MODULE II

EXTRANUCLEAR INHERITANCE OR MATERNAL INHERITANCE OR CYTOPLASMIC

INHERITANCE:
It is the transmission of genes that occur outside the nucleus.
Inheritance of character controlled by cytoplasm.
It is found in most eukaryotes and is commonly known to occur in cytoplasmic
organelles such as mitochondria and chloroplasts.
Genes that are present in cytoplasm in cytoplasm are called cytogenes,
plasmogenes or extranuclear genes.
In this type of inheritance, the phenotype of offspring is determined by the
genotype of mother because bulk of cytoplasm is contributed by the egg cell.
1. CHLOROPLAST INHERITANCE:
1. Vareigation in Four o’ clock plant (Mirabilis jalapa):
In variegated plant of Mirabilis jalapa 3 types of branches are observed:
i. All green leaves
ii. Green and white (Vareigated) leaves
iii. All white leaves
By using flowers on these three types of branches, crosses between the three
types of parents can be made:
i. If the female reproductive part is present on the green branch, then
irrespective of where the pollen is coming from (be it green, variegated or
white branch), the next generation will have all green leaves.
ii. If the female reproductive part is present on the white branch, then
irrespective of where the pollen is coming from (be it green, variegated or
white branch), the next generation will have all white leaves.
iii. If the female reproductive part is present on the variegated branch,
and it receives the pollen from any branch (be it green, variegated or
white branch), then all phenotypes that is green, white and variegated
leaves is possible in next generation.
In other words, the phenotype of progeny always resembled the female parent
and male made no contribution at all to the character.
The genes concerned with coloration of leaves are in the chloroplast that are
transmitted through cytoplasm of egg cell and not inherited through pollen i.e they
are transmitted through maternal inheritance.
The leaf variegation is due to two kinds of chloroplast: normal green ones and
defected ones lacking chlorophyll pigment.

WH
ITE
GRE
EN
 2. CHLAMYDOMONAS
In sexual reproduction of Chlamydomonas, some cells start behaving as female
and some cells as male.
+¿¿ −¿¿
The two cells are called Mating type plus ( M ) and Mating type minus ( M ).
A gene was introduced into a strain of Chlamydomonas reinhardtii which
provided antibiotic resistance against streptomycin.

2. MITOCHONDRIAL INHERITANCE:
1. Neurospora crasa (Mold)
2. Saccharomyces cerevisiae
3. Shell coiling in snail (Limina peregra)
The Limina peregra also known as water snail has two types of spiral shells: right
or dextral which is controlled by the dominant D allele) and the second is sinistral
which is controlled by the double recessive d allele).
The phenotype of offspring is determined by both genotype of mother and the
cytoplasm.
MODULE III
STRUCTURE OF DNA:
DNA is a nucleic acid.
Nucleic acids are polymers of nucleotides. A nucleotide consists of a nitrogenous
base (purine or pyrimidine), a pentose sugar, and one or more phosphate groups.
Nitrogenous bases:
The nitrogenous bases found in nucleotides are aromatic heterocyclic
compounds.
The bases are of two types—purines and pyrimidines
Purines- Nine-membered, double-ringed structures. There are two purines:
Adenine (A) and Guanine (G)
Pyrimidines- Six-membered, single-ringed structures. There are three different
pyrimidines: Thymine (T), Uracil (U), Cytosine (C). 
Pentose Sugar:
In DNA, the pentose sugar is deoxyribose.
The double helical structure of DNA was given by Francis and Crick. The salient
features of double helical model of DNA are:
1. The DNA consists of two polynucleotide chains. The double chain of DNA
is helically twisted in a right-handed fashion.
2. The two chains of DNA are antiparallel; i.e. the two strands are oriented
in opposite directions with one strand oriented in 5'-3' direction and the
other oriented in 3'-5' direction.
3. The sugar–phosphate backbones are on the outsides of the double helix,
with the bases oriented toward the central axis .
4. The bases in each of the two polynucleotide chains are bonded together
by hydrogen bonds. Adenine forms 2 H-bonds with Thymine and Guanine
forms 3 H-bonds with Cytosine. The specific A–T and G–C pairs are called
complementary base pairs.
5. Each turn of double helix or the pitch of the helix is 3.4 nm and the
distance between two consecutive base pairs is 0.34 nm. Therefore,
there are 10 base pairs (bp) per turn.
6. Because of the way the bases bond with each other, the two sugar–
phosphate backbones of the double helix are not equally spaced from
one another along the helical axis. This unequal spacing results in
grooves of unequal size between the backbones; one groove is called the
major (wider) groove, the other the minor (narrower) groove. The space
of major groove and minor groove is 2.2 nm and 1.2 nm.
MUTATION:
Mutations are sudden inheritable changes in the DNA, either due to mistakes during DNA
replication or due to environmental factors like radiations or other mutagens.
Gene Mutation: Gene mutations are alteration of DNA due to changes in nucleotide
sequence caused by deletions, insertion or rearrangements.
Gene Mutation
 
Spontaneous mutation: Induced mutation:
These are naturally Could be physically or
occurring chemically induced
They occur at a very slow
rate of 10−6
 Gene Mutation
 
Point mutation: Frame-shift mutation:

1. Point mutation:
Gene mutation that occurs due to change in single base pair of DNA is known
as gene mutation.
There are two types of point mutations-
i. Transition Mutation- When a purine base (A or G) is substituted by
another purine base or a pyrimidine base is substituted by another
pyrimidine base (T or C) it is known as transition mutation.
ii. Transversion Mutation: When a purine base (A or G) is substituted by
another pyrimidine base (T or C) or vice versa, it is known as
transversion mutation.
There are 4 types of transition mutation and 8 types of transversion
mutations.

A classical example of point mutation is sickle cell anaemia (caused by a

mutation in the hemoglobin-Beta gene found on chromosome 11.)

Individual with sickle cell anaemia has sickle shaped RBCs instead of normal
disc shaped RBCs. This sickle shape causes these red blood cells to pile up,
causing blockages and damaging vital organs and tissue.

2. Frame-shift mutations:
A frameshift mutation is a genetic mutation caused by a deletion, insertion or
replacement of nucleotide in a DNA sequence that shifts the way the
sequence is read.
i. Addition: Addition of one or more bases in nucleotide chain

ii. Deletion: Deletion of one or more bases in nucleotide chain

iii. Replacement: Replacement of one or more bases in nucleotide

chain.
An example of Frame shift mutation is Tay-Sachs disease ( results from
mutations in the gene encoding the alpha-subunit of beta-hexosaminidase A, 78
muations in HEX-A gene have been described)

It is an autosomal recessive disorder affecting the central nervous system

 CHEMICAL MUTAGENS:

Chemical agents that induce mutations

They target the nucleotides.

The first chemical mutagen used was Mustard gas in World war II
Chemical Mutagens
 
Mutagenic to replicating Muatgenic to both
DNA: replicating and non-
Eg: replicating DNA:
Base analogues, Acridine Eg:
dye, Proflavin dye, Ethidium Alkylating agent, Nitrous
bromide, Acriflavin acid

1. TAUTOMERISM:

N-BASE COMMON TAUTOMERIC DESCCRIPTION

FORM FORM
Thymine
Keto Enol H of 3rd carbon
shifts to 4th
carbon. This
causes thymine to
base pair with N-
bases other than
adenine.
Cytosine
Amino Imino The imino form
does not base pair
with Guanine
Adenine
Amino Imino The imino form
does not base pair
with thymine.
Guanine
Keto Enol Enol form does
not base pair with
cytosine

2. ALKYLATION:
Alkylating agents are the chemicals that have got reactive alkyl group. They
can easily donate this alkyl group to DNA.
 i. Mustard gas: Cl−C H 2−C H 2−S−C H 2−C H 2−Cl
They transfer their methyl group to N-bases or the phosphate group
of DNA, which leads to wrong base pairing and sometimes cross-
linking and breakage of DNA ladder.
Guanine when alkylated mispairs with Thymine.
ii. Ethyl methane sulphate: Generally used to produce mutations in case
of plant.
Seeds are overnight kept in 0.1% EMS solution to induce mutations in
them.
iii. Methyl methane sulphate: also contains reactive alkyl group.
Problems caused due to alkylation:
i. Alkylation of phosphate group: Because of alkylation of phosphate
group triester bond is formed which hinders replication process.
ii. Hydrolysis of diester bond between sugar-phosphate-sugar that leads
to breakage to DNA backbone.
iii. Alkylation of N-bases leads to wrong base pairing. Example alkylated
guanine mispairs with thymine.
3. DEAMINATION:
Deamination is removing the amino group from the amino acid and
converting to ammonia.
Since the N-bases cytosine, adenine and guanine have amino groups on them
that can be deaminated, Deamination can cause mutation in DNA.
For example, If a cytosine were to be deaminated to form uracil (uracil is an
analog of thymine) in the template strand of DNA, then the polymerase
would put in an adenine at the corresponding position on the nascent DNA
strand instead of a guanine.
4. BASE ANALOGUE INCORPORATION:
They are chemical that have structure similar to normal bases and are
incorporated into the DNA only during replication.
Base analogues mimic the N-bases and replace them (this is reversible). They
cause mispairing and eventually give give to mutations.
They can be natural eg. 5-methyl cytosine, 6-methyl purine or artificial eg. 5-
Bromouracil (resembles thymine, mispairs) and 2-aminopurine (resembles
adenine, pairs with cytosine)
5. NITROUS OXIDE:
Exposure to nitrous oxide is mutagenic.
i. Adenine on exposure changes to hypoxanthine which base pairs with
cytosine.
ii. Cytosine on exposure to nitrous oxide changes to Uracil which base
pairs with adenine.
6. ACRIDINES AND PROFLAVINS:
 These dyes intercalate themselves between the ladder which increases the
size of ladder. Due to increase in size of ladder, during replication the DNA
breaks.

MODULE IV
CHRMOSOMAL MUTATIONS: Loss, gain, or rearrangement of a segment of DNA,
results in alteration in chromosomes. Alterations in chromosomes lead to
abnormalities or aberrations.
Chromosomal Mutations
 
Structural Mutations: Numerical Mutations:
Change in structure of Change in number of
chromosome. chromosome in a cell
STRUCTURAL MUTATIONS:

Structural mutations arise because of alterations in the structure of the

chromosomes.
Structural changes in chromosomes usually occur due to the property of the
chromosomes to form pairing and undergo contortions, as well as due to the
tendency to break and form sticky ends.
There are four types of structural mutations:
i. Deletion:
Deletion is a type of structural mutation that occurs due to the loss of a
part of a chromosome because of the breakage of the chromosome.
The deletion occurs due to the loss of a portion of a chromosome, usually
due to lag during anaphase and digestion by nucleases.
Chromosomes that have undergone deletion cannot revert to normal.
DELETION
 
Terminal deletion: Intercalary deletion:
The terminal deletion occurs due to The intercalary deletion occurs due
the loss of the terminal section of a to the loss of an intermediate section
chromosome. of the chromosome.
This involves a single break in the This involves two breaks on either
chromosome end of the deleted section.
 Deletion of chromosomal segment results in loss of information as
deleted segment does not take part in cell division.
Chromosomal deletions are easily tolerable in case plants as they are
polyploid.
In case of human, there is one reported case of chromosomal deletion,
Cri-Du-Chat Syndrome. It is caused to due to deletion of small portion in
p-arm of chromosome 5. These individuals tend to be mentally slow with
an IQ below 20 and have different forms of malformation in the larynx,
moon faces, saddle noses, and small mandibles and have a cat like cry.
ii. Duplication:
Duplication is a type of structural mutation where a part of a
chromosome is present more than the normal composition.
In other words, it caused due to doubling a chromosomal segment which
arise due to unequal alignment of homologous chromosome during
synapsis.

Duplication leads to change in phenotype of an individual.

A classic example of duplication is duplication of a segment of X-
chromosome of Drosophila.
Normal eye shape is oval (>600 facets are present)
After duplication the eye shape is altered to bar-shaped i,e narrowe eyes
(around 200 facets are present)
iii. Inversion:
Inversion is a type of structural mutation where a part of chromosomes or
a set of genes rotates by 180° on its own axis.
 There is no net loss or gain of genes but simply a rearrangement of the
sequence. A part of the chromosome is broken and then rejoined in a
different direction.
There is no loss or gain of genetic information.
Due to change of position of genes on chromosome in the process, the
reading frame is altered.

INVERSION
 
Paracentric Inversion: Pericentric Inversion:
When centromere is not a part of When centromere is a part of
inverted segment. inverted segment.

Both Paracentric and pericentric inversions leads to formation of

abnormal gametes.

An example of chromosomal inversion can be observed in the insect,

Coelopa frigid, where the chromosomal inversion results in the
production of differences in phenotype.
iv. Translocation:
Translocation is a type of structural mutation resulting from the shift or
transfer of a part of a chromosome or a set of genes to a nonhomologous
chromosome.
There is no net gain or loss of chromosomes or genes during translocation
but a rearrangement.
 TRANSLOCATION
 
Reciprocal Translocation: Non-reciprocal
Exchange of chromosomal segments translocation:
at same position. Transfer of chromosomal segments to
another chromosome.

All genes are present, so an individual with a translocation can be completely normal.
However, an individual who is heterozygous for translocation and a set of normal
chromosomes can have fertility problem.

Translocation is frequently observed in plants. Translocational ring can be seen in

Rhoeo discolor.

Translocational Down’s Syndrome: 5% of Down’s syndrome cases are caused by

translocation between chromosome 21 and chromosome 14. Both these
chromosomes are acrocentric, and the short arm contains no essential genes.
Translocation joins the long arms together and short arms together. In this case short
arm is usually lost. The individual thus has normal 21 and normal 14 chromosome

NUMERICAL MUTATIONS:
 Caused by the alterations in the number of chromosomes in a cell. The change in the
number of whole chromosomes is called heteroploidy. It produces phenotypic changes,
modifications of phenotypic ratios, and alteration of linkage groups.

1. Aneuploidy:
Mutations that occur due to addition or deletion of chromosome at any chromosomal
set is called aneuploidy.
Hypoploidy usually occurs due to the loss of a single chromosome (monosomy) or due
to the loss of a pair of chromosomes (nullisomy).
Hyperploidy, in turn, might involve the addition of a single chromosome (trisomy) or
the addition of a pair of chromosomes (tetrasomy).

HYPOLOIDY

Monosomy Nullisomy Doublesomy

(2n-1) (2n-2) (2n-1-1)
Loss of a single Loss of one complete Loss of two
chromosome from a set set of chromosome. chromosomes from
of chromosome. Humans can’t tolerate two different sets of
Monosomy is easily this condition as they chromosomes.
tolerated in plants are diploid.
because they are
polyploid. This helps in
developing new
varieties of plant.
Eg- Turner’s Syndrome
 HYPERPLOIDY

Trisomy Tetrasomy Balanced Trisomy

(2n+1) (2n+2) (2n+1-1)
Addition of a single Addition of one complete Addition of
chromosome from a set of set of chromosome. chromosome at one set
chromosome. Not reported in case of and deletion of
Eg: humans. chromosome at other.
1. Down’s Syndrome (21st
Chromosome)
2. Patau Syndrome (13th
Chromosome)
3. Edward’s Chromosome
(18th Chromosome)
4. Klinefilter syndrome
(Trisomy of sex
chromosome: 45+XXY,
45+XXX, 45+XYY)
 2. Euploidy:
Any change in number of chromosomes is multiple of number of chromosomes in
basic set. Variation in ploidy of an organism.
Polyploidy- Ploidy of more than 2n.
POLYPLOIDY
 
Autopolyploidy: Allopolyploidy:
Autopolyploids are polyploids that Allopolyploids are the polyploids that
consist of the same basic set of result from the doubling of
chromosomes but multiplied to form chromosome number in a hybrid from
multiple sets. two different species.

It can be chemically induced by Eg.

colchicine or trifloroline. 1. Mule (Sterile): Female horse
Colchicine targets the spindle fibre and male donkey.
and breaks it, thus chromosomes do 2. New world cotton plant.
not segregate during anaphase.
Eg. Triticum aestivum (6n, n=7)
MODULE V
1. ONE GENE- ONE POLYPEPTIDE CONCEPT:
It was proposed by Beadle and Tatum in 1940.
This concept was given before the discovery of structure of DNA.
It is the idea that each gene encodes a single enzyme. Today, we know that this
idea is generally (but not exactly) correct.
Garrod, a British medical doctor, was the first to suggest that genes were
connected to enzymes.
Beadle and Tatum confirmed Garrod's hypothesis using genetic and biochemical
studies of the bread mold Neurospora.
Neurospora reproduce asexually through the aid of conidia.
TREATMENT: Conidia were exposed to X-rays
CONTROL: Normal, unmutated conidia
Media was prepared with consisted of sugar, salt and vitamin.
Treatment and control both were cultured.

They concluded that on exposure to X-rays, the genes responsible for vitamin
metabolism got mutated. Hence when vitamin is present in the media, not growth
is observed.
2. COMPLEMENTATION TEST (rII LOCUS):
This test was conducted by Seymour Benzer.
This is the most refined analysis of a single gene ever conducted for a locus in T4
bacteriophage infecting E. coli.
This locus is known as rII locus and a mutant at this locus is responsible for lysis of E.
coli cells.
This test was performed to understand if the locus is dot like or lengthy.
T4 bacteriophage: Wild type rII locus: Cause lysis
Mutant rII locus: No lysis
Case 1: E.coli was infected by bacteriophage having wild type rII locus -> Lysis of
E.coli
Case 2: E.coli was infected by bacteriophage having mutant type rII locus -> No Lysis
of E.coli
Case 3: E.coli was infected two bacteriophages having mutant type rII locus -> Lysis
of E.coli
From the third observation, he suggested that the mutations of rII locus is different
in both the bacteriophages in case 3.
He suggested that rII locus can be divided into 2 parts, each part is called cistron.

In case 2, either of the two protein is abnormal due to mutation in its respective
cistron.
In case 3, First Bacteriophage: Mutant A cistron -> Abnormal A protein
Normal B cistron -> Normal B protein Both A and B protein
Second Bacteriphage: Normal A cistron -> Normal A protein are present
Mutant B cistron -> Abnormal B protein
In case 3, the mutant A protein of first bacteriophage was complemented by normal
A protein of second bacteriophage. Similarly, the mutant B protein of second
bacteriophage was complemented by normal B protein of first bacteriophage.
This phenomenon where one gene (or cistron) supports the effect of another gene
(or cistron) is called complementation.

3. SPLIT GENES:
The coding regions containing actual information of the genes (exons) of most
eukaryotic genes are interrupted by few to several noncoding sequences called
introns (from intervening sequences) which are spliced out after transcription.
Such genes are called split genes since their coding sequences are split into several
parts due to the introns.
The first split gene to be described in 1977 by Pierre Chambon and his colleagues
was the ovalbumin genes of chicken coding for the 386 amino acid long ovalbumin
protein of eggs.

Every split gene starts with intron and end on intron.

Bulk of DNA is intron (Intron is not directly involved in protein synthesis, but it has
other function.
Important features of interrupted genes:
1. Each interrupted gene begins’ with an exon and ends with an exon.
2. The exons occur in the same precise order in the mRNA in which they occur in the
gene.
3. The same interrupted gene organisation is consistently present in all the tissues of
organisms.
4. Most introns are blocked in all reading frames i.e., termination codons occur
frequently in their three reading frames. Therefore, most introns do not seem to
have coding functions.
Significance of Split Genes:
The significance of split organisation of eukaryotic genes is not clear.
1. In some cases, different exons of a gene code for different active regions of the
protein molecule, e.g., in the case of antibodies. Thus, it has been suggested that
introns are relics of evolutionary processes that brought together different ancestral
genes to form new larger genes. It is also possible that some introns have been
introduced within certain exons during evolution.
2. Introns may also provide for increased recombination rates between exons of a
gene and thus may be of some significance in genetic variation.
3. Introns are known to code for enzymes involved in the processing of hn RNA
(heterogenous RNA).

4. OVERLAPPING GENES:
The determination of nucleotide sequences of some viral genomes such as
bacteriophage (ɸx174) has clearly shown that at least some genes share their
nucleotide sequences either partially or fully; such genes are called overlapping
genes.
Overlapping genes have been found in the following viruses; MS2 (single stranded
RNA), SV40 (double stranded DNA) and phage k (double stranded DNA). It has also
been discovered in tryptophan mRNA of E. coli.
In view of wide occurrence of overlapping genes, it seems that this phenomenon is
an economic device to make better use of genetic material through packing of more
genetic information in less DNA.
It is not known if overlapping genes occur in other prokaryotes and in eukaryotes, or
if they are confined to viruses.

Overlapping genes cannot undergo mutation in’ independent of each other, i.e., they
will mutate together, although degeneracy of code may permit some degree of
independence.
Therefore, a single mutation in the overlapping region of such genes would often
result in the loss of activities of two gene products, thus generating pleiotropy.

5. TRANSPOSONS:
Discovered by Barbara McClintock while working on Maize plant.
A transposon is a mobile genetic element. It can move to new locations within a
genome. Hence, it is also known as the jumping gene.
They are found in both lower and higher organisms.
 A transposon gives different phenotypes at different locations.
A transposon doesn’t have a site for the origin of replication. As a result, it cannot
replicate without the host chromosome as plasmids or phages.
It is used as a vector for insertional mutagenesis.
Transposons follow 2 methods for movement:

Cut and Paste method (Conservative Method) Copy and Paste method (Replicative method)
The cut-and-paste transposition involves two This mechanism which involves replication of
transposase subunits. transposable sequence.
Each transposase subunits binds to the specific This copy of DNA, so formed, is inserted into the
sequences at the two ends of transposon. target site while the donor site remains unchanged.
These transposases cut the transposon sequence. There is a gain of one copy of transposon and both-
the donor and the recipient DNA molecule are
This excised ‘transposon-Transposase Complex’ then
having one-one transposable sequence each, after
gets integrated to the target recipient site.
transposition.

Eg: Tn3-elements found in bacteria

Eg: P-elements in maize, hobo-elements in

Drosophila