yield in human and dairy cattle.

3.2.2. Some hereditary traits are more common in one sex than the other. These are
called sex-controlled or sex-influenced traits such as harelip, pattern baldness and
gout occuring more frequently on men than in women.
K. Environmental Influence on Gene Expression
END
OF
COURSE
PACKET 03