MUTATION

A sudden and heritable change in the phenotype of an organism,which is not due to Segregation
or Recombination
Mutation due to change in the base sequence of a gene or POINT mutations
Change in chromosome number and structure that produce heritable change in phenotype is
called CHROMOSOMAL mutation
The individual showing changes due to mutation are called mutants
The agent that causes mutation are called mutagens and their capacity to induce mutations is
called mutagenic property

MISSENSE MUTATION
Change in nucleotide sequence(codon) will not affect amino acid sequence
NONSENSE MUTATION
Change in nucleotide sequence(codon) will affect amino acid sequence and polypeptide chain
due to change in codon

Mutation
The term mutation was introduced by Hugo De Vries in 1990 when he observed sudden
heritable change in Oenothera
Seth wright (1791) discovered short Legged male lamb and this dominant mutant acted as source
for the development of Ancon breed of sheep
1910-Morgan began systematic study by analyzing white eye mutant in drosophila
HJ Muller studied mutagenic action of x ray in drosophila, he was awarded the Noble prize for
physiology and medicine.1927,Stadler described the mutagenic effect of X rays in Barley

CHARACTERISTICS OF MUTATION

1. generally mutant alleles are recessive than their wild type or normal alleles
2. mutations are a random event
3. most mutations have harmful effects,but some are beneficial
4. mutations are recovered
5. rate of spontaneous mutations is b/n. 10-7 and 10-4
6. the mutation can be produced through chemical and radiation treatment

Classification of mutations

Direction of mutation
A mutation from wild type to mutant alleles is called forward mutation,mutant allele to normal
allele is known as Reverse mutation(ATAVISMS)

The cause of mutation

Spontaneous mutation occur naturally without any apparent cause,while induced mutations
originate in response to a treatment with some mutagen

Dominance relationship
Mutant alleles may be sometimes dominant (dominant mutation), most often recessive (recessive
mutation) and occasionally co-dominant

Tissue of origin
A mutation occurs in somatic cell (cell doesn’t give rise to gametes) is called Somatic mutation
Germinal mutation occurs in reproductive tissues (cells that give rise to gametes)

Effect on Survival
Lethal
Sub lethal
Vital mutation

Cytological basis
Chromosomal gene or cytoplasmic mutations.

Frameshift mutation- mutation resulting from insertion or deletion of one or more bases this
change codon sequence and amino acid sequence

CAUSES OF MUTATION

Spontaneous mutation
These occur naturally without any apparent or known cause.
There are two possible sources of origin of spontaneous mutations
1. errors during DNA replication
2. mutatgens effects of natural environment of organisms
the DNA polymerase incorporating wrong base durin DNA replication with a frequency of 10-5
,but generally they are corrected by DNA polymerase during Proof reading
the rate of spontaneous mutations is very low,b/n 10-8 And 10-10 per nucleotide per generation for
bacteria and virus
For Eukaryotes ranging from 10-4 to 10-6 per nucleotide/generation

INDUCED MUTATIONS
Mutations produced due to treatment of chemical or physical agent are called induced
mutations.the process of inducing mutations through treatment with a mutagen is known as
mutagenesis,while exploitation of induced mutations for crop improvement is called mutation
breeding

MUTAGENS
Agents that are capable of causing mutation
These are of two kinds
Physical mutagens(diff types of radiation)
Chemical mutagens(a variety of chemical compounds)

Physical mutagens
The diff types of radiation having mutagenic property are known as physical mutagens.these
radiations may be part of the electromagnetic spectrum , having shorter wavelength and higher
energy than visible light (UV X Gamma and Cosmic) or may be particulate matter radiations
produced by decay of radioisotopes like 146C 35 S
Radiations are grouped into two classes depending on the type of effect they have on the atoms
in their path
Ionizing and Non ionizing

IONIZING RADIATION
These radiation cause ionization in the atoms present in their path
Particulate radiations consisting of High energy atomic particles generated by radio active decay
β Particles are high energy electrons produced by radioactive decay of 32P,35 S and are very
negatively charged
α rays are composed of particles having 2 protons,2 neutrons and they have double positive
charge
the non particulate ionizing radiations are represented by X rays and γ rays which are high
energy radiations composed of photons X rays are produced by X ray tube, while γ rays are
produced by 14C, 60CO isotopes
the chemical and biological effects of radiations are produced primarily due to ionization.the
genetic effects of radiations result from their effect on DNA.these effects include change in
base,loss of base,single and double strand breaks in DNA.the genetic effects of radiations maybe
direct or Indirect.
The direct effects of radiations is produced due to ionization directly in DNA molecule,while
their indirect effect is produced through ionizations in molecules rather than DNA and is
believed to be mediated by free radicals formation
Free radicals are electrically neutral molecules and they have a very short life span (10-16sec)

NON IONIZING RADIATION

UV rays (present in solar rays or produced by mercury vapour lamp) are the only non ionizing
radiation having mutagenic properties.they are specifically absorbed by purines and pyramidines
present in DNA.the maximum absorption of UV rays by DNA occurs at the wavelength of
254nm
UV is relatively low energy radiation and has very poor penetrating power
The mutagenic and UV is the consequence of both its direct and indirect effects of DNA
The direct effects of UV in DNA is by formation of Pyrimidine dimer and Pyrimidine hydrates
Due to excitation action of UV rays in Thymine for thymine dimer by joining nearby thymines in
the DNA strand
The major effects of UV radiations are
 pyrimidine dimer distort the DNA double helix and interfere with accurate DNA
replication
 errors may occur during excision-repair of pyrimidine dimer

CHEMICAL MUTAGENS

The chemical substances which induce mutation is called Chemical mutagens.these can be
classified into-
Base analogues
Alkylating agents
Acridine dyes
Deamination agents

Base analogues
These are very similar to the bases normally found in DNA and as a result are normally
incorporated in DNA during replication. Eg. 5-bromouracil(5-BU) 2-AminoPurine(2-AP)

Alkylating agents
Several chemicals have reactive alkyl groups (methyl,ethyl) which they transfer to DNA bases
and to phosphate groups of DNA,they are called alkylating agents and this process is known as
ALKYLATION
Alkylating agents cause genetic effects like transitions,frame shift mutations
TRANSITION Substitution of DNA molecule of a purine by another purine or
Pyrimidine by another Pyrimidine leads to gene mutation
AT→GC
GC→AT

TRANSVERSION substitution of a purine by a pyrimidine and vice-versa

GC→TA
GC→CG
Eg. Dimethyl sulphate(DMS) ethyl methane sulphonate(EMS) Ethyl ethane
sulphonate(EES)

DEAMINATION AGENTS
The deaminating agent Nitrous acid is a potent mutagen which acts as both replicating and non
replicating DNA .this also results in Transition effect.

Acridine dyes
The acridines are positively charged,they insert themselves between two base pairs of DNA.this
is Intercalation

CHROMOSOMAL ABERRATION

A change in chromosome number from diploid state, or a change in chromosome structure from
the normal chromosomal compliment.
The chromosomal aberration may be grouped into two classes –
Structural chromosomal aberration
Numerical chromosomal aberration

Structural chromosomal aberration

This type of aberration can alter the chromosome structure,which changes the sequence of genes
present in the chromosome. The 4 types of Structural chromosomal aberration are
Deletion/deficiency
Duplication/repeat
Inversion
Translocation

Cause of Structural chromosomal aberration

Sponataneously the chromosome segments can break and realign in different combinations.the
factors such as cosmic rays,nutrirional deficiencies and temp may cause this aberration
the chromosomal aberration are induced by radiation like X rays, γ rays and β rays , chemical
agents.

DELETION
Loss of chromosome segment is called deletion/deficiency.the telomeric region deleted from
chromosome is called terminal deletion.If the missing segment doesn’t contain telomeric region
its called Interstitial deletion

Eg. Deficiency in human being.chromosome 5 deletion produces cri-du chat syndrome.the

individuals suffering from this syndrome produce a characteristic merving cat like cry during
childhood
Intercalation increases the rigidity if DNA double helix as well as disturbs its
configuration.Replication of intercalated DNA molecules often results in addition or deletion of
1 to few base pairs,which produces Frameshift mutations
Eg. Acriflavine,proflavin

DETECTION OF MUTATION
Mutation at gene level is detected by the alternation of phenotypic expression of one or more
traits
1) PLATING OF BACTERIAL CELLS

(MUTATION)
BACTERIA →→→→→→Mutated bacteria(resistant to antibiotic)
↓↓ ↓↓
Grown in Grown in selective media
non-selective media containing antibiotic

freq of mutant cells (%) = no. of colonies on selective medium X 100

no. of colonies on non selective medium

2) CLB TECHNIQUE IN DROSOPHILA

The clb method of detection of sex linked recessive lethal in drosophila.this tech was
developed by MULLER

3) ATTACHED X CHROMOSOME TECHNIQUE

the attached XX method for detection of visible mutation in the X chromosome of
drosophila

APPLICATION OF MUTATIONS
the beneficial mutations are useful in Crop improvement,the improvement in both qualitative and
quantitative traits
 Used in genetic studies
Used in fine structure analysis and relationship between genes and proteins
Studying biosynthetic pathway

The deletion can be detected during pachytene stage of meiosis,the unpaired segment of the
normal chromosome of an intercalary deletion Produce a loop

2) DUPLICATION
Presence of an additional chromosome segment as compared to that normally present in a
nucleus is known as Duplication (OR) In diploid organisms,presence of chromosome segment in
more than two copies is called Duplication

Genetically it does not produce as drastic consequences as deletion in terms of the phenotype and
survival.but Duplications may have distinct phenotypic effect in case of mutant allele.
Eg. Bar duplication in Drosophila

3) INVERSION
When a segment of chromosome oriented in the reverse direction,such segment is said to be
inverted and the phenomenon is termed as inversion
The inverted segment is rotated by chromosome 180’ as compared to its normal orientation.the
chromosome breaks at two points at interstitial segment and rotated at 180’ and oriented

Paracentric inversion : the inverted segment doesn’t contain centromere

Pericentric inversion : the inverted segment contains centromere,this may change centromere
location
The inversions are studied in detail in Drosophila species

TRANSLOCATION
Integration of chromosome segment into a non-homologous chromosome is known as
Translocation

Simple Translocation : terminal segment of a chromosome is integrated at one end of a non

homologous chromosome

SHIFT : intercalary (internal) segment of chromosome is integrated in the intercalary position of

non homologous chromosome

Reciprocal Translocation: this is produced when two non homologous chromosomes exchange
segments.this results in changes in chromosome morphology and genetic content
CHROMOSOMAL ABERRATION

Any change in chromosome number from the diploid (or) change in chromosomal structure from
normal chromosome complement

NUMERiCAL CHROMOSOME ABERRATION

Somatic cell(diploid =2n)

Gamete containing single genome (n=x) is called haploid.any deviation from the diploid(2n=2x)
is called a numerical chromosme aberration and also referred to as Heteroploidy,these are
grouped into
Aneuploidy
Euploidy

Aneuploidy
A loss or gain of one or few chromosomes as compared to the somatic chromosome number of a
species is known as aneuploidy

TERM (aneuploid) TYPE OF CHANGE SYMBOL

Nullisomic One chromosome part missing 2n-2
Monosomic One chromosome missing 2n-1
Double monosomic Two non homologous 2n-1-1
chromosomes(one from each
pair) missing
trisomic One extra chromosome(3 copies 2n+1
of one chromosome)
Double trisomic Two homologous chromosomes 2n+1+1
extra (each from diff pair )
Tetrasomic One chromosome pair extra 2n+2

Production of aneuploids
1. meiotic irregularities like non-disjunction
2. triploid plants produce aneuploids in high frequency
3. progeny from cross between tetrasomic and disomic plants show a high freq of trisomies

Aneuploids uses
 useful in genetic studies
 to determine phenotypic effect of loss or gain of different chromosome
 chromosome substitution effect can be studied
 aneuploid analysis useful in establishing linkage group

Aeuploidy in man

Human aneuploids show variable degree of abnormalities in several traits depending on the
chromosome involved in the set of abnormalities associated with a specific aneuploid is known
as a Syndrome
DOWN SYNDROME/MONGOLISM(MONGOLION IDIOCY)- L.DOWN(1866)

o Due to trisomy of chromosome 21.

o Symptoms : Short stature,short skull,large tongue with characteristic furrowing
o The average life expectancy is 16-20 yrs

PATAN’S SYNDROME- K.PATAN(1960)

Trisomy of chromosome 13 causes serious cerebral,ocular and cardiovascular defects,survive for
3 months.in a few cases upto 5 yrs

EDWARDS SYNDROME

Trisomy of chromosome 18.survival upto 6 months.

Mental deficiency,multiple congenital malformation effecting every organ system

ALLOSOME/SEX CHROMOSOME

TURNER SYNDROME- H.H. TURNER(1938)

Monosomy of X-chromosome (Xo)
Turner syndrome symptoms : affected ppl have no ovaries and poorly developed sec. sex
characters

KLEINFELTER SYNDROME- H.F.KLEINFELTER(1942)

Trisomy of sex chromosome (XXY)
Individuals are phenotypically males.they may have enlarged breasts,less body hair,small testes
& small prostrate glands

Euploidy
The organism having exact multiples of basic chromosome number (x),the number of genomes
different from two
Haploid : gametic chromosome number of the concernedspecies
Monoploid : one basic set of chromosome (genome)-x

AUTOPOLYploid
More than two copies of same genome present
a) Autotriploid three copies of same genome (3x)
eg. Water melon,banana
b) Autotetraploid Four copies of same genome (4x)
eg. Cabbage
c) Autopentaploid five copies of same genome (5x)

Production of polyploidy
o Unreduced gametes (2n) are used to produce tetraploid spontaneously
o Chromosome doubling
o Heat,cold, and irritation of chemical seeds or plants
Chromosome doubling
The most efficient method of chromosome doubling is the treatment of seeds,seedlings with
colchicine 0.2% con. Aq. Sol.
Colchicines is an alkaloid extracted from the bulbs of colchicum autumnalae
It interferes with the development of spindle fibre,as a a consequence of sister chromosomes are
unable to separate to the opposite poles during anaphase
Therefore all the chromatids (4n) are induced in one pole
The chromosome doubling effect of colchicines was first described by Blakeslee and Nebel
independently in 1937

Allopolyploidy

Allopolyploids contain 2 or more distinct genomes derived from different species

Almost all natural allopolyploids have 2 copies of each of the genome and they show regular cell
division like diploid,they are also called as amphidiploids They originated from natural
hybridization followed by chromosome doubling
Allotetraploids : 2 distinct genomes ,each having 2 copies of a basic set of chromosome (2x1 +
2x2)
Allohexaploid : they contain three distinct genomes and each has 2 copies of basic chromosome
set (2x1 + 2x2 + 2x3)
Alooctaploid : it contains 4 distinct genomes and each has 2 copies of basic set of chromosomes
(2x1 + 2x2 + 2x3 + 2x4)

allotetraploid
eg. Tobacco-nicotina tobaccum

N.sylvestris X N.tomentosa
AA(2n=24) BB(2n=24)
↓
Nicotina tobaccum
AABB(2n=48)

Allohexaploid
The polyploid developed through colchicine treatment is called Synthetic allopolyploids
Eg. Triticale

Tetraploid (wheat) X rye (secale cereale)

AABB (2n=28) RR(2n=14)
↓
ABR sterile
↓ colchicine treatment (chromosome doubling)
AA BB RR fertile
Allohexaploid (triticale hexaploid)
Cytoplasmic inheritance

The mendelian inheritance is governed by nuclear genes and has the following characteristics
o Equal contribution from male and female parents
o Segregation produces 3:1 or 9:3:3:1 or its modification in F2
o No separate cross differences
o In some cases they don’t show mendelian inheritance or they follow a non mendelian
inheritance pattern they show the following characteristics
o Reciprocal cross differences
o No segregation in F2 and subsequent generations
Cytoplasmic inheritance is the inheritance of only one character from the parents,usually female
is transmitted to progeny.it results in reciprocal crosses differences and segregation in F2.such
inheritance is also referred to as extracellular inheritance,extrachromosomal inheritance and
maternal inheritance

Maternal effect/inheritance (eg snail)

The direction of shell coiling of individual is governed by the genotype of the female parent and
not by its own genotype

Two types of coiling

Right handed DD dextral
Left handed dd sinistral

The features of inheritance of coiling pattern are

I. F1s from reciprocal crosses show differences in coiling pattern
II. No segregation in F2
III. 3:1 ratio in F3
Which clearly indicate that coiling is governed by nuclear genes and influenced by maternal
parent

Cytoplasmic inheritance
Cytoplasmic inheritance is due to plasmogenic material located in cel organelles (plastids and
mitochondria) that are an integral part of normal cells
Eg. Cp DNA (chloroplast DNA) – streptomycin resistance
Mt-DNA (mitochondria DNA)-male sterility in maize

Mirabilis jalaba (4’o’ clock plant)

Clearly indicating that phenotype of the progeny influenced by the female parent.this was due to
the unequal contribution cytoplasm by male or female gametes as the basis of cytoplasmic
inheritance