BRIEF

HISTORY
OF
GENETICS
 TERMINOLOGIES
• Genetics : Branch of biology-
study of heredity and variation

• Heredity : Transmission of traits from

parents to offspring

• Cytology : Study of structural and functional

organization of the cell

• Cytogenetics : Study of chromosomes and its

implication in genetics
1865 - Gregor Mendel- Father of
Genetics

- Experimenting on pea plants.

- A trait may not show up in an individual but

can still be passed on to the next generation

- Discovered the way in which traits are passed

from one generation to the next

3
 1869
Fredrich Miescher
Successfully isolated nuclein from pus cells
obtained from discarded bandages.

He noticed that nuclein was acidic, contained a

lot of phophorus and nitrogen and was found in
the nucleus of cells.

Nuclein eventually became

known as DNA

4
 1900
Gregor Mendel

1865 : Mendel’s paper published

Proc. of the Brunn Society for
Natural History
1900 : Hugo de Vries, Carl
Correns and Erich Von Tschermak
independently rediscovered
Mendel's results on the
inheritance of characters.

5
 Theodor Boveri 1888-90
Walter Sutton - 1902
The Boveri-Sutton Chromosome
Theory:
• suggested that chromosomes are
paired and may be the carriers of
heredity
• suggested that Mendel’s "factors" are
located on chromosomes

6
1909 : Johannsen introduced the word gene,
genotype & phenotype

7
 1910
Thomas Hunt Morgan
• Morgan proved that genes are carried on chromosomes.
• He worked with fruit flies (Drosophila melanogaster).
• He also demonstrated the existence of sex-linked genes.
• Coined – “linkage” and “recombination”

The Nobel Prize in Physiology or Medicine 1933

10
 1928
Fred Griffith

• Studied different strains of

pneumococci, the bacteria that
can cause pneumonia.
• Griffith’s discovery of
transformation in Diplococcus
pneumoniae

9
 1929
Phoebus Levene

• He identified the deoxyribose sugar in

“thymus” nucleic acid and the ribose
sugar in “yeast”nucleic acid.
• Also identified the nitrogenous
bases: adenine, guanine, cytosine and
thymine in “thymus” nucleic acid and
uracil in “yeast” nucleic acid.

10
 1944
Avery, MacLeod and
McCarty

Pneumococcal
transforming principle is
‘DNA’
11
 1950
Erwin Chargaff
Discovered that in DNA, the
amount of Adenine is equal to the
amount of Thymine and the
amount of Guanine is equal to the
amount of Cytosine.

• Chargaff”s Rule:
A=T
G=C
12
 1952
Alfred Hershey and Martha
Chase

Hershey and Chase

demonstrated that the
genetic material of
bacteriophage T2 is DNA

13
 1951-1953
Rosalind Franklin
• Franklin was responsible for
much of the research and
discovery work that led to the
understanding of the structure
of deoxyribonucleic acid,
DNA.
• Franklin used x-ray diffraction techniques
with DNA.
• She extracted finer DNA fibers and
arranged them in parallel bundles.
14
 1953
James Watson and Francis Crick
▪ The Nobel Prize in
Physiology or Medicine
1962
James Watson, Francis Crick,
Maurice Wilkins
"for their discoveries
concerning the
molecular structure of
nucleic acids and its
significance for
information transfer in
living material“
15
Watson and Crick’s worked out the
double helix structure of DNA - using the X
ray diffraction data of Wilkins and base
composition data of Chargaff.

Specifically, the large adenine molecule could pair with

only the smaller thymine and the large guanine
molecule could pair with only the smaller cytosine.

16
 1957
Arthur Kornberg

• Discovered and isolated DNA

polymerase, which becomes the first
enzyme used to make DNA in a test tube.
• Also proves that the strands are
anti-parallel and that replication proceeds
only in one direction (5’to3’)

17
 1958
Meselson and Stahl
• Their experiment determined the mechanism
of DNA replication
• DNA replication was semiconservative

18
 The 1970’s
• This decade is when human beings began
to systematically control, manipulate and
exploit DNA technology.
• It marked the beginning of recombinant
DNA technology, gene splicing and the first
biotechnology company, Genentech.

19
• 1970. Isolation of "reverse transcriptase," a
restriction enzyme that cuts DNA molecules at specific
sites. This allows scientists to create clones and observe
their function.

• 1972 - creation of the first recombinant DNA

molecule.
- The first successful DNA cloning experiment was
performed in California.

• 1973 - Scientists successfully transferred DNA from

one life form to another, creating the first recombinant
DNA organism.

20
• 1976 – Herberg Boyer and Robert Swanson found
Genentech Inc., the first biotechnology company
dedicated to developing and marketing products
based on genetic engineering technology.

• 1977- a man-made gene was used to manufacture

a human protein in bacteria for the first time.

• 1978- successful production of human insulin using

recombinant DNA technology

21
 The 1980’s
• A combination of the computer revolution and
more easily available enzymes led to the creation
of several new technologies like the polymerase
chain reaction (PCR) and automated gene
sequencers.

• These in turn would make the job of mapping the

entire human genome possible

22
 1990 to Now…

• Human clones are created in Petri dishes,

genes are dissected, the infant field of gene
therapy begins and the first mammalian living
clone is created.
• 2001 – The complete map of the human
genome is published.

23
References
• Gupta PK. 2014. Genetics 4th ed. Rastogi
Publications.
• Inbasekar P. 2009. Cell Biology and Genetics.
Panima Publications.
• Miglani GS. 2000. Basic Genetics. Narosa
Publishing house, New Delhi.
INTRODUCTION TO GENETICS
• Genetics is the scientific study of the mechanism of heredity and variation.

• Hereditary characteristics are determined by elementary units transmitted between generations in

uniform predictable fashion.

• Each unit called a gene must satisfy at least two essential requirements:

1. Inherited in such fashion that each descendant has a physical copy of the material
2. Provides information to its carriers in respect to structure, function and other biological attributes.
• William Bateson introduced the term "genetics"

(from the Greek word genno: to give birth) to describe the study of inheritance and the science of
variation

Term "genetics" first used publicly by Bateson, 3rd International Conference on Plant Hybridization
in London in 1906.

• Terms gene, phenotype and genotype were coined by Johannsen and first used from 1909.

• Variation in inheritance is a fundamental concept in Darwin's theory of evolution.

• Drosophila melanogaster is the convenient model for the study of genetic principles.
APPLICATIONS OF GENETICS

• Eugenics: Genetics has suggested suitable possibilities for the betterment of human race through
certain fundamental laws of heredity.

• Agriculture: A significant advance in agricultural and animal genetics and breeding improved the food
production. "green revolution" and "white revolution“, GMOs

• Medical science: Genetics has significant applications in the various human heritable diseases
diagnosis and treatment.

• Forensic investigations: Genetics is helpful in solving various legal problems with ease.

• Genetics has removed various faulty beliefs and misunderstandings concerning the heredity which
commonly prevailed among the, different human societies.

• Understanding the genetic basis of diseases, diagnosis, gene therapy, vaccines

HISTORY OF GENETICS

• Gregor Johann Mendel who is called the "Father of Genetics" for his study on the inheritance of
traits in pea plants.

• Rediscovery by the three scientists: Hugo de Vries (Holland), Carl Correns (Germany) and Erich
von Tschermak(Austria).

• History of genetics:

o Pre - Mendelian Ideas on Heredity

o Mendel

o Post - Mendel
 Pre Mendelian and Post
Mendelian Concepts of Heredity
 Pre-Mendelian Concepts of Heredity
Various views were prevailing about the process of heredity
before the rediscovery of Mendel’s laws of inheritance in 1900.
1. Preformation Theory- (1720-
1793)
2. Theory of Epigenesis- Wolff (1738-1794)
3. Theory of Acquired Characters- Lamarck (1744-1829)
4. Theory of Pangenes-Charles Darwin (1809-1882)
5. Germplasm Theory- August Weismann (1889)
Preformation Theory:

• This theory states that a miniature human, called

homunculus, is already present in the egg and

sperm which grows into human being after

formation of zygote.

• This theory was soon rejected because this could

not be proved scientifically.

 Theory of Epigenesis:

German biologist,
WOLFF ( 1738 – 1794 ) • The theory states that the egg and sperms are

undifferentiated cells.

• The differentiation into various organs/parts takes

place only after fertilization in the zygote resulting

in the development of adult tissues and organs.

• This concept is universally accepted.

 Theory of Acquired Characters:

French biologist Lamarck

(1744-1829). • This theory states that a new character once acquired by an
individual shall pass on to its progeny.
• It means if a man develops a strong muscle by exercise, all his
children would have strong muscles. On the other hand, if a
person becomes weak all his children would be weak.
• This concept was totally rejected by Weismann. He cut the tail
of mice for 22 successive generations and always got the
baby mice with tail.
 Theory of Pangenes:

English Naturalist, Charles • Very small, exact but invisible copies of each body organ and
Darwin (1809-1882) component (called gemmules) are transported by the blood
stream to the sex organs.
• These gemmules are assembled in the gametes.
• After fertilization these gemmules move out to different parts of
the body resulting in the development of respective organ.
• A defective gemmule will lead to the development of defective
organ in an individual. This theory too was rejected because it
lacked scientific basis.
 Theory of Germplasm:

German Biologist, August • Body tissues are of two types, viz., germplasm and
Weismann (1834-1914)
somatoplasm.
• The germplasm refers to the reproductive tissues or cells
which produce gametes.
• The somatoplasm includes all other body tissues which are
not related to sexual reproduction.
• Thus, transmission of characters from one generation to
other takes place only through germplasm.
• Any change in the germplasm will lead to change in the
next generation. This theory is accepted in a broad sense.
 Body tissue

Germplasm Somatoplasm

Independent of the body

 EVOLUTIONARY THEORY OF INHERITANCE
BY NATURAL SELECTION
PROPOSED BY CHARLES
DARWIN Evolution is due to natural selection of
small heredity variations according
among individuals of any species.

BATESON – DISAGREE - HE
BELIEVED EVOLUTION DUE TO
LARGE DISCONTINOUS VARIATIONS
PRE- MENDELIAN EXPERIMENTS

• Knight (1779) conducted experiments on pea much before Mendel but failed to
formulate the laws of inheritance because he could not use the mathematics to his
results.
• He crossed pigmented variety with unpigmented variety and F1 was pigmented.
• When F1 was selfed, F2 showed pigmented and non-pigmented plants. Since he did
not keep record on different types, he could not discover the mechanism of
inheritance.
PRE- MENDELIAN EXPERIMENTS

• [Link] (1733-1806), a German botanist performed hybridization experiments in

tobacco and compared the hybrids with their parents.
• He demonstrated that the hybrids may resemble one or the other parent or may be
intermediate between them. He also showed that both the parents make equal
contributions to the hybrids.
• Gartner (1772-1850) and Naudin (1815-1899) done experiments similar to Kolreuter
and they observed the similar results. However they could not apply mathematics to
their results.
Post-Mendelian Concepts of Heredity:

The basic principles of heredity were initially discovered by Mendel

in 1866 and rediscovered by three scientists de Vries, Correns and

Tschermak in 1900. Later on these principles were further clarified and

confirmed by several workers and some new concepts of heredity were

discovered. These new concepts were different from the findings of

Mendel. These concepts are often referred to as “Mendelian

Deviations” or exceptions or anomalies.

They include:
1. Incomplete dominance
2. Co-dominance
3. Multiple alleles
4. Linkage
5. Lethal genes
6. Genes interactions
7. Pleiotropic gene effect
8. Polygenes
9. Environmental effects and
10. Cytoplasmic or maternal effects.
1. Incomplete Dominance (Blended 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 sported. For example, in

four o’clock plant (Mirabilis jalapa) there are two types of flowers: red

and white. A monohybrid cross between red and white flowered plants

produced plants with intermediate flower colour, viz., pink colour in

F1, and a modified ratio of 1 red; 2 pink: 1 white was observed in

F2 generation.
2. Co-dominance:

In co-dominance both alleles of a gene express their

phenotype in heterozygote. Blood group antigens of man present

an excellent example of co-dominance. The main difference

between co-dominance and incomplete dominance lies in the way in

which genes act. In case of co-dominance, both alleles are active,

producing functional proteins, while in case of incomplete

dominance only one allele (dominant) is active.

One of the most widely known, and the earliest recognized,

human blood groups is the ABO blood group. These blood groups

arise due to the presence (or absence) of an antigen on the

surface of red blood cells; these antigens are produced by the

gene i. One dominant allele of this gene, IA, produces antigen A

which gives rise to blood group A.

Another dominant allele of the gene i, IB produces antigen B

which is responsible for blood group B. In the heterozygote IAIB,

both alleles lA and IB produce their respective antigens; as a

result, the heterozygotes are classified in the AB blood group.

Marriages between heterozygotes IAIB, having blood group AB,
produce three types of progeny. One-fourth of their progeny
are homozygous for the allele IA (IAIA) and have A blood group,
while another one-fourth have B blood group since they are
homozygous for the IB allele (IBIB) . The remaining one-half of the
progeny have AB blood group as they are heterozygous (IAIB)
and possess both the antigens A and B on the surface of their
red blood cells. Thus co-dominance also produces [Link] ratio in
F2(Fig. 5.7).
3. Multiple Alleles:

Mendel always observed two allelic forms of a gene. Now

cases are known where a gene has more than two allelic forms,

although only two of them can exist in a diploid cell at a time.

Existence of more than two alleles for a gene is called multiple

alleles. Examples of multiple alleles are ABO blood group alleles

in human, coat colour in rabbit and self-incompatibility alleles in

tobacco.
4. Linkage:

Mendel always observed independent assortment of genes, but

later on Bateson and Punnett (1906) in sweet pea, Hutchinson in

maize and Morgan (1910) in Drosophila observed that genes have

tendency to inherit in groups rather than individually. This tendency

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

during inheritance is called linkage.

5. Lethal Genes:

A gene that causes death of its carrier when in homozygous

condition is known as lethal gene. Mendel’s findings were based

on equal survival of all genotypes. In the presence of lethal

genes, the normal segregation ratio of 3: 1 is modified into 2:

1 ratio. Lethal genes have been reported both in animals as well

as plants.
Coat colour in mice is an important example. Here allele for

yellow coat colour is dominant over grey. When a cross is made

between yellow male with yellow female, a ratio of 2: 1 for

yellow and grey was observed. This indicated that yellow mice is

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 character.

6. Gene Interactions:

When the expression of an allele of one gene pair depends

on the presence of a specific allele of another pair, it is known

as gene interaction. Mendel observed [Link] ratio in F2 from a

di-hybrid cross. Later on many deviations of this phenotypic ratio

were observed in di-hybrid crosses. The modified ratios included

9: 7; 9: 3: 4; 12: 3: 1; 13: 3; 15: 1 and 9: 6: 1 in different crop

plants.
7. Pleiotropic Gene Effects:

Mendel observed that one gene controls the expression of only

one character (trait). Later on cases were observed in which one

gene was found to control the expression of two or more traits.

Example is white eye allele in Drosophila. This allele affects eye

colour, shape of spermatheca, fecundity and testicular

membrane.
8. Polygenes:

Mendel always observed that each character is controlled by

a single gene. Later on Nilsson Ehle observed that some

characters are governed by several genes and each of such gene

has additive effect in the expression of character. This concept led

to the foundation of polygenic inheritance.

9. Environmental Effects:

Genes can interact not only with genes but also with the

environment to produce the phenotype. Thus, phenotype is the

result of the interaction between genotype and environment.

It leads directly to the concept of penetrance and expressivity.

The importance of environment was first realized by Johannsen.

He coined the term genotype and phenotype.

10. Maternal Effects:

Mendel did not observe any difference between direct and

reciprocal crosses. Later investigations revealed the presence of

significant difference in the reciprocal crosses, which led to

the concept of “cytoplasmic inheritance”.

Mendelian
Principles

By
Dr. M. Abhinaya
 Scope/Applications of Genetics

Genetics has scope/role in following fields:

[Link] as basis of Biological sciences:
Provide foundation for biological studies. Laws of inheritance help us to
understand the principles of embryology, population, taxonomy, evolution and
ecology.
[Link] of genetics in food production:

Rules of genetics help to introduce new varities of plants and livestock.

[Link] control:

Gene therapy help to cure many genetics based diseases.

[Link] of Wild life:

Conservation of wild life can be achieved in one way by conserving the germplasm
of endangered species.
[Link] Engineering/Biotechnology:

Genetic Engineering has many applications including

[Link] of transgenic crops
[Link] Therapy
[Link] in Food production
[Link] of Genetic Diseases
[Link] mapping

[Link] Genetics:

It studies the influence of varying genetics on animal behavior.

[Link] Genetics:

There are several genetic disorder exist physicians are trained to

diagnose and treat.
[Link] Genetics:

It focus on structure and function of gene.

[Link] and Ecological Genetics:

Population and ecological genetics are closely related subfields of

genetics. Population genetics is the study of distribution and change in
allele.

[Link]:

It allows the study of large scale genetic pattern i.e genomic

sequence
´ Gregor Johann Mendel, father of Genetics, was
born in Austria.
´ After completing his studies, he became a teacher
and in 1857 began his experiments on garden
peas.
´ After seven years of experimentation he
presented his findings before the Natural History
Society of Brunn during 1865.
´ His paper was published in the annual
proceedings of the society in 1866 entitled
“Experiments in plant Hybridization” and he died
in 1884.
- Mendel’s work was not recognized until 1900. In 1900, his finding
was discovered independently by three scientists Hugo De Vries of
Holland, Carl Correns of Germany and Eric Von Tschermak of
Austria.

William Bateson
There were two objection on Mendel’s work
1. Heredity is discontinuous
2. Biologists were not sure about the application of Law on all species
W. Bateson was most active promotor of Mendel’s work in Europe. He
coin many terms related to genetics including the word genetics.
- R.A Fisher
Described that Mendelian factors (genes) were involved for
individual traits
Benefits of having chosen
garden pea
1. These are annual plants.
2. They can be grown all around the year
3. Pea plants have constant clear-cut alternatives of
characters.
4. They could be grown easily.
5. They are normally self- fertilizing. But cross-fertilization
can be done.
6. They can be crossed easily.
7. Hybrids are fully fertile.
Characters studied by Mendel
Mendel studied seven pairs of contrasting characters.

Characters Differences

Colour of unripe pods Green Yellow

Shape of the pods Inflated Constricted

Colour of seed Yellow Green

Shape of the seed Round Wrinkled

Position of Flowers Axial Terminal

Colour of the flowers Purple White

Length of the stem Tall Dwarf

Mendel studies seven characteristics in the garden pea
For each monohybrid cross, Mendel cross-fertilized true-breeding
plants that were different in just one character—in this case, flower
color. He then allowed the hybrids (the F1 generation) to self-
fertilize.
 Typical breeding experiment

P generation (parental
generation)
F1 generation (first filial
generation, the word
filial from the Latin
word for "son") are the
hybrid offspring.
Allowing these F1
hybrids to self-
pollinate produces:
F2 generation (second
filial generation).

It is the analysis of this

that lead to an
understanding of
genetic crosses.
Laws of Mendel

1. Law of Dominance

2. Law of Segregation

3. Law of Independent Assortment

Law of Dominance
When parents with pure, contrasting traits are
crossed together, only one form of trait appears in
the next generation.

´ Parents Tall X Dwarf

(TT) (tt)
Gametes
T t

´ F1 Tt
(tall plants)
 Law of Dominance
In the monohybrid cross (mating of two organisms
that differ in only one character), one version
disappeared.

What happens when the F1’s are crossed?

The F1 crossed
produced the F2
generation and
the lost trait
appeared with
predictable
ratios.

This led to the

formulation of
the current
model of
inheritance.
Genotype versus phenotype.
Testcross
A testcross is designed to reveal whether an
organism that displays the dominant phenotype is
homozygous or heterozygous.
 Law of Segregation
The two members in a pair of alleles separate
during gamete formation in such a way that each gamete
contains only one member of every pair of genes.

´ Parents Tall X Dwarf

(TT) (tt)
Gametes T t

´ F1 Tt (tall plants)

´ F2 TT Tt Tt tt
(3:1)
F1 Tt (tall plants)

Gametes T t T t

T t
T TT Tt
t Tt tt

v TT – Pure Tall plants

v Tt – Hybrid Tall plants
v tt – Pure Dwarf plants

3:1 - 3 plants tall and 1 plant dwarf

Law of Independent Assortment

The alleles of two (or more) different genes get

sorted into gametes independently of one another.
- The allele a gamete receives for one gene does
not influence the allele received for another
gene.

- Mendel gave this law after observing two or

more different traits.
 Law of Independent Assortment

´ Parents Yellow Round X Green Wrinkled

(YYRR) (yyrr)
Gametes
Y R y r

´ F1 YyRr (yellow round plants)

´ F2 [Link]

Yellow round – 9
Yellow wrinkled – 3
Green round – 3
Green wrinkled - 1
 (YR) (Yr) (yR) (yr)

(YR) YYRR YYRr YyRR YyRr

Yellow Yellow Yellow Yellow
Round Round Round Round

(Yr) YYRr YYrr YyRr Yyrr

Yellow Yellow Yellow Yellow
Round Wrinkled Round Wrinkled

(yR) YyRR YyRr yyRR yyRr

Yellow Yellow Green Green
Round Round Round Round

(yr) YyRr Yyrr yyRr yyrr

Yellow Yellow Green Green
Round Wrinkled Round Wrinkled
 Important terminologies
´ Allele - Alternative form of a gene occupying the same
locus of the homologous chromosome.
´ Homozygous - Individual having identical alleles for a
character
´ Heterozygous - Individuals having two different alleles for a
particular character.
´ Dominance - The suppression of expression one allele by
another allele of the same gene is called dominance.
´ Recessive - The characters which lack the ability to express
in F1 generation is called recessive.
´ Genotype - Genetic constitution (make up) of an
individual is called genotype. The genotype of tall plant is
TT/Tt and dwarf plant is tt.
´ Phenotype - The appearance of an individual produced
by the genotype in co-operation with the environment is
called phenotype.
References

´ Mendel's law of segregation

´ Law of segregation
´ Laws of inheritance
´ Law of Independent Assortment
 MODEL ORGANISMS
•[Link]
•Arabidopsis
•Drosophila
•Garden pea
 WHAT IS A MODEL ORGANISM????

• A model organism is a non-human species that is suitable for

studying a specific trait, disease, phenomenon, due to its short
generation time, characterized genome, or similarity to humans.
• Model organisms are in vivo models and are widely used to
research human disease when human experimentation would be
unfeasible or unethical.
• Examples:- Fly, fish, rodent or pig, whose biology is well known
and accessible for laboratory studies.
FEATURES TO BE CONSIDERED WHILE SELECTING
MODEL ORGANISM
• Small size.
• They must develop rapidly with short generation time.
• Must be amenable to observation and experimentation.
• Availability of genome sequence.
• Easy for transformation.
• A comprehensive online database.
• A growing array of tools and techniques for molecular genetic studies.
• E.g:- Genetic manipulation, identification and selection of genes.
ESCHERICHIA COLI

• Escherichia coli or E. coli is a Gram-negative, rod- shaped

bacteria that is a normal inhabitant of the lower
gastrointestinal tract of warm blooded animals.
v E. coli is expelled into the environment within faecal
matter. The bacterium grows massively in fresh faecal
matter under aerobic conditions for 3 days, but its
numbers decline slowly afterwards.
v The E. coli genome is relatively small, 4.5 to 5.5 Mbp
and simple when compared to our own.
 E. COLI IS A MODEL ORGANISM BECAUSE…

• It is an unicellular organism.
• There are no ethical concerns about growing, manipulating, and killing bacterial
cells, unlike multicellular model organisms like mice or chimps.
• They are able to reproduce and grow very rapidly, doubling its population about
every 20 minutes.
• We can get subsequent generations within a short time.
• They can survive and adaptive to variable growth conditions.
 E. COLI IS A MODEL ORGANISM BECAUSE…

• Culture media containing simple and inexpensive ingredients and nutrients can help E. coli
to grow and divide.
• It is easy to culture in laboratory in liquid medium or solid medium within petriplates.
• Easy to isolate genetically pure strains of the bacteria.
• Most strains are harmless.
• They can be manipulated and engineered easily.
• Mutants are easily obtained using well established methods and screening techniques,
enabling many biochemical processes to be linked to the molecular & genetic level.
 ARABIDOPSIS THALIANA

• Arabidopsis is a popular model organism used in plant biology and

genetics.
• It is a member of Brassicaceae family.
• It is a small flowering weed.
• It grows luxuriantly in temperate regions of the world.
• They vary in size, shape, physiological characters and DNA sequence.
• It has a small genome
• It has only 5 chromosomes.
ARABIDOPSIS IS A USEFUL MODEL PLANT

• Simple genome.
• Easy maintenance and space-efficient.
• Lot of similarities with other plants.
• Potential to help in increase of food production, quantity and quality to
feed a growing world population.
• Each plant can produce 10,000 to 40,000 seeds.
• It has ability to grow in the laboratory.
 ARABIDOPSIS IS A USEFUL MODEL PLANT

• Easy to transform in the laboratory.

• Many variants are available.
• Ability to self fertilization and out cross.
• It is the first plant to have Complete genome sequenced in year of 2000.
• Mostly used in the study of genome structure, gene regulation, development and
evolution of plants.
 DROSOPHILA

• The fruit fly (Drosophila melanogaster) has been extensively

studied for over a century as a model organism for genetic
investigations.
• It has many characteristics which make it an ideal organism
for the study of animal development and behavior,
neurobiology, and human genetic diseases and conditions
• Approximately 60% of a group of readily identified genes that
are mutated, amplified, or deleted in a diverse set of human
diseases have a counterpart in Drosophila
WORK ON FRUITFLY

• Thomas Hunt Morgan (1866-1945) developed Drosophila as a model system in 1909. Morgan, along
with his students, Calvin Bridges, Alfred Sturtevant, and Hermann Muller, made some of the most
important discoveries in genetics through their work with Drosophila.

• Among these were the –

- genetic explanation of sex linkage (the location of a gene on a sex chromosome);

- proof that genes are contained on chromosomes;

- the demonstration that genes are arranged on a chromosome in a linear order with fixed,
measurable distances between them, the principle that underlies genetic mapping
 BENEFITS OF FRUIT FLY
The fruit fly has many practical features that allow scientists to carry out
research with ease:
uA short life cycle
uEase of culture and maintenance
uLess number of chromosomes
uSmall genome size (in terms of base pairs)
uGiant salivary gland chromosomes, known as polytene chromosomes.
uShare, on the molecular level, many similar features and pathways with
humans.
 LIFE CYCLE OF DROSOPHILA MELANOGASTER

uThe female fruit fly, about 3 mm in

length, will lay between 750 and
1,500 eggs in her lifetime.
uThe life cycle of the fruit fly only
takes about 12 days to complete
at room temperature (25°C).
uAfter the egg (at a mere half a
millimeter in length) is fertilized,
the embryo emerges in ~24 hours

Image Source: Carolina Biological

Supply Company
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 Benefits of having chosen garden pea

1. These are annual plants.

2. They can be grown all around the year
3. Pea plants have constant clear-cut alternatives of characters.
4. They could be grown easily.
5. They are normally self- fertilizing. But cross-fertilization can be
done.
6. They can be crossed easily.
7. Hybrids are fully fertile.
 Why pea became the star?
■ Self-Pollinated ■ Short cycle

■ Grows easily ■ Large progeny

number
■ Contrasting
characters ■ Easy emasculation

■ Large flower ■ Easy pollination

■ Large seeds ■ Less space

2
 Monohybrid cross

Phenotypic
ratio-
3:1

Genotypic
ratio-
[Link]

3
 Dihybrid cross

Phenotypic
ratio-
[Link]

Genotypic
ratio-
[Link]
2:1

4
 Trihybrid ratio

Phenotypic ratio-
[Link]

27: offspring will show all three dominant traits.

9: offspring will show two dominant traits and one recessive trait.
9: offspring will show one dominant trait and two recessive traits.
3: offspring will show one dominant trait and two recessive traits.
3: offspring will show two dominant traits and one recessive trait.
3: offspring will show one dominant trait and two recessive traits.
1: offspring will show all three recessive traits.
Why Mendel’s predecessors failed?

Studied plant
as a whole

No clear cut Data and

class of record keeping
characters inadequate

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No complete No attempt to
pollination study
control frequencies

Quantitative
Less F2 plants
characters

7
Why Mendel’s story is a success?
1. Analysis of reasons of failures of earlier workers.

2. Inheritance of one character at a time.

3. Selection of garden pea.

4. Knowledge of mathematics.

5. Use of frequency relationships and statistics.

6. Record keeping accurate.

7. Formulated hypothesis and proved its correctness.

8. Ignored characters not following his results.

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 Why Mendel’s work was overlooked?
• Mendel used mathematical principles of probability.

• Mendel also did present his data in a way that was a typical for a botanist.

• His work on discontinuous characters was considered unimportant to Darwin, Galton and others.

• His results were based on discontinuous variation contrary to the continuous variation observable
by many biologists.

• Phenomenon of fertilization and behavior of chromosomes was not known at that time.

• Mendel’s findings failed on Hieraceum due to presence of apomixis and honey bees.

• Mendel did not publicise his findings through further writing after his first paper.

• In the 1860's the hot topic was Charles Darwin’s theory of evolution.

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 MENDEL DID NOT KNOW ABOUT
CHROMOSOMES
■ Early 19th century Cells and nuclei simply pinched in half to divide.
■ Eduard Strasburger (1875) Gives clear and detailed descriptions of cell division and
chromosomes in plants.
■ Walther Flemming (1879-1882) Describes ‘Mitosis’ in animal cells
■ Wilhelm Waldeyer (1888) Introduces the term ‘chromosome’.
■ Gregor Johann Mendel (1865) formulated his laws of heredity without the
knowledge of chromosomes.
■ 1900: When Mendel law were rediscovered, it became clear that the behaviour of
chromosomes at cell division (mitosis and particular meiosis) was exactly what was
needed to explain the distribution of hereditary factors.

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Deviations of Mendel’s Law

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 Incomplete dominace
■ Phenomenon discovered by Correns in
Mirabilis jalpa (4-o’Clock plant).

■ Expression of dominant gene is incomplete

or partial.

■ The type of relationship between alleles,

with a heterozygote phenotype intermediate
between the two homozygote phenotypes,
is called incomplete dominance.

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 Overdominance
■ Overdominance is the phenomenon in
which a heterozygote is more vigorous
than both of the corresponding
homozygotes.

■ It is also called heterozygote advantage.

■ Example Sickle cell anemia

Resistant to malaria

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 Linkage
■ Tendency of DNA sequences to stay close together on a chromosome and to
be inherited together during the meiosis phase of sexual reproduction.

■ It is the most prominent exception to Mendel's Law of Independent

Assortment.

■ In 1905, the British geneticists William Bateson, Edith Rebecca

Saunders and Reginald Punnett, cross-bred pea plants in experiments similar
to Mendel's.

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Why didn’t Mendel find linkage?
■ Mendel was very fortunate not to run into the complication of linkage during
his experiments.

■ Mendel worked with three genes in chromosome 4, two genes in

chromosome 1, and one gene in each of chromosome 5 and 7.

■ In hundreds of crosses shown by the genetic map of the pea, two characters
(seed coat color and cotyledon colour) in chromosome 1 are so distantly
located on the chromosome that no linkage is normally detected. The same is
true for pod shape, position of the flower and height of the plant, in
chromosome 4 and so on.

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 Pleiotropy

PHENYLKETONURIA (PKU)
■ This disorder is caused by a deficiency
of the enzyme phenylalanine
hydroxylase, which is necessary to
convert the essential amino acid
phenylalanine to tyrosine.
■ A defect in the single gene that codes
for this enzyme therefore results in the
multiple phenotypes associated with
PKU, including mental retardation,
eczema, and pigment defects that
make affected individuals lighter
skinned.

Eg- PHENYLKETONURIA (PKU)

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