Unit 1

Download as pptx, pdf, or txt
Download as pptx, pdf, or txt
You are on page 1of 209

Unit I

 Mendelian Inheritance :
 beginning of genetics, early concepts of inheritance,
Mendel’s laws; Discussion on Mendel’s paper,
 Chromosomal theory of inheritance,
 multiple alleles,
 Gene interactions,
 Sex determination, differentiation and sex-linkage, Sex-
influenced and sex-limited traits,
 Linkage detection, estimation;
 Recombination and genetic mapping in eukaryotes, Somatic
cell genetics, extra chromosomal inheritance
GENETICS

“Branch of biology that deals with the principles of heredity and


variation.”

Term “Genetics” given by BATESON(1905)


Pre mendelian concepts of heredity

Some of the important theories or concepts about the heredity


which were proposed by various scientists prior to the discovery of
Mendel

1. Preformation Theory
2. Theory of Epigenesis
3. Theory of Acquired Characters
4. Theory of Pangenes
5. Germplasm Theory
Post mendelian concepts of heredity

The foundation of the genetics was laid by Gregor Johann Mendel in 1866,
when the he discovered the basic principles of heredity.

The Mendel’s findings came into light in 1900 when similar results were
independently observed by three scientists viz., de Vries (Holland),
Correns (Germany) and Tschermak (Austria).

After discovery of Mendel’s principles of heredity in 1900, significant


advancements have been made in the field of genetics and several new
concepts have been developed.
Some of these concepts include

1. Mutation Theory
2. Chromosomal Theory of Inheritance
3. Hardy-Weinberg law
4. Multiple factor hypothesis
5. Linkage Theory
6. One gene one enzyme hypothesis
7. Operon hypothesis
8. Wobble hypothesis
9. Lyon’s hypothesis
9. Lyons Hypothesis

Proposed by Lyon in 1969, which states that in a normal female only one
X-chromosome is active which is invisible at interphase. The other X-
chromosome remains in active, takes dark stain and become visible in
interphase nucleus. In other words, an individual may have any number
of X-chromosomes, but only one remains active and others become
inactive. The number of inactive chromosomes is represented by the
number of sex chromatin bodies.
Lecture 1: Mendel’s Laws
I. Monohybrid Cross
II. Mendel Law I
III. Dihybrid Cross
IV. Test Cross
V. Mendel Law II
BASIC TERMINOLOGIES

 Gene
 Alleles
 Gamete
 Contrasting characters
 Dominant and Recessive
 Homozygous and Heterozygous
Monohybrid , Dihybrid and Polyhybrid Cross
 Direct and Reciprocal Cross
 Backcross and Test Cross
 Phenotype and Genotype
Gene
 The gene is considered the basic unit of
inheritance. Genes are passed from parents to
offspring and contain the information needed to
specify physical and biological traits.

 Most genes code for specific proteins, or


segments of proteins, which have differing
functions within the body. Humans have
approximately 20,000 protein-coding genes.
Gamete
 A gamete is a reproductive cell of an animal or plant.

 In animals, female gametes are called ova or egg cells,


and male gametes are called sperm. Ova and sperm are
haploid cells, with each cell carrying only one copy of
each chromosome.

 During fertilization, a sperm and ovum unite to form a


new diploid organism.
G. J. Mendel

The garden of the Augustinian Monastery in Brno

1822-1884
HISTORY OF GREGOR JOHANN MENDEL

Mendel was born in 1822 in Brno (Czechoslovakia)

He joined St. Augustinian monastery in 1843.

In 1851 went to university of Vienna to study Physics and Mathematics

In 1857 he started his research in Pea.

In 1865 he published his paper “Experiments in Plant Hybridization” in


the annual proceedings of the society.

He died in the year 1884 at an age of 62 yrs.


Garden pea as experimental organism

General features of model


organisms:
Short life cycle
Large number of offspring
Easy (inexpensive) to handle
Sufficient variation
Known genetic history

Specific feature of garden pea:


can be cross-pollinated
(crossed)
can be self-pollinated
(selfed)
Seven pairs of simple differences
Law of Segregation or Law of Purity of Gametes

“Alleles segregate or separate from each other during gamete


formation and pass on to different gametes in equal number”
Mendel’s basic experiment: Monohybrid Cross
Law of Independent Assortment

“When two pairs of gene enter in F1 combination, both of them have their
independent dominant effect. These genes segregate when gametes are
formed , but the assortment occurs randomly and quite freely.”
Reasons For Mendel’s Success

1. Proper maintenance of records

2. Study of individual character

3. Choice of material

4. Maintenance of purity

5. Knowledge of shortfalls of earlier workers

6. Mathematical background

7. Proper choice of characters


Mendelian deviation
Mendelian deviations or exceptions or anomalies includes
Incomplete dominance, Codominance, Lethal genes
Multiple alleles, Linkage, Gene interaction, Pleiotropic
gene effect, Polygenes, Environmental effect,
Cytoplasmic effect etc.
These concept are often refered as“Mendelian Deviation”.
Incomplete dominance
Mendel always observed complete dominance of one allele over the other for
all the seven characters, which he studied, in garden pea. Later on cases of
incomplete dominance were reported. For example, in four ëoí clock plant
(Mirabilis jalapa) there are two types of flower viz., red and white. A cross
between red and white flowered plants produced plants with intermediate
flower colour i.e. pink colour in F1 and a modified ratio of 1 red: 2 pink: 1
White in F2.

Parents Red flower x White flower


RR x rr

F1 Rr
pink flower
F2
1 Red (Rr) :2 Pink (RR): 1 White (rr)
Incomplete dominance in flowers of Mirabilis jalapa
Codominance
In case of codominance both alleles express their phenotypes in
heterozygote greater than an intermediate one. The example is AB
blood group in human. The people who have blood type AB are
heterozygous exhibiting phenotypes for both the IA and IB alleles.
In other words, heterozygotes for codominant alleles are
phenotypically similar to both parental types. The main difference
between codominance and incomplete dominance lies in the way
in which genes act.
In case of codominance both alleles are active while in case of
incomplete dominance both alleles blend to make an intermediate
one.
Codominance - both genes fully expressed
Lethal genes
Gene, which causes the death of its carrier when in homozygous condition is called lethal
gene.

Mendel’s findings were based on equal survival of all genotypes.

In normal segregation ratio of 3:1 is modified into 2:1 ratio.

Lethal genes have been reported in both animals as well as plants.

In mice allele for yellow coat colour is dominant over grey. When a cross is made
between yellow and grey a ratio of 1:1 for yellow and gray mice was observed. This indicated
that yellow mice are always heterozygous. Because yellow homozygotes are never born
because of homozygous lethality. Such genes were not observed by Mendel. He always got
3:1 ratio in F2 for single gene characters.
Lethal genes can be recessive, as in the aforementioned mouse experiments. Lethal genes can
also be dominant, conditional, semilethal, or synthetic, depending on the gene or genes
involved.
CHROMOSOMES
 Discovered by- Eduard Adolf Strasburger German cytologist in 1875.

 The term "chromosome“ coined by W. Waldeyer in 1888.

 The Chromosomal Theory of Inheritance - Walter Sutton and Theodor Boveri


(1902-03).
 Chromosome banding pattern- Torbjorn Caspersson in 1971.
CHROMOSOME MODELS
Chromatin fibers are the basic units of the chromosome structure .

Chromosome models refers to organization of the chromatin fibers


in a chromosome

1. Folded Fiber Model was originally proposed by – DuPraw in 1965;


widely accepted.
2. Nucleosome-Solenoid Model- Kornberg and Thomas in 1974.

Nucleosome-Solenoid Model model is universally accepted as a


model of chromatin fiber organization
CHROMOSOMAL THEORY OF INHERITANCE(1902-03)

Theodore Boveri,, a German and Walter S. Sutton,, an American

“Describes how the transmission of chromosomes account for the


Mendelian patterns of inheritance.”

Showed a parallelism between behaviour of chromosome and


mendelian characters.

Suggested that mendelian factors should be located on


chromosomes.
1. Chromosomes contain the genetic material

2. Chromosomes are replicated and passed along from parent to offspring

3. The nuclei of most eukaryotic cells contain chromosomes that are found
in homologous pairs

 " During meiosis, each homologue segregates into one of the two
daughter nuclei”

4. During the formation of gametes,, different types of (non-homologous)


chromosomes segregate independently

5. Each parent contributes one set of chromosomes to its offspring

 " The sets are functionally equivalent”

 Each carries a full complement of genes


MULTIPLE ALLELES

The existence of more than two alleles at a locus is referred as


“Multiple Alleles”
Q. The two copies of chromosome are
ordinarily identical in morphology, gene
content and gene order, they are known as;
a. Homologous chromosomes
b. Non-homologous chromosomes
c. Homozygous chromosomes
d. Heterozygous chromosomes
Q. The existence of more than two alleles at a
locus is referred as;
a. Multiple Alleles
b. Pleiotropism
c. Pseudoalleles
d. Dominance
FEATURES OF MULTIPLE ALLELES

Multiple alleles belong to the same locus.

Control the same character

No crossing over in multiple allelic series

In a series of multiple alleles, wild type is dominant.

The cross between mutant alleles will always produce mutant


phenotypes.
Examples of Multiple Alleles

Fur colour in Rabbits: Agouti, Chinchilla, Himalayan & Albino

Wing type in Drosophila: Normal, Nicked, Notched, Strap, Vestigial

Self Incompatibility Alleles in Plants: Fully, Partially sterile, Fully Fertile

ABO blood group in humans: Antibody, Antigen


Q. What are the important examples of
Multiple Alleles?
a. Fur colour in Rabbits
b. Wing type in Drosophila & Self
Incompatibility Alleles in Plants
c. ABO blood group in humans
d. All of these
O- Blood Group is called universal donor- has no antigen & can donate its blood to
any person.
AB- Blood Group is universal recipient- has no antibody in their blood plasma.
Inheritance of ABO Blood Groups
 Bernstein discovered that the ABO blood grouping in
an inherited characteristic and involves multiple
allelism.

 Genotypes of four types of blood groups:-


Prepared by Dr. Nidhi Dubey
Q. How many possible genotypes are produced
in ABO blood group system;
a. 6
b. 8
c. 10
d. 12
Possible Blood Groups of the Children of
Different Blood Groups
Significance of Knowledge of Blood groups
 By knowing of blood groups of parents, blood
groups of their children can be predicted.
 Helps saving innocent people involved in
murder cases and in identifying the real
murderers.
 Helps in safe blood transfusion.
 Used to settle cases of disputed parentage in
mix up cases in hospitals.
Rhesus (Rh) Blood Group System
 Rh-Factor:- antigenic protein present on the
surface of red blood cells in human beings.
 First discovered by Landsteiner & Weiner(1940) on
plasma membrane of RBCs of rhesus monkey.
 Also found in 85% American & 93% of Indians-
called Rh-positive (Rh+).
 Person with no Rh-factor on the surface of their
RBCs- called Rh-negative (Rh-).
 Rh-factor is controlled by a pair of genes- R & r.(R
gene is dominant and control synthesis of Rh-factor, r-
gene cannot synthesize Rh-factor.)
Importance of Rh-factor
 Transfusion of Rh+ donor blood into Rh-
recipient blood causes clumping of donor’s
RBCs
 It causing blocking of capillaries and death
 No complication occur in first
transfusion but subsequent transfusion
causes this condition
 So, Rh-factor compatibility also
considered together with ABO blood
group before blood transfusion
PSEUDOALLELES

“Refers to closely linked and functionally related genes.”

Characterstics:

I. Governs different expressions of the same character.

II. Considered to occupy a complex locus which is divided into sub


loci.

III. Exhibit low frequency of genetic recombination by crossing


over.
IV. They Exhibit Cis-trans position effect.
Q. …………….. are closely linked and functionally
related genes;
a. Multiple Alleles
b. Pleiotropism
c. Pseudoalleles
d. Dominance
Sex determination, Sex-Linked,
Sex-Influenced, Sex –Limited
Traits and Its Inheritance
HISTORY
Sex chromosome was first discovered by McClung in 1902 in
grasshoper.
Sex-linkage was first discovered by Thomas H. Morgan (father of
modern genetics), (1910) in Drosophila melanogaster. Morgan
observed a few white-eyed mutant males in the population of red-
eyed individuals.
The X Chromosome was first discovered by Henking in 1891 .
The Y chromosome was discovered and so named by Stevens in
1908 in Drosophila.
The term Autosome and Allosome were given by Montgomery
(1904, 1906).
The term Homogametic and Heterogametic were given by Wilson
(1910 , 1911).
Cris-cross inheritance was given by C.B. Bridges in 1923.
SEX DETERMINATION

The process of sex differentiation, which utilises various genetical


concepts to decide whether a particular individual develop into
male or female.

Important Points related to Sex Determination are:


I. Applicability of Sex determination
II. Identification
III. Control
Difference between an Autosome and a Sex-chromosome

 Autosomes are the first 22


homologous pairs of
human chromosomes that
do not influence the sex of
an individual.

 Sex Chromosomes are the


23rd pair of chromosomes
that determine the sex of
an individual
MECHANISMS OF SEX DETERMINATION

82
83
Sex determination, 3 main mechanisms:
1. Chromosomal sex determination

Y chromosome
X chromosome

2. Environmental sex determination

e.g., Turtles use temperature

> 32°C produces females


< 28°C produces males

3. Genic balance determination


Chromosomal Sex Determination

Most higher plants and animals have a


pair of sex chromosomes or allosomes
and a certain number of paired
autosomes.
In most cases:
Males = XY
Females = XX
Mechanisms
1.XX Female, XY Male
2.2n Female, n Male
3.XX Female, XO Male
4.ZW Female, ZZ Male
5.XO Female, XX Male
Sex Determination Chart
Not every animal has the same sex chromosomes.
Type EX. Male Female Homogametic Heterogametic

XX-XY Humans & Fruit XY XX F M


Flies

2N/ N Honey Bees N NN M&F --

XO-XX Grasshopper XO XX F M

ZW-ZZ Birds,Butterflies ZZ ZW M F

XO-XX Fumea XX XO M F
During Meiosis . . .
The X and Y chromosomes behave as a homologous pair.
XY = (draw in chromosomes)

Part of the Y chromosome carries different genes.


X Chromosome Y Chromosome
SEX DETERMINATION BY GENIC BALANCE
• C.B.Bridges recognised genic balance theory in Drosophila in 1922
• According to this theory, ratio between the number of X-
chromosomes and number of complete sets of autosomes will
determine the sex.
•The X-chromosome is believed to carry female tendency genes,
while autosomes carry male tendency genes
•. Both these sets of genes start functioning and there has to be a
balance between them for an individual to become male or female.
•In one complete set of chromosomes (A + X), female tendency genes
are more. Consequently if ratio between X and A is 1.0, it will be a
female individual.
Cross of a triploid (3A + XXX) ♀ fly, and a
diploid ♂ (2A + XY) fly in Drosophila
Chromosomal sex determination (cont.)
Sex determination by Y linked genes.:

1. Y chromosome confers maleness and determines sex.


2. Verified by studies of non-disjunction aneuploidy:

XO “Turner Syndrome”
 Female abnormal
 Sterile
 1/10,000 (most XO fetuses die before birth).
 Survivors show below average height, poorly developed breasts, and immature sexual
organs

XXY “Klinefelter Syndrome”


 Male abnormal
 1/1000
 Above average height, under-developed testes, and breast development in ~50%

XYY-Male with above average height, fertility problems.


XXX-Female, normal though sometimes less fertile
Barr Body or Sex Chromatin
Relatively coiled and inactive interphase
chromatin of X chromosomes of normal
mammalian females but not the males.

First discovered by a geneticist Murray


Barr in nerve cells of cat.
Lyon’s Hypothesis
This hypothesis states that an individual may have
any number of X chromosomes, but only one
remain active and others become inactive or
condensed.
The number of inactive chromosomes is
represented by the number of sex chromatin
bodies.
This hypothesis was proposed by Lyon in 1969.
Gynandromorphs
In Drosophilla combination of male and female
features in the body of an individual ; such
individuals are known as gynandromorphs.

Gynandromorphs are detected with the help of


phenotypic characters such as banding pattern of
abdomen , presence or absence of sex combs on
the fore legs.
SEX MOSAIC

98
PATTERNS OF SEX MOSAIC IN
DROSOPHILA

99
Sex Reversal
Transformation of one sex into
another is known as sex reversal.

Examples: Partial sex reversal is


found in chickens, birds
Sex Reversal:
Transformation of one sex into another.
Sex determination in plants
In higher plants, individuals are
classified as males, females or
hermaphrodites, on the basis of
whether the flower possesses only
anthers, or only ovary or both.
Sex Linkage
 The linkage of genes which are located on X
chromosome or sex chromosome is called sex
linkage.
 Genes that are sex-linked are on the X
chromosome.
 Genes on the Y chromosome are not sex-linked;
they are called holandric instead. There are
about 20 known holandric conditions in
humans.
 Thus, most sex-linked genetic diseases are
much more common in males than in females.
Sex-Linked Genes
 Sex- Linked Genes unrelated to gender on the X
chromosome.
 Females have two X chromosomes (so they can be
heterozygous or homozygous for each of these
genes).
 Males have one copy of the sex-linked genes. Thus,
the male is referred to as hemizygous.
 X-linked genes are never passed from father to son.
 The Y chromosome is the only sex chromosome that
passes from father to son.
SEX LINKAGE

Features of Sex Linked Genes:

I. Location

II. Number

III. Expression

IV. Transmission (cris-cross inheritance)

V. Pattern of segregation

106
Halogenic : inheritance from female to female

Holandric: inheritance: Inheritance from male to male


PRIMARY NON-DISJUNCTION
Failuare of segregation of homologous chromosome

White eyed female and red eyed male(Drosophila)- Bridges 1916


Primary Non-disjunction

109
Secondary Non-junction
EXAMPLES OF SEX LINKED CHARACTERS

 Haemophilia
HUMANS
Colour Blindness

White Eye Colour DROSOPHILA


Sex-Linked Characters
I. X-linked recessive characters
Duschenne muscular dystrophy (DMD), haemophilia and color
blindness are some of the important sex-linked recessive human
traits.
These are more common in males than females, since males are
hemizygous for the X-linked genes.
ii. X-linked dominant characters
One important X-linked dominant character is incontinentia
pigmenti. The affected individuals are characterised by mosaic
pigmentation of their skin.
Mosaic phenotype is due to random loss of melanin from the
skin cells. These characters are more common in females.
Types of Sex-Linked Traits
1) complete sex-linked –

•genes are located on heterologous regions of sex


chromosome.

•In this case crossing-over is impossible.

2) incomplete sex-linked –

• genes are located on homologous (pseudoautosomal)


regions of sex chromosome.

•In this case crossing-over is possible, but often blocked


SEX-LINKED INHERITANCE
Using fruit flies as test
subjects, Thomas
Morgan studied eye
colour using simple
monohybrid crosses.
Red eyes (R) are
dominant over white
eyes (r).
SEX-LINKED INHERITANCE
When he crossed purebred
white-eyed males with red-
eyed females, he was
unable to produce a female
with white eyes.
He concluded that the gene
must be located on the X
chromosome.
SEX-LINKED INHERITANCE
Some traits are located on the sex chromosomes, so the
inheritance of these traits depends on the sex of the parent
carrying the trait.
SEX-LINKED INHERITANCE
Most known sex-linked traits
are X-linked (carried on the
X chromosome).

This is probably because the X


chromosome is much larger
than the Y chromosome.
Sex Linked Dominant Inheritance
Sex-linked dominant inheritance is
rarer because all daughters of
affected males will be affected (the
heterozygous condition is not a
carrier). Unaffected Affected male
female
Sex-linked dominant traits are never
passed from father to son.

Affected females produce 50%


normal and 50% affected offspring.

An affected male must always have


an affected mother.
X – linked Recessive Inheritance
 Refers to those situations where a recessive allele on the X
chromosome can lead to a trait/condition or disorder.

 Males are affected more often than females. Ratio of 8:1.

 Affected males will transmit the allele to all daughters, but


not to sons.

 Homozygous recessive females can arise only from matings


in which the father is affected and the mother is affected or
a carrier.
Example of Sex-Linked Inheritance
1. Colour blindness
 Retina of the eye in man contains the cells sensitive to red
and green colours. This phenotypic trait is genetically
controlled. Its alleles are located on X-chromosome.
 Red colour blindness is protan type and the green colour
blindness is deutan type.
 A man having the recessive gene for the colour blindness
can’t distinguish either red or green colour.

Cris-cross inheritance -: Inheritance of sex linked gene from


grandfather to grandson through carrier daughter.
Colour blindness is caused by a recessive allele on the X
chromosome and which is an Example of cris-cross inheritance.
Sex linkage describes the sex-specific patterns of inheritance and presentation when a gene mutation
(allele) is present on a sex chromosome (allosome) rather than a non-sex chromosome (autosome).

In humans, these are termed X-linked recessive, X-linked dominant and Y-linked.

121
122
Y-linked: Various failures in the SRY genes

123
Inheritance of Colorblindness
A heterozygous female has normal
color vision. Sons get their only X
from their mother. So, ½ of the sons
of a heterozygous mother are
colorblind, and ½ are normal.
A colorblind male will give his X to
his daughters only. If the mother is
homozygous normal, all of the
children will be normal. However,
the daughters will heterozygous
carriers of the trait, and ½ of their
sons will be colorblind.
In this example:
the mother is a
carrier of the
colorblind gene.
There is a 50%
chance her son will
be colorblind but
unless the father is
colorblind the
daughter cannot end
up colorblind.
Fig.Identification of Colorblindness
2. HEMOPHILIA
 Hemophilia is the X linked recessive genetic disorder. It is more common
in men than in women.
 Blood normally clots during injuries within 5 to 10 minutes, depending
on the magnitude of the injury.
 In hemophilia individuals the normal process of blood clotting is delayed
or sometimes blood fails to clot.
 So blood bleeds continuously leading to the loss of blood, causing even
death. It is also called bleeder’s disease.
 Females have the possibility of being heterozygous for hemophilia. This
makes them a carrier.
 Hemophilia is a blood disorder where the blood does not clot
properly.bleeding from even minor cuts .
In this example:
The father has
hemophilia. He cannot
give his son hemophilia
because he gives his son
the Y chromosome.
He can give his daughter
the recessive gene, but if
her mother does not give
her the recessive gene,
she will not have
hemophilia. She will be a
carrier.
In this example:
The mother is a carrier of
hemophilia.
She does not have
hemophilia but she is
heterozygous for the trait.
There is a 50% chance her
son will have hemophilia.
Hemophilia-Govern by recessive
alllele

130
sex-influenced traits
 A sex-influenced trait is an autosomal trait that is dominant in one sex and
recessive in the other.

 Good examples: male pattern baldness in humans , horns in sheep and


Singing voice is also sex influenced traits.

 A sex-influenced trait is a trait controlled by a pair of alleles found on the


autosomal chromosomes (pairs 1 through 22). trait is expressed in both
sex.
 Its expression is influenced by gender but it’s phenotypic expression is
influenced by the presence of certain hormones. such as: estrogen,
progesterone, testosterone, etc.
Sex- Influence Inheritance
Modes of gene expression differ between males and females.

An allele may be expressed as a dominant in one sex and a


recessive in the other.
Example: Pattern Baldness
Pattern Baldness can occur in both males and females, however it
is much more common in males.
Why is this?
Because the pattern baldness trait is influenced by the hormone
testosterone.
The combination of alleles lead to
different phenotypic expressions
depending on gender.
What is the probability that you will be bald if your father is
homozygous and balding, and your mother is homozygous and not
balding?

Father = B’B’ x Mother = BB

All offspring are BB’.

If you are male, then you will be bald. be bald.

If you are female, then you will not be bald.


Sex-influenced traits
Sex-influenced or sex-conditioned traits are phenotypes affected by whether they appear in a male or
female body.
Even in a homozygous dominant or recessive female the condition may not be expressed fully. Example:
baldness in humans

136
Sex-Limited Trait
A sex-limited trait is expressed in one sex but not the other. This is
usually due to anatomical or physiological limitations.
Sex- limited traits may be autosomal or X linked.

SEX MOSAIC -: Combination of male and female features in the body


of an individual is called sex mosaic.
Individual with sex mosaic is called Gynandromorph.
Example of Sex Limited
Traits
1-: ability to produce milk is sex-limited, because only
females have breasts, the milk producing glands.
2-: Similarly, susceptibility of prostate cancer is limited to
men, because only males have a prostate gland.
3-: Beard growth.
4-: Pregnancy phenotypes.
5-: Sperm production levels.
Sex-limited traits
These are characters only expressed in one sex. They may be caused by genes on either autosomal or sex
chromosomes.

Examples: secondary sexual characters in human

139
140
141
 Sex-influenced characteristics are encoded
by autosomal genes that are more readily
expressed in one sex.

 Sex-limited characteristics are encoded by


autosomal genes whose expression is
limited to one sex
LINKAGE

Tendency of two or more genes to remain together in the same


chromosome during inheritance is known as “Linkage”

Morgan (1910) in Drosophila & Hutchinson in Maize


 Bateson and Punnett (1905) observed in sweet pea that two pairs of
allele do not assorts independently.
 Morgan (1910) who clearly proved and defined linkage on the basis
of his breeding experiments in fruitfly Drosophila melanogaster.
 In 1911, Morgan and Castle pro­posed chromosomal theory of
linkage.
 Coupling and Repulsion phase of linkage give by Bateson and
Punnett (1905) but later on clearly explain by T.H. Morgon 1910.
 Haldane (1942) used the term cis and trans for coupling and
repulsion respectively.
What is linkage?

• The tendency of the


genes located on the
same chromosome,
to stay together in
hereditary
transmission, is
known as linkage.

• The genes located on


the same
chromosome are
called linked genes
LINKAGE GROUP

Linkage group refers to a group of genes which are present in one


chromosome.
In other words, all those genes which are located in one
chromosome constitute one linkage group.
The number of linkage groups is limited in each individual.
The maximum number of linkage groups is equal to the haploid
chromosome number of an organism.
For examples, there are :
 ten linkage groups in corn (2n = 20) LINKAGE GROUPS:
 seven in garden pea (2n = 14) 10 in maize
 seven in barley (2n =14) 7 in garden pea
 four in Drosophila melanogaster {2n = 8)
4 in drosophila
23 in man
TYPES OF LINKAGE

1. Based on crossing over

a. Complete linkage
b. Incomplete linkage

2. Based on genes involved

c. Coupling linkage
d. Repulsion Linkage

3. Based on chromosome involved

e. Autosomal linkage
f. X-chromosomal linkage
Based on crossing over
Based on genes involved
PHASES OF LINKAGE

“The linkage between two or more either dominant or


recessive alleles is known as Coupling”

“The linkage of dominant allele with that of recessive allele is


known as Repulsion”
Recombination frequency (RF)= Recombinants ​×100%
Total offspring
TEST CROSS
DETECTION OF LINKAGE

Test cross is the most common method of detecting the


linkage. In this method, the F1, heterozygous at two loci
(AB/ab) is crossed to a double recessive parent (ab/ab) and
the phenotypic ratio of test cross progeny is examined.

If the phenotypic ratio of test cross progeny shows 1:1:1:1


ratio of parental and recombinant genotypes, it indicates
absence of linkage.

If the frequency of parental types and recombinant types


deviate significantly from the normal dihybrid test cross
ratio of 1:1:1:1, it reveals presence of linkage between two
genes under study.
X2 Test
Another way....

 to detect the presence or absence of linkage is to self pollinate the individual


heterozygous at two loci.

 If there is complete dominance at each locus and no epistasis, the segregation ratio of
the progeny will be 9:3:3:1.

 Presence of linkage either in coupling or repulsion phase will lead to significant deviation
from 9:3:3 :1 ratio.

 The deviation of observed values from the expected ratio is tested with the help of X2
test
Significance of linkage
 1. Linkage limits the variability among the individuals.
 2. Linkage between two or more loci controlling different desirable characters is
advantageous for a plant breeder.A linkage between genes controlling two different
desirable characters will help in simultaneous improvement of both the characters.
 3. Linkage is undesirable when desirable and undesirable genes are linked together.
 4. The estimates of genetic variances for quantitative characters are greatly influenced by
the presence of linkage
 5. Linked genes can be mapped on a chromosome by studying how often their alleles
recombine.
Characteristic features of Linkage
 1. Linkage involves two or more genes which are located in same chromosome in a linear
fashion.
 2. Linkage reduces variability.
 3. Linkage may involve either dominant or recessive alleles (coupling phase) or some
dominant and some recessive alleles (repulsion phase) .
 4. It may involve either all desirable traits or all undesirable traits or some desirable and some
undesirable traits.
 5. It is observed for oligogenic traits as well as polygenic traits.
 6. Linkage usually involves those genes which are located close to each other.
 7. The strength of linkage inversely depends on the distance.
 8. Presence of linkage leads to higher frequency of parental types than recombinants in test
cross. When two genes are linked the segregation ratio of dihybrid test cross progeny
deviates significantly from 1:1:1:1 ratio.
 9. Linkage can be determined from test cross progeny data.
 10. If crossing over does not occur, all genes located on one chromosome are expected to be
inherited together.Thus the maximum number of linkage groups possible in an organism is
equal to the haploid chromosome number.
 Examples - Onion 2n = 16 n = 8 maximum linkage groups possible = 8
 Maize 2n = 20 n = 1o maximum linkage groups possible = 10
 11.Linkage can be broken by repeated intermating of randomly selected plants in segregating
population for several generations or by mutagenic treatment
Linkage and Pleiotropy

 A close association between two or more characters may result either due to linkage or pleiotropy
or both.
 Pleiotropy refers to the control of two or more characters by a single gene.
 A tight linkage between two loci can be often confused with pleiotropy .
 The only way to distinguish between linkage and pleiotropy is to find out a crossover product
between linked characters.
 lntermating in segregating populations may break a tight linkage, but a huge population has to be
raised to find out the crossover product.
 If a cross over product is not found in spite of repeated intermatings there seems to be the case of
pleiotropy rather than linkage.
Q. The tendency of the genes located on the
same chromosome, to stay together in
hereditary transmission, is known as;
a. Linkage
b. Crossing over
c. Sex determination
d. None of these
Q. ……………….pro­posed chromosomal theory of
linkage;
a. Morgan and Castle
b. Muller
c. Mendel
d. Bateson
Q. Dominant alleles present on the same
chromosome and recessive alleles present on
same chromosomes shows;
a. Coupling phase
b. Repulsion phase
c. Recessive phase
d. None of these
CROSSING OVER
Crossing over refers to the interchange of parts between
non-sister chromatids of homologus chromosomes during
meiotic prophase (pachytene).

The term crossing over was first used by Morgan and


Cattell in 1912

Results in the recombination of genes.

1,or 2, or more fragments may be interchanged during


crossing-over.

164
Chiasma was first discovered by Janssens 1909.

Chiasma terminalization- The movement of chiasma away


from centromere and towards the end of tetrads.

1. Electrostatic hypothesis-repulsion force

2. Coiling hypothesis –mechanical tension

3. Elastic chromosome repulsion- any change


Relationship between crossing over and chiasma formation

1 Classical theory
 First chiasma is form and then crossing over takes place.
 Crossing over is result of chiasma formation.
 In this case 1:1 ratio is not found between chiasma and crossing
over.
 Because chiasma may not lead to brekage and subsequent genetic
crossing over.
2 Chiasma type theory
 Proposed by Janssens and later on elaborated by Bellings and
Darlington.
 First crossing over occurs and then chiasma is formed.
 In this case 1:1 ratio is found between crossing over and chiasma.
 At present most accepted.
MOLECULAR MECHANISMS OF CROSSING OVER

1. COPY CHOICE THEORY-

2. BREAKAGE AND REUNION THEORY


1. COPY CHOICE THEORY

his theory was proposed by Belling

1. According to this theory breakage and reunion does not occur,


while it has been observed cytologically.
2. Generally crossing over takes place after DNA replication but here
it take place at the same time.
168
2. BREAKAGE AND REUNION THEORY
 Proposed by C. D. Darlington in 1935.

Most accepted theory .

169
1. SINGLE CROSSING-OVER
.

 Only one chromatid of each chromosome is


involved in single crossing over.

Single crossing over is of most frequent


occurrence.
2. DOUBLE CROSSING-OVER

Both the chiasmata may be between the same


chromatids or between different chromatids.

Two, or three, or all the four chromatids of the


homologous pairs of chromosomes are involved in
the process of double crossing-over.

Double cross-over gametes are produced.

This is of less frequent occurrence.


3. MULTIPLE CROSSING-OVER

More than two chiasmata are formed.

Corresponding to the number of chiasmata


formed, it is called triple (3 chiasmata), quadruple (4
chiasmata), and so on.

Multiple crossing-over does not occur frequently.


FACTORS AFFECTING CROSSING OVER

1. Distance
2. Age
3. Temperature
4. Sex of an individual
5. Nutrition
6. Chemicals
7. Irradiation
8. Structural Changes
9. Centromere effect
10.Cytoplasmic Genes

175
SIGNIFICANCE
 Provides a direct evidence of the linear
arrangement of genes in the chromosomes.

Chromosome maps can be constructed.

Gives rise to new combinations of genes, and


hence, variations in offspring.
177
CHROMOSOME MAPPING

Chromosome map refers to a line diagram which depicts


various genes present on a chromosome and recombination
frequency between them.

Sturtevant, (1913) constructed first chromosome map showing the


position genes on the X chromosome

Also known as “Genetic maps or Linkage maps”

178
GENE MAPPING

 Refers to the analysis


of loci on the genome
revealing the linear order
of different genes on the
chromosomes.

Two types of gene


maps.
1)Physical maps
2)Genetic maps
PHYSICAL MAPS
 Based on the assignment of loci to chromosomes.
Accomplished by the methods

1) somatic cell hybrid panels,


2) in situ hybridization,
3) comparative mapping.

In physical maps the coordinates are the chromosome


regions or bands.
The distance between two loci are measured in kilobases.
GENETIC MAPS
Constructed by studying the meiotic recombination between
two or more loci through linkage analysis.

A new locus are assigned to a chromosome following the


inheritance of the new locus and of an already mapped locus.

Do not provide an absolute location of loci but they reveal


the genetic distance of the loci as a function of the frequency of
crossing-overs occurring during recombination.

Provides an ordered array or sequence tagged sites along the


chromosome.
GENETIC DISTANCE

Expressed in units of crossing over or centimorgan (cM).


One cM equals 1% crossing over and contains
approximately 1000 kb.
i.e, two loci which show 1% recombination are 1 cM apart on
a genetic map.
In a linkage a new locus is assigned based on an already
known locus.
It shows that a reference locus is a prerequisite for the
purpose.
One map unit is defined as the linkage distance
that yields 1% recombination.

When a large number of genes are mapped in


any given species, the genes are observed to
occur in linkage groups, with one linkage group
corresponding to each pair of chromosomes.
FISH – (Fluorescent In Situ Hybridization)

Highly effective, rapid technique for use in gene


mapping.

Probes are labeled with fluorochrome dyes which


fluoresce in different colours when excited by UV–light.

Location of the probes are visualized under


Epifluoresence microscope.
CHROMOSOME PAINTING

It is one of the application of FISH techniques.

The direct visualization of specific chromosomes by


fluorescent detection by hybridized labeled whole
chromosome probes is called Chromosomes painting.

Used to improve the accuracy of cytogenetic studies,


closing the gap between cytogenetic and molecular
analysis.
Whole chromosomes specific probes are called ‘paints’.

Used in identification of species specific chromosomes


among somatic cell hybrids.

Used in detection of Chromosomal rearrangements or


abnormalities for which no locus–specific probes are
available.
THREE POINT TEST CROSS

A three-point test cross is a technique used in genetic mapping


when considering the inheritance of three alleles.

It can be used to order three loci on a chromosome, and map


the distance between these loci in centimorgans (cM).

INTERFERENCE

COINCIDENCE

187
Somatic Cell Genetics
&
Extra Chromosomal Inheritance
Extra Chromosomal Inheritance
 The transmission of characters from parents to their offspring is
governed by plasma genes which are contained in chloroplasts or
mitochondria.
 It is known as cytoplasmic inheritance or extra-nuclear
inheritance or extra-chromosomal inheritance or non-mendelian
inheritance or organellar inheritance.
 Cytoplasmic inheritance was first reportedby Correns in 1909 is
Mirabilis jalapa for leaf colour.
 Cytoplasmic inheritance exhibit reciprocal differences, maternal
effects, non-mendelian segregation (somatic segregation) and
infection like transmission.
 Presence of DNA in Chloroplasts was first demonstrated by Ris
and Plaut in 1962.
 In 1963, Nass and coworkers proved the existence of DNA in
mitochondria.
 Mapping of plasma genes is also difficult. Thus cytoplasmic
inheritance differs from Mendelian inheritance in several aspects.
Classes of Extra Chromosomal Inheritance
(1) Maternal effects:
I. Coiling pattern of shell in snail
II. Pigment in flour moth
(2) Inheritance due to infective particles:
I. Kappa particles in paramecium
II. Sigma particle in Drosophila
(3) cytoplasmic inheritance:
I. Plastid inheritance- Mirabilis jalapa, Oenothera, Iojap in
maize, zebrina.
II. Mitochondrial inheritance- CMS, Pokyness in
Neurospora, Petite yeast and chlamydomonas.
Coiling pattern of shell in snail
Pigment in flour moth
Kappa particles in paramecium
 Sonnebern discovered Kappa particles in paramecium in 1943.
Plastid Inheritance in Mirabilis
jalapa
 Leaves of Mirabilis jalapa, the four o’
clock
plant, may be green, white or
variegated.
Some branches may have only green,
only white or only variegated leaves.
Correns made crosses in all
combinations among the flowers
produced on these three types of
branches.
Leaf phenotype Leaf phenotype Leaf phenotype
of the branch of the branch of
used as female used as male the progeny
parent parent
Green Green Green
Green White Green
Green Variegated Green
White Green White
White White White
White Variegated White
Variegated Green Green , white
and variegated
Variegated White in variable
Variegated Variegated ratios in each of
the cases
Iojap Inheritance in Maize
 In 1924, Jenkins described iojap leaf
variegation in maize which was later
investigated in considerable details by
Rhoades.

 In Maize, three types of leaves are found, viz.,

Green leaves (Normal Plastids)


Iojap leaves (green and white stripes) (mixture of
N & M)
White leaves (Mutant plastids)
Crosses between green female and iojap male produced
all green individuals in F1 and a single gene segregation
ration, i.e., 3 green and 1 iojap in F2.
However, the reciprocal cross (iojap female x green male)
produced individuals with all the three phenotypes, viz.,
green, white and striped in F1
Depending upon the presence of these three types of plastids in the
egg cell, a cross between iojap and green will produce three types
of individuals, viz., green, white and striped in F1, because male
parent does not contribute cytoplasm and thereby plastids to the
zygote.
Inheritance of Iojap striping in corn
showing dependence on the
phenotype of female parent
CMS
 Rhoades described CMS in maize in 1933.
CHLAMYDOMONAS
 In 1954, Ruth Sager described cytoplasmic (Uniparental )inheritance of streptomycin resistance in
Chlamydomonas
Significance
 Cytoplasmic inheritance is useful in developing
cytoplasmic male sterility in various crops.

 It has also helped in explaining the role of


mitochondria in manifestation of heterosis.

 Chloroplast and mitochondrial genome mapping


in yeasts, chlamydomonas, maize, human, etc.

You might also like