Submitted By:

Tanzeel Ur Rehman

Submitted To:
Dr. Farheen Bhatti
Subject:
Botany
Roll No.
13215
Department:
Zoology
Program:
BS. Zoology (4th Semester) Evening
Government College University Faisalabad
 Q.no 1: write a short note:

The law of segregation:

 Gregor Mendel studied inheritance of traits in pea plants. He proposed a model

where pairs of "heritable elements," or genes, specified traits.

 Genes come in different versions, or alleles. A dominant allele hides

a recessive allele and determines the organism's appearance.

 When an organism makes gametes, each gamete receives just one gene copy,
which is selected randomly. This is known as the law of segregation.

 A Punnett square can be used to predict genotypes (allele combinations)

and phenotypes (observable traits) of offspring from genetic crosses.

 A test cross can be used to determine whether an organism with a dominant

phenotype is homozygous or heterozygous.

According to the law of segregation, only one of the two gene copies present in an
organism is distributed to each gamete (egg or sperm cell) that it makes, and the
allocation of the gene copies is random. When an egg and a sperm join in
fertilization, they form a new organism, whose genotype consists of the alleles
contained in the gametes.

The four-squared box shown for the \text F_2F2start text, F, end text, start
subscript, 2, end subscript generation is known as a Punnett square. To prepare a
Punnett square, all possible gametes made by the parents are written along the top
(for the father) and side (for the mother) of a grid. Here, since it is self-fertilization,
the same plant is both mother and father.

The combinations of egg and sperm are then made in the boxes in the table,
representing fertilization to make new individuals. Because each square represents
an equally likely event, we can determine genotype and phenotype ratios by
counting the squares.

The law of independent assortment

The law of segregation lets us predict how a single feature associated with a single
gene is inherited. In some cases, though, we might want to predict the inheritance
of two characteristics associated with two different genes. Mendel's law of
independent assortment states that the alleles of two (or more) different genes get
sorted into gametes independently of one another. In other words, the allele a
gamete receives for one gene does not influence the allele received for another
gene.
Example: Pea color and pea shape genes

Let's look at a concrete example of the law of independent assortment. Imagine

that we cross two pure-breeding pea plants: one with yellow, round seeds (YYRR)
and one with green, wrinkled seeds (yyrr). Because each parent is homozygous, the
law of segregation tells us that the gametes made by the wrinkled, green plant all
are ry, and the gametes made by the round, yellow plant are all RY. That gives
us \text F_1F1start text, F, end text, start subscript, 1, end subscript offspring that
are all RrYy.

The allele specifying yellow seed color is dominant to the allele specifying green
seed color, and the allele specifying round shape is dominant to the allele
specifying wrinkled shape, as shown by the capital and lower-case letters. This
means that the \text F_1F1start text, F, end text, start subscript, 1, end
subscript plants are all yellow and round. Because they are heterozygous for two
genes, the \text F_1F1start text, F, end text, start subscript, 1, end subscript plants
are called dihybrids (di- = two, -hybrid = heterozygous).

A cross between two dihybrids (or, equivalently, self-fertilization of a dihybrid) is

known as a dihybrid cross. When Mendel did this cross and looked at the
offspring, he found that there were four different categories of pea seeds: yellow
and round, yellow and wrinkled, green and round, and green and wrinkled.
These phenotypic categories (categories defined by observable traits) appeared in
a ratio of approximately 9:3:3:19:3:3:19, colon, 3, colon, 3, colon, 1.
This ratio was the key clue that led Mendel to the law of independent assortment.
That's because a 9:3:3:19:3:3:19, colon, 3, colon, 3, colon, 1 ratio is exactly what
we'd expect to see if the \text F1F1start text, F, end text, 1 plant made four types of
gametes (sperm and eggs) with equal frequency: YR, Yr, yR, and yr. In other words,
this is the result we'd predict if each gamete randomly got a Y or y allele, and, in a
separate process, also randomly got an R or r allele (making four equally probable
combinations).

We can confirm the link between the four types of gametes and
the 9:3:3:19:3:3:19, colon, 3, colon, 3, colon, 1 ratio using the Punnett square
above. To make the square, we first put the four equally probable gamete types
along each axis. Then, we join gametes on the axes in the boxes of the chart,
representing fertilization events. The 161616 equal-probability fertilization events
that can occur among the gametes are shown in the 161616 boxes. The offspring
genotypes in the boxes correspond to a 9:3:3:19:3:3:19, colon, 3, colon, 3, colon,
1 ratio of phenotypes, just as Mendel observed.
Backcross
Backcross the mating of a hybrid organism (offspring of genetically unlike parents)
with one of its parents or with an organism genetically similar to the parent. The
backcross is useful in genetics studies for isolating (separating out) certain
characteristics in a related group of animals or plants. In animal breeding, a
backcross is often called a top cross. Grading usually refers to the mating of
average, or “grade,” females to a superior male, then backcrossing the female
offspring to the same or a similar sire.
Experiment # i. Back Cross:

When F1 individuals are crossed with one of the two parents (either CC—red
flowered or cc—white flowered) from which they have been derived, then such a
cross is called back cross.

In such cases there are two possibilities

(A) When F1 (Cc) is crossed to the parent with dominant phenotype i.e.,
homozygous for red colour (CC). In such a cross plants will be 100% red.
(B) When F1 plant (Cc) is crossed to the parent with pure recessive (cc) white
flowered plant. In such a cross 50% plants will be red flowered and 50% plants
will be white flowered.

Advantages

 If the recurrent parent is an elite genotype, at the end of the backcrossing

programs an elite genotype is recovered.
 As there is no "new" recombination, the elite combination is not lost.
Disadvantages
 Works poorly for quantitative traits
 Is more restricted for recessive traits
 For very wide crosses, limited recombination may maintain thousands of ‘alien’
genes within the elite cultivar.
The test cross
Mendel also came up with a way to figure out whether an organism with a
dominant phenotype (such as a yellow-seeded pea plant) was a heterozygote (Yy)
or a homozygote (YY). This technique is called a test cross and is still used by
plant and animal breeders today.

In a test cross, the organism with the dominant phenotype is crossed with an
organism that is homozygous recessive (e.g., green-seeded):

If the organism with the dominant phenotype is homozygous, then all of the \text
F_1F1start text, F, end text, starts subscript, 1, end subscript offspring will get a
dominant allele from that parent, be heterozygous, and show the dominant
phenotype. If the organism with the dominant phenotype organism is instead a
heterozygote, the \text F_1F1start text, F, end text, start subscript, 1, end
subscript offspring will be half heterozygotes (dominant phenotype) and half
recessive homozygotes (recessive phenotype).

The fact that we get a 1:11:11, colon, 1 ratio in this second case is another
confirmation of Mendel’s law of segregation.
Incomplete dominance

Mendel’s results were groundbreaking partly because they contradicted the (then-
popular) idea that parents' traits were permanently blended in their offspring. In
some cases, however, the phenotype of a heterozygous organism can actually be a
blend between the phenotypes of its homozygous parents.

For example, in the snapdragon, Antirrhinum majus, a cross between a

homozygous white-flowered plant (C^WC^WCWCWC, start superscript, W, end
superscript, C, start superscript, W, end superscript) and a homozygous red-
flowered plant (C^RC^RCRCRC, start superscript, R, end superscript, C, start
superscript, R, end superscript) will produce offspring with pink flowers
(C^RC^WCRCWC, start superscript, R, end superscript, C, start superscript, W,
end superscript). This type of relationship between alleles, with a heterozygote
phenotype intermediate between the two homozygote phenotypes, is
called incomplete dominance.

We can still use Mendel's model to predict the results of crosses for alleles that
show incomplete dominance. For example, self-fertilization of a pink plant would
produce a genotype ratio of 111 C^RC^RCRCRC, start superscript, R, end
superscript, C, start superscript, R, end superscript ::colon 222 C^RC^WCRCWC,
start superscript, R, end superscript, C, start superscript, W, end
superscript ::colon 111 C^WC^WCWCWC, start superscript, W, end superscript,
C, start superscript, W, end superscript and a phenotype ratio of 1:2:11:2:11, colon,
2, colon, 1 red:pink:white. Alleles are still inherited according to Mendel's basic
rules, even when they show incomplete dominance.

Dominance

A form of dominance wherein the dominant allele completely masks the effect of
the recessive allele in heterozygous condition.
Supplement
In genetics, dominance pertains to the property of a gene (or allele) in relation to
other genes or alleles. A gene or allele shows dominance when it suppresses
the expression, or dominates the effects, of the recessive gene (or allele).
There are many forms of dominance:
1. Complete dominance,
2. Incomplete dominance,
3. Codominance.
Complete dominance is a form of dominance in heterozygous condition wherein
the allele that is regarded as dominant completely masks the effect of the allele that
is recessive.
For instance, an individual carrying two alleles that are both dominant (e.g. AA),
the trait that they represent will be expressed. But if the individual carries
two alleles in a manner that one is dominant and the other one is recessive, (e.g.
Aa), the dominant allele will be expressed while the recessive allele will be
suppressed. Hence, the heterozygote (Aa) will have the same phenotype as that of
the dominant homozygote (AA). This condition is called complete dominance.

Q.no 2: Describe briefly DNA replication, nature of genes and genetic code?

DNA Replication

A DNA strand can act as a template for synthesis of a new nucleic acid strand in
which each base forms a hydrogen-bonded pair with one on the template strand (G
with C, A with T, or A with U for RNA molecules). The new sequence is thus
complementary to the template strand. The copying of DNA molecules to produce
more DNA is known as DNA Replication. DNA replication takes place at a Y-
shaped structure called a replication fork. A self-correcting DNA polymerase
enzyme catalyzes nucleotide polymerization in a 5ʹ-to-3ʹ direction, copying a DNA
template strand with remarkable fidelity. Since the two strands of a DNA double
helix are antiparallel, this 5ʹ-to-3ʹ DNA synthesis can take place continuously on
only one of the strands at a replication fork (the leading strand).

On the lagging strand, short DNA fragments must be made by a “backstitching”

process. Because the self-correcting DNA polymerase cannot start a new chain,
these lagging-strand DNA fragments are primed by short RNA primer molecules
that are subsequently erased and replaced with DNA.

Major steps involved in DNA replication:

 Identification of the origins of replication

 Unwinding (denaturation) of dsDNA to provide an ssDNA template
 Formation of the replication fork
 Initiation of DNA synthesis and elongation
 Primer removal and ligation of the newly synthesized DNA segments
 Reconstitution of chromatin structure

Components of Replication

 DNA polymerases- Deoxy nucleotide polymerization

 Helicase -Processive unwinding of DNA
 Topoisomerases Relieve torsional strain that results from helicase-induced
unwinding
 RNA primase Initiates synthesis of RNA primers
 Single-strand binding proteins Prevent premature reannealing of dsDNA
 DNA ligase Seals the single strand nick between the nascent chain and
Okazaki fragments on lagging strand

Origin of Replication

 Functionally similar autonomously replicating sequences (ARS) or

replicators have been identified in yeast cells.
 The ARS contains a somewhat degenerate 11-bp sequence called the origin
replication element (ORE).
 The ORE binds a set of proteins, analogous to the dnaA protein of E coli,
which is collectively called the origin recognition complex (ORC).
 The ORE is located adjacent to an approximately 80-bp A+T-rich sequence
that is easy to unwind. This is called the DNA unwinding element (DUE).
 Unwinding of DNA
  The interaction of proteins with ori defines the start site of replication and
provides a short region of ssDNA essential for initiation of synthesis of the
nascent DNA strand.
 DNA Helicase allows for processive unwinding of DNA.
 Single-stranded DNA-binding proteins (SSBs) stabilize this complex.
 In cooperation with SSB, this leads to DNA unwinding and active
replication.

Formation of the Replication Fork

 The polymerase III holoenzyme binds to template DNA as part of a

multiprotein complex
 DNA polymerases only synthesize DNA in the 5' to 3' direction,
 Because the DNA strands are antiparallel , the polymerase functions
asymmetrically.
 On the leading (forward) strand, the DNA is synthesized continuously.
 On the lagging (retrograde) strand, the DNA is synthesized in short (1–5
kb)fragments, the so-called Okazaki fragments.

Formation of Replication Bubbles

 Replication occurs in both directions along the length of DNA and both
strands are replicated simultaneously.
 This replication process generates "replication bubbles"

The DNA Polymerase Complex

  A number of different DNA polymerase molecules engage in DNA
replication. These share three important properties: (1) chain elongation, (2)
Processivity, and (3) proofreading.
 Chain elongation accounts for the rate (in nucleotides per second) at which
polymerization occurs.
 Processivity is an expression of the number of nucleotides added to the
nascent chain before the polymerase disengages from the template.
 The proofreading function identifies copying errors and corrects them
 DNA Polymerase Complex
 In E coli, polymerase III (pol III) functions at the replication fork. Of all
polymerases, it catalyzes the highest rate of chain elongation and is the most
processive.
 Polymerase II (pol II) is mostly involved in proofreading and DNA repair.
 Polymerase I (pol I) completes chain synthesis between Okazaki fragments
on the lagging strand.

Initiation & Elongation of DNA Synthesis

 Primer-The priming process involves the nucleophilic attack by the 3'-

hydroxyl group of the RNA primer on the phosphate of the first entering
deoxynucleoside triphosphate with the splitting off of pyrophosphate.
 Mammalian DNA polymerase Alpha is mainly responsible for the synthesis
of primer.
 Selection of the proper deoxyribonucleotide whose terminal 3'hydroxyl
group is to be attacked is dependent upon proper base pairing with the other
strand of the DNA molecule according to the rules proposed originally by
Watson and Crick
 When an adenine deoxyribonucleoside monophosphoryl moiety is in the
template position, a thymidine triphosphate will enter and its phosphate will
be attacked by the 3'hydroxyl group of the deoxyribonucleoside
monophosphoryl most recently added to the polymer.
 By this stepwise process, the template dictates which deoxyribonucleoside
triphosphate is complementary and by hydrogen bonding holds it in place
while the 3'-hydroxyl group of the growing strand attacks and incorporates
the new nucleotide into the polymer.
Base pairing in DNA Replication

Formation of super coils

Primer removal and Nick sealing

 Primers are removed by DNA polymerase I by replacing ribonucleotides

with deoxy Ribonucleotides.
 Nicks are sealed by DNA ligase
 Multiple primers on the Lagging strand while single primer on the leading
strand.

Termination of replication

 In prokaryotes: DNA replication terminates when replication forks reach

specific “termination sites”.
 The two replication forks meet each other on the opposite end of the parental
circular DNA.
 This process is completed in about 30 minutes, a replication rate of 3 x 105
bp/min in prokaryotes.
 The entire mammalian genome replicates in approximately 9 hours, the
average period required for formation of a tetraploid genome from a diploid
genome in a replicating cell.

Reconstitution of Chromatin Structure

 Chromatin structure must be re-formed after replication. Newly replicated

DNA is rapidly assembled into nucleosomes, and the preexisting and newly
 assembled histone octamers are randomly distributed to each arm of the
replication fork.

Summary of Replication

 Unwinding- forms replication fork

 Primase- Synthesizes RNA primer
 Continuous synthesis -Leading strand
 Discontinuous synthesis – Lagging strand (Okazaki fragments)
 Synthesis 5’-3’ direction
 Primers removed, nick sealed
 Proof reading by DNA polymerases
 Organized in to chromatin structure

GENETIC CODE

INTRODUCTION

 “Genetic code is a set of rules by which information encoded in genetic

material (DNA or RNA sequences) is translated into proteins by living
cells.”
 Genetic code is a Dictionary consists of “Genetic words” called CODONS.

The genetic code table

 The full set of relationships between codons and amino acids (or stop
signals) is called the genetic code. The genetic code is often summarized in
a table.
Notice that many amino acids are represented in the table by more than one
codon. An important point about the genetic code is that it's universal codon.
SALIENT FEATURES OF GENETIC CODE

 Genetic code has a “sequence reading frame”. For example the string
GGGAAACCC, if read from the first position contains the codons
GGG,AAA,CCC, and if read from second postion the codons will be
GGA,AAC. Genetic code has “Start and Stop codons”. Start codon is
usually AUG.
 Alternative start codons are GUG or UUG. Stop codons include UAG, UGA
and UAA.
 Genetic code is continuous and non-overlapping.
 Genetic code is Universal.
 Genetic code is Degenerate.

>Degeneracy of code is not uniform.

>Degeneracy results because there are more codons to encode 20 amino acids.

>This property of genetic code makes it more fault-tolerant for “Point mutation”.
  Codon/Anticodon recognition involves wobbling. “5’ base of anticodon that
binds to 3’ base on the mRNA was not spatially confined as the other 2
bases and could does have non-standard base pairing”.

Significance of Genetic code

>Genetic code tells how protein sequence information is stored in nucleic acids
and how that information is translated into proteins.

Function of gene
1. Genes govern the activities of cells through the proteins they encode.
2. In multicellular organisms they control the development of the individual from
the fertilized egg. They also control day-to-day functions of the cells that make
up tissues and organs.
3. Their protein products give mechanical support to the cell structure. These
proteins are also involved in the transportation and manufacture of other
molecules and the regulation of other proteins’ activities.
4. In some cases, the RNA molecules are the actual functional products of gene.
For example, RNAs known as ribozymes are capable of enzymatic function,
and small interfering RNAs have a regulatory role.
The Nature of Genes

Genes are diverse in function and size, yet for most genes certain major
topographical features can be delineated.

A gene was defined simply as a region of DNA capable of being transcribed to

produce a functional RNA molecule. To this we can add that not only does the
gene need to be capable of being transcribed into the functional RNA (for most
genes, an mRNA) but this RNA must also be made at the correct time and in the
correct place in the development of the organism. Only then is the gene properly
functional. To accomplish this, at one end a gene has a regulatory region, a
segment of DNA with a specific nucleotide sequence that enables it to receive and
respond to signals from other parts of the genome or from the environment.
Ultimately these activation signals are converted into regulatory proteins that bind
to the regulatory region of the gene and initiate transcription in the

adjacent RNA-encoding region. At the other end of the gene there is a region that
contains signals to terminate the transcript.

Q.no 3:What are Chromosomal aberrations in terms of

 Numerical - change in no
 Structural – change in structure

Chromosomal aberrations
“Chromosomal aberrations are abnormalities in the structure or number of
chromosomes and are often responsible for genetic disorders”. OR
“Chromosomes are the vehicle of hereditary material or genes. Any
alteration, addition or deletion of chromosomal part leads to alteration of
number, position or sequence of genes in the chromosome”.

In 1959 two discoveries opened a new era of genetics.

Jerome Lejeune, Marthe Gautier, and M. Raymond Turpin discovered the presence
of an extra chromosome in Down syndrome patients. And
C. E. Ford and his colleagues, P. A. Jacobs and J. A. Strong first observed sex
chromosome anomalies in patients with sexual development disorders.

Changes in the number of chromosomes

This is called aneuploidy (an abnormal number of chromosomes), and occurs when
an individual either is missing a chromosome from a pair (monosomy) or has more
than two chromosomes of a pair (trisomy, tetrasomy, etc.). An example of trisomy
in humans is Down syndrome, which is a developmental disorder caused by an
extra copy of chromosome 21; the disorder is therefore also called trisomy 21.
Having an extra copy of this chromosome means that individuals have three copies
of each of its genes instead of two, making it difficult for cells to properly control
how much protein is made. Producing too much or too little protein can have
serious consequences. Genes on chromosome 21 that specifically contribute to the
various symptoms of Down syndrome are now being identified. The frequency of
Trisomy 21 has been determined to be a function of advanced maternal age. An
example of monosomy is Turner syndrome, where the individual is born with only
one sex chromosome, an X.

Euploidy:
Normally organism possesses two sets of chromosomes i.e., they are diploid (2n).
At times there is addition or loss of complete one set (n) or more than one set of
chromosomes is observed. It is called as Euploidy.
Euploidy is of following types:
(i) Haploidy or Monoploidy:
Out of two sets of chromosomes of a normal organism when one set is lost, the
resulting offspring’s have just one set of chromosomes (n).
(ii). Polyploids: An
individual with additional chromosome sets is called a polyploid. Individuals with
three sets of chromosomes (triploids, 3n) or four sets of chromosomes (tetraploids,
4n) are polyploid derivatives of the basic diploid (2n) constitution. Polyploids with
odd numbers of sets (e.g., triploids) are sterile, because homologous chromosomes
pair only two by two, and the extra chromosome moves randomly to a cell pole,
resulting in highly unbalanced, nonfunctional meiotic products. It is for this reason
that triploid watermelons are seedless. However, polyploids with even numbers of
chromosome sets can be fertile if orderly two-by-two chromosome pairing occurs.
Though two organisms from closely related species frequently hybridize, the
chromosomes of the fusing partners are different enough that the two sets do not
pair at meiosis, resulting in sterile offspring. However, if by chance the number of
chromosome sets in the hybrid accidentally duplicates, a pairing partner for each
chromosome will be produced, and the hybrid will be fertile.
Significance of polyploidy:
1. Polyploid plants generally have large flowers, seeds and fruits.
2. Polyploidy acts as a conservative process and stabilizes interspecific hybrids.
3. Polyploidy facilitates gene exchange between distantly related species.
Aneuploids:
Some cells have an abnormal number of chromosomes that is not a whole multiple
of the haploid number. This condition is called aneuploidy. Most aneuploids arise
by nondisjunction, a failure of homologous chromosomes to separate at meiosis.
When a gamete of this type is fertilized by a normal gamete, the zygotes formed
will have an unequal distribution of chromosomes. Such genomic imbalance
results in severe abnormalities or death. W

The most common form of aneuploidy in humans results in Down syndrome, a

suite of specific disorders in individuals possessing an extra chromosome 21
(trisomy 21). The
symptoms of Down syndrome include intellectual disability, severe disorders of
internal organs such as the heart and kidneys, up-slanted eyes, an enlarged tongue,
and abnormal dermal ridge patterns on the fingers, palms, and soles. Turner
syndrome is a condition in which females have only one X chromosome.
Symptoms may include short stature, webbed neck, kidney or heart malformations,
underdeveloped sex characteristics, or
sterility. Klin
efelter syndrome is a condition in which males have one extra female sex
chromosome, resulting in an XXY pattern. (Other, less frequent, chromosomal
patterns include XXXY, XXXXY, XXYY, and XXXYY.) Symptoms of
Klinefelterš syndrome may include sterility, a tall physique, and lack of secondary
sex characteristics, breast development, and learning disabilities.
Aneuploids are of following types:
(i) Monosomies:
They arise by the loss of one chromosome from the diploid set i.e., 2n-l. They can
form two types of gametes, (n) and (n-1).
(ii) Nullisomics:
These arise by the loss of a particular pair of chromosomes i.e., 2n-2. They arise by
the fusion of two (n-1) type of gametes.
(iii) Trisomies:
These arise by addition of an extra chromosome to the normal diploid set with the
genetic formula, 2n + 1. Such individuals are formed by the union of a (n + 1)
gamete with a normal gamete (n).
(iv) Tetrasomics:
These arise by the addition of an extra pair of chromosome to the diploid set with a
chromosomal formula 2n + 2. By this a particular chromosome is represented in
four doses instead of normal two.
Changes in the structure of chromosomes
Any change resulting in the duplication, deletion, or rearrangement of
chromosomal material. Abnormal structure or number of chromosomes includes
deficiency, duplication, inversion, translocation, aneuploidy, polyploidy, or any
other change from the normal pattern. When the chromosome's structure is altered,
this can take several forms. 16. Deletions: A portion of the chromosome is missing
or deleted. Known disorders in humans include Wolf-Hirschhorn syndrome, which
is caused by partial deletion of the short arm of chromosome 4; and Jacobsen
syndrome, also called the terminal 11q deletion disorder.
Duplications:
A portion of the chromosome is duplicated, resulting in extra genetic material.
Known human disorders include Charcot-Marie-Tooth disease type 1A, which may
be caused by duplication of the gene encoding peripheral myelin protein 22
(PMP22) on chromosome 17.

Translocations:
A portion of one chromosome is transferred to another chromosome. A
translocation occurs when a piece of one chromosome breaks off and attaches to
another chromosome. This type of rearrangement is described
as balanced if no genetic material is gained or lost in the cell. If there is a gain or
loss of genetic material, the translocation is described as unbalanced.

There are two main types of translocations:

1. Reciprocal translocation: Segments from two different chromosomes have been
exchanged.
2. Robertsonian translocation: An entire chromosome has attached to another at the
centromere - in humans these only occur with chromosomes 13, 14, 15, 21, and 22.
Inversions:
A portion of the chromosome has broken off, turned upside down, and reattached,
therefore the genetic material is inverted.

Insertions:
A portion of one chromosome has been deleted from its normal place and inserted
into another chromosome.

Rings:
A portion of a chromosome has broken off and formed a circle or ring. This can
happen with or without loss of genetic material. The ring may or may not include
the chromosome's constriction point (centromere). In many cases, genetic material
near the ends of the chromosome is lost. Many cancer cells also have changes in
their chromosome structure. These changes are not inherited; they occur in somatic
cells (cells other than eggs or sperm) during the formation or progression of a
cancerous tumor.
Q.no 4: Discuss in detail the phenomenon of protein synthesis (central dogma
in molecular biology)?

Introduction

The genetic message carried on the DNA molecule is a code. This code is
ultimately translated into a sequence of amino acids that, when complete, becomes
a protein. Proteins carry out the “business” of the cell. Some proteins are used as
structural components of cells, some are used to transport other molecules, still
others are charged with directing chemical reactions. The latter class of proteins is
the enzymes. Regardless of the role played by a protein in the cell one aspect is the
same, they are all encoded in the base sequences of DNA. The path from DNA
sequence to protein sequence is an elegant but complex process that is composed
of two major steps. The first is transcription, in which DNA is converted into a
mature messenger RNA (mRNA), and the second is translation, in which the base
sequence of the mRNA is “read” and converted into an amino acid sequence.

Proteins: their importance

• Membrane proteins

• Structural proteins

• Enzymes

• Hormones
• Antigens

DNA

• DNA has two functions.

– Self-renewing data repository that maintains a constant source of genetic

information for the cell.

– serve as a template for the translation of genetic information into proteins, which
are the functional units of the cell.

Basic building blocks of DNA

• Phosphoric acid • Sugar • Nitrogenous base

Genetic Code

• The gene consists of a segment of DNA that is transcribed into RNA.

• The genetic code consists of successive "triplets" of bases on the DNA.

• Each three successive bases is a code word.

• The successive triplets eventually control the sequence of amino acids in a

protein molecule that is to be synthesized in the cell.

• Central dogma of molecular biology:

Genetic information flows unidirectionally from DNA to proteins.

Steps of Protein Synthesis

• Transcription

• Translation

• Post translational modification

Transcription

• Definition: Transcription is the synthesis of RNA from a DNA template,

mediated by an enzyme called RNA polymerase.

• Site: Nucleus

Transcription contd:

• Requirements:

– DNA template

– RNA polymerase

– Activated ribonucleotides

Building blocks of RNA

• Phosphoric acid

• Sugar

• Nitrogenous base

• The basic building blocks of RNA form RNA nucleotides.

• RNA nucleotides are then activated by RNA Polymerase.

• RNA polymerase recognises the promoter region in DNA and binds to it.

• Unwinding of a segment of DNA

• Attachment of activated ribonucleotides to the DNA segment

• Polymerase moves along the DNA strand

• Breakage of 2 phosphate radicals from RNA nucleotides

• Covalent linkage of 3rd phosphate with ribose

• RNA polymerase reaches end of DNA gene (chain terminating sequence)

• Breaking away of polymerase & RNA chain

• Formation of RNA transcript

• The code that is present in the DNA strand is eventually transmitted in

complementary form to the RNA chain.

• The ribose nucleotide bases always combine with the deoxyribose bases in a
fixed combination.

• The RNA that is initially transcribed from a gene is called the primary transcript.

• Most eukaryotic genes contain exons, DNA sequences that are present in the
mature mRNA, alternating with introns, which are not present in the mRNA.

Processing of The Primary Transcript

• Splicing • Addition of 5’ methyl cap

• Cleavage of RNA transcript downstream from polyadenylation signal

• Addition of poly A tail

Types of RNA

• mRNA
• tRNA

• rRNA

• mRNA

mRNA

• mRNA molecules are long, single RNA strands that are suspended in the
cytoplasm.

• They contain codons that are exactly complementary to the code triplets of the
DNA genes.

tRNA

• Carrier for specific amino acids from cytoplasm to mRNA

• Has sites for binding amino acid & mRNA

rRNA

• Functions in association with tRNA& mRNA

• Present in ribosomes

miRNA

• Non-coding RNA

• Regulate gene expression

Translation

• Definition: Translation is the synthesis of protein from RNA.

• Site: Ribosomes

Translation contd.

• Requirements:

– Amino acids
– mRNA

– tRNA

– ATP

• Begins at AUG

• Ends at UAG, UAA, UGA

• Amino acid + ATP

• Activated amino acid + AMP

• tRNA

• Amino acid tRNA complex

• Binds to mRNA

• Peptide bonds formed between successive amino acids

• Process stops at chain termination codon

• Release of polypeptide

It is common to have more than one ribosome on a given mRNA chain at a time.

• The mRNA chain plus its collection of ribosomes is visible under the electron
microscope as an aggregation of ribosomes called a polyribosome.
Post-translational Modification

• Folding

• Hydroxylation

• Carboxylation

• Glycosylation

• Phosphorylation

• Cleavage of peptide bonds

Regulation of Gene Expression

• Step 1: Chromatin remodeling

• Step 2: Initiation of transcription

• Step 3: Transcript elongation

• Step 4: Termination of transcription

• Step 5: RNA processing

• Step 6: Nucleocytoplasmic transport

• Step 7: Translation

• Step 8: mRNA degradation

Formation of protein
After a polypeptide chain is synthesized, it may undergo additional processes. For
example, it may assume a folded shape due to interactions between its amino acids.
It may also bind with other polypeptides or with different types of molecules, such
as lipids or carbohydrates. Many proteins travel to the Golgi apparatus within the
cytoplasm to be modified for the specific job they will do.
Protein Structure
One final word about transcription and translation. The end product of DNA
transcription and translation is an amino acid sequence, a poly-peptide. This is not,
strictly speaking, a PROTEIN. Proteins are most often complex structures
containing more than one poly-peptide chain or subunit. Even among those
proteins that are composed of a single peptide chain, there is internal structure that
is dictated by the specific order of the amino acids. Peptides all fold into some type
of secondary and tertiary structures and it is these structures that confer function.
There are binding sites, co-factors sites, and other structural regions within a
protein that must be precisely configured for the protein to do its job. Much of this
is carried within the genetic message but much of it is not.

Q.no 5: what is genetic evolution? Write down the important theories.

What is evolution?
In biology, evolution is the change in the characteristics of a species over several
generations and relies on the process of natural selection.
 The theory of evolution is based on the idea that all species are related and
gradually change over time.
 Evolution relies on there being genetic variation in a population which affects
the physical characteristics (phenotype) of an organism.
 Some of these characteristics may give the individual an advantage over other
individuals which they can then pass on to their offspring.
• Aristotle
understood all natural things, not only living things, as being imperfect
actualizations of different fixed natural possibilities, known as “forms,” “ideas,” or
“species.” 350 BCE
• Buffon
suggested that species could degenerate into different organisms.
AD 1749
• Erasmus Darwin
proposed that all warm-blooded animals could have descended from a single
micro-organism (or “filament”).
AD 1796
• Cuvier
insisted that species were unrelated and fixed, their similarities reflecting divine
design for functional needs.
AD 1798
• Lamarck’s “transmutation” theory
Jean Baptiste Lamarck (1744–1829) was a distinguished French zoologist. His
contributions to zoology include important studies of animal classification.
Lamarck, however, is remembered more for a theory of how change occurs.
Lamarck’s rather elaborate explanation for evolutionary change involved a theory
that was widely accepted in the early 1800s called the theory of inheritance of
acquired characteristics. Lamarck believed that organisms develop new organs or
modify existing organs as environmental problems present themselves. Straining to
reach higher branches during browsing resulted in their acquiring higher shoulders
and longer necks. Lamarck published his theory in 1802 and defended it in the face
of social and scientific criticism. Society in general was unaccepting of the ideas of
evolutionary change, and evidence for evolution had not been developed
thoroughly enough to convince most scientists.
• William Paley took Ray’s
ideas that each species can be defined by the features that perpetuate and
developed them in a book Natural Theology or Evidences of the Existence and
Attributes of the Deity (1802), which proposed complex adaptations as evidence of
divine design, and was admired by Charles Darwin.
AD 1802

•Darwin’s Early Years and His Journey

Charles Robert Darwin (1809–1882) was born on February 12, 1809. His father,
like his grandfather, was a physician. During Dar- win’s youth in Shrewsbury,
England, his interests centered around dogs, collecting, and hunting birds—all
popular pastimes in wealthy families of nineteenth-century England. These
activities captivated him far more than the traditional education he received at
boarding school. At the age of 16 (1825), he entered medical school in Edinburgh,
Scotland. For two years, he enjoyed the company of the school’s well-established
scientists. Darwin, however, was not interested in a career in medicine because he
could not bear the sight of pain. This prompted his father to suggest that he train
for the clergy in the Church of England. With this in mind, Charles enrolled at
Christ’s College in Cambridge and graduated with honors in 1831. During his stay
at Cambridge, Darwin developed a keen interest in collecting beetles and made
valuable contributions to beetle taxonomy.
• Theory—Natural Selection/Descent with Modification
• HMS Beagle—Trip to explore the South American coastline – Observed species
in temperate regions more closely resemble tropics not other temperate regions
• Galapagos Islands – Adaptation
Mechanisms of Evolution
• Descent with Modification—gradual changes from an ancestral type – Galapagos
finches
• Survival of the Fittest—Malthus—over time environmental challenges eliminate
more poorly equipped genotypes
• Natural Selection—environmental factors cause different reproductive success of
individuals with different genotypes – Artificial selection—traits that are chosen
‘on purpose’ (dog breeds, genetically modified crops, etc.)
The Theory Of Evolution By Natural Selection
On his return to England in 1836 and for the next 17 years, Darwin worked
diligently on the notes and specimens he had collected and made new observations.
He was particularly interested in the obvious success of breeders in developing
desired variations in plant and animal stocks. He wondered if this artificial
selection of traits could have a parallel in the natural world. Initially, Darwin was
unable to find a natural process similar to artificial selection. However, in 1838, he
read an essay by Thomas Malthus (1766–1834) entitled Essay on the Principle of
Population. Malthus believed that the human population has the potential to
increase geometrically. Darwin realized that a similar struggle to survive occurs in
nature. This struggle, when viewed over generations, could be a means of natural
selection. Traits that were detrimental for an animal would be eliminated by the
failure of the animal containing them to reproduce.
Natural Selection 1.
All organisms have a far greater reproductive potential than is ever realized.
2. Inherited variations arise by random mutation. Seldom are any two individuals
exactly alike. Some of these genetic variations may confer an advantage to the
individual possessing them.
3. Because resources are limited, existence is a constant struggle. Many more
offspring are produced than resources can support 4.
Adaptive traits are perpetuated in subsequent generations. Because organisms with
maladaptive traits are less likely to reproduce, the maladaptive traits become less
frequent in a population and eventually are eliminated.
Modern Evolutionary Theory
• Genetic mutations cause inherited variation, natural selection uses new genotypes
for natural selection
1859
•Darwin publishes On the Origin of Species.
1865
•Mendel reported that traits were inherited in a predictable manner
1915
•Sturtevant constructs crosses of three segregating genes, called “three-factor
crosses.”
1920s–1930s
•Modern evolutionary synthesis connected natural selection, mutation theory, and
Mendelian inheritance into a unified theory that applied generally to any branch of
biology 1953
•The publication of the structure of DNA by James Watson and Francis Crick
demonstrated a physical basis for inheritance.
1973
•Peter and Rosemary Grants have spent six months of the year each year since
1973 capturing, tagging, and taking blood samples of the finches on the Galápagos
Island named Daphne Major. 1977
•Woese defines the Archaea (a new domain of life), bringing the total of domains
to three. 1990s
•Genome sequencing begins. The first theoretical description of a pure pairwise
end sequencing strategy, assuming fragments of constant length, was in 1991. In
1995, the genome of a bacterium was sequenced. Present
•Research continues to reveal new information and redefine our understanding.
Genetic Mechanisms for Evolution
• Natural selection acts on individuals, but only populations evolve
• Genetic variations in populations contribute to evolution
• Microevolution is a change in allele frequencies in a population over generations
• Mutation produce variation in gene pools that contributes to differences among
individuals • Variation genotype
= variation in phenotype • Not all
phenotypic variation is passed on
• Natural selection can only act on variation with a genetic component
Hardy-Weinberg
• Occurs when genes are shuffled during sexual reproduction
• Hardy-Weinberg principle
—frequencies of alleles and genotypes in a population remain constant from
generation to generation
– The Hardy-Weinberg theorem describes a hypothetical population
– In real populations, allele and genotype frequencies do change over time

Assumptions of Hardy-Weinberg
• Five conditions for non-evolving populations are rarely met in nature:
– No mutations
– Random mating
– No natural selection
– Extremely large population size
– No gene flow
• p and q represent relative frequencies of the only two possible alleles in a
population at a particular locus – p2 + 2pq + q2 = 1 – p2 and q2 represent the
frequencies of the homozygous genotypes and 2pq represents the frequency of the
heterozygous genotype
H-W Example
• The occurrence of PKU is 1 per 10,000 births – q2 = 0.0001 – q = 0.01 • The
frequency of normal alleles is – p = 1 – q = 1 – 0.01 = 0.99
• The frequency of carriers is – 2pq = 2 x 0.99 x 0.01 = 0.0198 – or approximately

2% of the U.S. population

Types of Natural Selection
• Directional selection favors individuals at one end of the phenotypic range
• Disruptive selection favors individuals at both extremes of the phenotypic range
• Stabilizing selection favors intermediate variants and acts against extreme
phenotypes
Preservation of Genetic Variation
• Diploidy—We have a pair of alleles and lots of variation is hidden in recessive
alleles •
Balanced Polymorphism—When natural selection maintains 2 or more forms –
Heterozygote Advantage – Frequency Dependent Selection phenotypes
Genetic Drift
• Process where chance events cause unpredictable fluctuations in allele
frequencies.
• Most pronounced in small populations
Genetic drift is a mechanism of evolution in which allele frequencies of a
population change over generations due to chance (sampling error).
Genetic drift occurs in all populations of non-infinite size, but its effects are
strongest in small populations.
Genetic drift may result in the loss of some alleles (including beneficial ones) and
the fixation, or rise to 100\%100%100, percent frequency, of other alleles.

Founder Effect
The founder effect is another extreme example of drift, one that occurs when a
small group of individuals breaks off from a larger population to establish a
colony. The new colony is isolated from the original population, and the founding
individuals may not represent the full genetic diversity of the original population.
• Effect of genetic drift—occurs when a few individuals get isolated from a
population and form a new population.

Bottleneck Effect
The bottleneck effect is an extreme example of genetic drift that happens when the
size of a population is severely reduced. Events like natural disasters (earthquakes,
floods, fires) can decimate a population, killing most individuals and leaving
behind a small, random assortment of
survivors. •
Effect of genetic drift—occurs when size of population is reduced and surviving
population is no longer representative of original population
Genetic Drift (summary)
• Genetic drift is significant in small populations
• Genetic drift causes allele frequencies to change at random
• Genetic drift can lead to a loss of genetic variation within populations
• Genetic drift can cause harmful alleles to become fixed
Gene Flow
• Gene flow is the movement of alleles among populations
• Alleles can be transferred through the movement of fertile individuals or gametes
(for example, pollen) •
Gene flow tends to reduce differences between populations over time
• Gene flow is more likely than mutation to alter allele frequencies directly