GENETICS AND CYTOGENETICS

Genetics
 Genetics is the science of heredity and variation
 The term genetics was first used by Bateson (1905)

Nobel Prize winners in Genetics and Cytogenetics

Name of the Scientist Year of Invention for which award
Award
T.H. Morgan 1933 Gene theory and Linkage
H.J. Muller 1946 Induction of artificial mutation in Drosophila
Beadle and Tatum 1958 One gene one enzyme hypothesis in
Neurospora
Kornberg 1959 Isolation of DNA polymerase
Watson and Crick 1962 3D structure of DNA
Jacob and Monod 1956 Operon concept
Temin and Baltimore 1975 Reverse transcriptase
Nirenberg and Korana 1978 Genetic code and protein synthesis
Arber Nathans and Smith 1972 Restriction endonuclease
Berg Gilberg and Sanger 1980 Recombinant DNA technology
Barbara McClintock 1983 Transposable element or Jumping genes

Kary Mullis 1993 PCR technique

Roberts and Phillip Smith
Leland H. Hartwell, Tim Hunt
and Sir Paul M. Nurse
Sydney Brenner, H. Robert
Horvitz and John E. Sulton
Roger D. Kornberg
Venkatraman Ramakrishnan,
Thomas A. Steitz and
Ada E. Yonath
1993 Split genes and RNA property
2001 Discoveries of Key regulators of the cell cycle
2002 Genetic regulation of organ development and
programme cell death
2006 Molecular basis of eukaryotic transcription
2009 Structure and function of the ribosome

Cell structure
 Cell coined by Robert Hooke
 Nucleus term coined by Robert Brown
 Virchow- new living cell arise only by reproduction of pre- existing living organism
 Protoplast (Cytoplasm+ Nucleus) coined by Purkinje

A brief description and function of different cellular components

Cellular Description Function

component
A. Cell wall Plant cells are surrounded by a non- Provides definite shape,
living and rigid cellulosic coat, mechanical support and strength
called cell wall; a differentiated cell to tissues and organs.
has three distinct parts viz., middle
lamella, primary and secondary cell
walls.
Middle lamella Cementing layer between cells Gives integrity to tissues.
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 mainly consists of pectin.
Primary cell wall Present between middle lamella and
secondary cell wall, mainly consists
of cellulose.
Secondary Present between primary cell wall
cellwall and plasma membrane/cell
membrane.
B. Protoplast A plant cell devoid of cell wall.
1.Cell membrane Present around the cytoplasm,
consist of protein, cholesterol and
phospholipids.
2.Cytosol Fluid present of cytoplasm, enclosed
within cell membrane, surrounds the
nucleus.
3.Cytoplasam Semi-fluid substance, surrounded by
cell membrane, surrounds the
nucleus
4.Endoplasmic An extensive network of membrane-
recticulum (ER) enclosed spaces extended
throughout the cytoplasm from the
plasma membrane to the nuclear
envelope; consists of vesicles,
tubules and cisterns.
i).Rough E.R Ribosomes are attached to the
surface of endoplasmic reticulum
membrane.
ii). Smooth E.R Endoplasmic reticulum not
associated with ribosomes.
5.Ribosome Particles of about 200Ao diameter
composed of RNA and protein,
generally attached to the outer
surface of ER membrane and some
are also freely present in cytosol.
Ribosomes are synthesized from
nucleolus
6.Golgi Stacks of disc like membranous
apparatus structures; consists of 2-7 flat
cisternae stacked close to each other.
7. Mitochondria Organelle surrounded by double
concentric membranes, inner one
being infolded; an average cell may
have 200-800 mitochondria; consists
of protein, lipids, RNA and DNA.
Two membrane- bound discoid
8. Plastids shaped organelles, originated from
proplastids contain DNA.
i).Leucoplasts Colourless plastids.
a). Amyloplasts Contain starch grains.
Definite shale and mechanical
support.
Additional strength
Maintain chemical integrity of
cells; controls inflow and outflow
of materials; site of many
important reactions.
Most of the organelles are
suspended in cytosol; site of bulk
of cellular activity.
House organelles; vesicles and
inclusions; site of all cellular
activities, except those related to
chromosomes.
Rough ER, serves as site for
attachment of ribosomes;
smoother makes steroids; provides
site of protein modification and
trafficking.
Protein synthesis and
modification; also trafficking.
Serves as the site for protein
synthesis.
Involved in formation of cell wall,
lysosomes, vacuoles; packing
plant of cells.
Site of Krebs cycle and electron
transport system; converts energy
stored in food into the form of
ATP. Power house of the cell
Starch storage
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b). Proteinoplasts Contain proteins.
c). Elaioplasts Contains fats.
ii). Chloroplasts Green colour plastids, many contain
starch grains.
iii). Chromoplast Coloured plastids.
9. Centriole Present in animal cells.
10. Microbodies Gyloxysomes, peroxisomes and
spherosomes are collectively called
microbodies; diameter1-2 nm; these
are proteinacieious in nature and are
bounded by a single membrane.
i). Glyoxysome Usually seen in the cells of oilseeds,
e.g., peanut, castor contain several
enzymes of glyoxylate cycle.
ii).Peroxisomes In C3 plants, photorespiration takes
place in peroxisomes; absent in C4
plants.
Present in the cytoplasm rich in
iii). Spherosomes hydrolyzing enzymes, such as
esterases, proteases, phosphatases
and ribonucleases.
11.Ctyoskeleton The microfilamaents, microtubules
and intermediate filaments constitute
cyto-skeleton; these elements consist
of proteins.
i).Microfilaments Rod like stuructures containing the
protein actins.
ii). Microtubles Hollow cylindrical structure.
12.Lysosome Only present in animal cells,
membrane bound spheres, contain
hydrolytic enzymes.
13.Vacuoles Membrane surrounded, often large
spaces in the cytoplasm, loaded with
mineral, water, anthocynins.
14. Nucleus Spherical structure surrounded by
nuclear envelope contains nucleous,
nuclear sap chromatin fibres.
i).Chromatin Thread like structures consist of
fibres DNA and Protein (histone and non-
histone).
ii).Nucleoulus Rounded mass present in nucleus
associated with sat chromosomes
Protein storage
Lipid storage
Light energy trapped, transformed
and used to convert CO2 and water
into carbohydrate
Provide colour to fruits etc.
Formation of spindle fibers.
During germination, those bodies
function in the glyoxylate cycle
where fat is converted into
carbohydrates.
During photorespiration in these
organelles, glycolic acid is
oxidized to glyoxlic acid and
finally converted into amino acid,
glycine.
It is belived that these organelles
are involved in the storage and
translocation of lipids.
Plays an important role in
maintaining the structure and
function of cells.
Provides stuructural support and
assist in cell movement.
Assist in movement of cilia,
flagella and chromosomes provide
transport system.
Digestion of food material and
phagocytosis of germs.
Maintain turgidity of cell.
Control cellular activities and
determine biological
characteristics of organisms.
The place of ribosomes synthesis.
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Difference between Prokaryotic and Eukaryotic cell
Character Prokaryotes Eukaryotes
Multicelluar Rare Common
forms
Nucleus Nucleoid region (No real Real nucleus with double membrane.
nucleus)
Cytoplasmic Only unit membrane system of Presence of a multiplicity of unit
membrane majority of prokaryotes. Internal membrane systems. Many of internal
compartmentalization by unit unit membranes are structurally
membrane system is absent. different from cytoplasmic membranes.

Selective barrier between cell Less selective barrier than prokaryotic

and external environment cytoplamic membrane.
thandoes membrane of eukaryote
cell.

Exocytosis and Abesent. Hence it lacks Observed

endocytosis biological properties that are
dependent on the capacity for
endocytosis.
Respiration Among aerobic bacteria, Machinery of respiration is incorporated
respiratory electron system is into the inner membrane of
incorporated into cell membrane. mitochondrion.

Cell membrane Except for mycoplasma, thick
cell wall is always present,
which contains amino acid
sugars and muramic acid.
Cell division Binary fission (simple division)
Not always present, if present contain
simple substances like cellulose,
mannose, xylans.
Mitosis and Meiosis.

DNA Double standed, circular or Linear, double stranded

linear
Histone DNA never associated with DNA associated with histone.
histone proteins.

Ribosome 70 S type (50S+30S) 80s type (60S+40S)

Protein Starting amino acid in protein Starting amino acid in protein
synthesis synthesis methionine. synthesis-N- formylmenthionine.
Cell movement Flagella Flagella and cilia containing
microtubules, lamellipodia and
filopodia contain actin.

Flagella Simple in structure Complicated in structure, consisting of

2 central and nine peripheral double
fibrils.
Means of Asexual means in the haploid Diploidy is the character of many
reproduction state (diploid state may occur groups of eukaryotes.
rarely).
Chromosome
 The chromosome was first described by Strausberger (1875)
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  The term chromosome was first used by Waldeyer (1888)
 Chromosome (Chroma = Colour + Soma = Body)
 Chromosome are composed of thin chromatin threads called chromatin fibres
 Chromosome measurement are generally taken during mitotic metaphase
 Chromosomes are the longest and thinnest during interphase
 The region where two sister chromatids of a chromosome appear to be joined or held
together during mitotic metaphase

Cell cycle
 The period in which one cycle of cell division is completed is called cell cycle.
 A cell cycle consists of two phases – Interphase and Mitotic phase
 The interphase consists of G1, S & G2 phases.
 Mitotic phase consists of prophase, metaphase, anaphase and telophase.
 G1 & G2 are involved in RNA and protein synthesis; S is involved in DNA synthesis
 In cell cycle, mitosis is the shortest phase
Differentiate between mitosis and meiosis
Mitosis Meiosis
By Flemming By farmer and more
Equatorial division Reduction division
One nuclear division 2 stages (Meiosis I and Meiosis II).
2 Nuclear division
Prophase (longest phase) Meiosis I
Chromatin condensation Prophase : Leptotone : crown looks like a loose ball of
chromosome visible nucleolus& knitting wool, RNA synthesis occurs
Nuclear envelopes disappear. Zygotene: Paring of homologous of chromosomes,
synaptenomal complex is seen (synapsis).
Pachytene: Complete bivalent, Tetrad, Crossing over.
Diplotene: Chismata seen as a result of separation of
homologoug, Chiasma terminalization.
Diakinesis: Chromosome condensation nucleoi
disappears, chiasma terminalization.

Metaphase Metaphase I
Chromosome arranged in Bivalent orient at the middle of the equatorial.
equatorial plane.

Anaphase (shortest phase) Anaphase I

Division of centromere The centromere do not divide. Homologous move to the
chromosome moves to opposite opposite pole, this reduces the number of the
pole. chromosomes.

Telophase: Nucleolus reappears, Telophase I: Chromosome do not uncoil completely.

nuclear membrane reorganized. Meiosis II (Like mitosis)
Telophase II: Four haploids are produced and generates
into spores/ gametes.

Cytokinesis
Division of cytoplasm, two identical daughter cells, similar to mother cell.
Types of chromosome on the basis of number of centromeres
Type Number of centromeres

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Acentric Nil
Monocentric One
Dicentric Two
Tricentric Three
Polycentric Many
Holocentric Diffused (microtubules are attached along the length of
chromosome)

Types of chromosome on the basis of position of centromere

Type Position of Shape Details Examples
centromere
Metacentric Centre (Median) v-shape Equal arms Tradescentia,
amphibians.
Sub-metacentric Near centre( sub- Two unequal Two unequal Human being
median) arms arms
Acrocentric
Near at one end One arm very Grass hopper
(sub-terminal) short and
another long
Telocentric Terminal Rod like Drosophila

Structural aberrations
 Deletion: A portion of the chromosome is missing or deleted
 Duplication: Addition of chromosome segment resulting in extra genetic material.
 Inversion: Chromosome segment contains genes in a sequence, which is reverse of the
normal.
 Two types of inversion : Paracentric & Pericentric
(i) Paracentric – Inverted segment does not contain centromere
(ii) Pericentric – Inverted segment contains centromere
 Translocation: A portion of one chromosome is transferred to non-homologous
chromosome
Alleles
The various forms of a gene are called alleles or Alternate forms of a gene.
Monohybrid Cross
Cross involving one gene pair affecting one character. Such crosses give phenotypic
ratio of 3:1 and genotypic ratio of 1:2:1.
Dihybrid Cross
Two pair of genes are involved each affecting a different character. Such cross gives a
phenotypic ratio of 9:3:3:1 and genotypic ratio of 1:4:6:4:1
 Cross between two individuals - Direct cross
 When we change the order of individuals in crossing by reversing the male and female
– Reciprocal cross
 Backcross – Crossing of F1 with one of its parent
 Testcross – When F1 is backcrossed to homozygous recessive parent

No. of genes segregating Monohybrid Dihybrid Trihybrid

No. of gametes & phenotypes (2n) 2 4 8
No. of genotypes (3n) 3 9 27
No. of plants required (4n) 4 16 64

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Mendel’s law of Inheritance
 Gregor John Mendel, ‘”Father of genetics”.
 He conducted his experiment on pea and presented his paper on “Experiments on Plant
Hybridisation” at the Natural History Society of Brunn in 1865 and published in
German language.
 In 1900, Mendels paper was rediscovered by Hugo de vris in Holland, Correns in
Germany and Tschermak in Austria.
Reasons for Mendels success
 Study of contrasting forms of characters (seven) eg. Plant height (tall or dwarf)
 Pea plant are self pollinated, easy to grow and reproduce in one season
 Accurate record keeping
 Knowledge on mathematics
Laws of Mendel
 Law of segregation
 Law of Independent Assortment

Law of segregation
“The two alleles of a gene remain separate and do not contaminate each other in the F 1
or the hybrid. At the time of gamete formation in F 1, the two alleles separate and pass into
different gametes”.
As gametes formed are always pure, this law is also referred as principle of
segregation or principle of purity of gametes.
Eg. Red flower (RR) x White flower (rr)
F1 Red (Rr)
F2 Phenotypic ratio: 3 Red: 1 White
Genotypic ratio : 1 RR (Red) : 2Rr (Red) : 1rr (White)
Law of independent Assortment
The segregation of two or more characters in the same hybrid is independent of
each other. Thus any allele of one gene is equally likely to combine with any allele of the other
gene and pass into the same gamete. Independent segregation of two genes produces four
different types of gametes in equal proportion.
Eg. Yellow Round x Green Wrinkled

F1 : Yellow round
F2: Phenotypic ratio: 9 YellowRound : 3 YellowWrinkled : 3 GreenRound : 1 GreenWrinkled
Exceptions or deviations of Mendels concept
Incomplete dominance, Codomiance, Multiple alleles, Linkage, Lethal genes, Gene
interactions, pleiotropic gene effect, ploygenes, cytoplasmic and environmental effect.

Gene interactions
The phenomenon of two or more genes governing the development of a single
character in such a way that they affect the expression of each other in various ways.
Epistasis
A gene that affects the expression of another gene is called epistasis. Also called
intergenic or inter-allelic gene interaction.
Gene interactions F2 phenotypic ratio
Dominant epistasis/ Masking gene action 12:3:1
Recessive epistasis / Supplementary epistasis 9:3:4
Duplicate Dominant Epistasis/ Duplicate gene action 15:1
Duplicate Recessive Epistasis/ Complementary epistasis 9:7
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Inhibitory epistasis 13:3
Additive epistasis / Duplicate gene with cumulative effect 9:6:1

Linkage
 The tendency of two or more genes to remain together in the same chromosome durinf
inheritance is referred as linkage.
 Bateson and Punnet (1905) observed in sweet pea.
 T.H. Morgan (1910) – Drosophila and Hutchinson in maize
 The strength of linkage depends on the distance between the linked genes. Lesser the
distance higher the strength.
Types of linkage
1. Based on crossing over
i) Complete linkage: Linkage in which crossing over does not occur.
Eg. Drosophila male and female silk moth
ii) Incomplete linkage : Some frequency of crossing over also occurs between linked
genes. Eg. Maize, pea, Drosophila female
2. Based on Genes involved
i) Coupling Linkage : Linkage either between dominant or between recessive genes.
ii) Repulsion Linkage : Linkage of some dominant genes with some recessive genes.
Linkage groups
 Refers to group of genes which are present in one chromosome.
 The maximum number of linkage groups is equal to the haploid chromosome number
of an organism. In Maize, 10 linkage group, 7 in garden pea.
Crossing over
 It refers to the interchange of parts between non-sister chromatids of homologous
chromosome during meiotic prophase.
 Term crossing over was first used by Morgan and Cattell, 1912.
 The value of crossover or recombinants may vary from 0-50%
No. of recombinants
 Crossingover frequency (%) = x 100
Total Progeny
Sex linkage
Character for which genes are located on sex or X chromosome are known as sex
linked traits, such genes are called sex linked genes and linkage of such genes is referred as sex
linkage.
Eg. Sex linked characters in human – Colour blindness, Hemophilia

Genes linked with Y chromosome

Genes which are present in Y chromosome are known as holandric genes.
Eg. Presence of excessive hairs in man.

Sex limited traits

Characters which are expressed in one sex only. Eg. Breast development in women and
beard in man

Sex influenced characters

The dominance expression of some genes depends on sex of individual.
Eg. Baldness in humans

GENETIC CODE

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  There are two types of genetic nucleic acids viz., DNA (Deoxyribose nucleic acid) and
RNA (Ribose nucleic acid).
 The molecular model of DNA structure was proposed by Waston and Crick (1953).

Components of DNA
Phosphoric acid
It has three reactive (-OH) groups of which two are involved in forming sugar
phosphate backbone of DNA.
Pentose sugar
 The pentose present in RNA is called D-ribose.
 DNA contains 2’-deoxy D-ribose simply called Deoxyribose nucleic acid (Oxygen
atom present at second carbon of ribose is missing in deoxyribose).
Nitrogen bases
There are 4 different nitrogen bases in a DNA molecule, two purines and two pyrimidines.
 Purines: Adenine and Guanine are two ringed structure and larger than pyrimidines.
 Pyrimindines: Cytosine and Thyamine are one ringed structure.
 Adenine pairs thyamine with two hydrogen bonds
 Cytosine pairs guanine with three hydrogen bonds
Nucleosides
Oraganic base + Ribose/ Deoxyribose Nucleosides
Nucleotides
Organic base + Deoxyribose/Ribose + 5’ (or 3’) phosphate Deoxyribotide/ Ribotide
Comparison among different forms of DNAs
Characteristics A-DNA B-DNA C-DNA Z-DNA
Coiling Right handed Right handed Right handed Left- handled

Pitch Ca.28 Ao Ca.34 Ao Ca.31 Ao Ca.69Ao

Base pair per 11 10(10-10.6) 9.33 12

turn
Diameter 23Ao 19Ao 19 Ao 18Ao

Vertical rise per 2.56 Ao 3.38 Ao 3.32Ao 5.71 Ao

base pair

Sugar-phosphate Regular Regular Regular Zig-zag

backbone
DNA Replication
 Semi conservative Replication is universally accepted - Proposed by Waston and Crick
(1953)
 Experimental model of DNA replication was first conducted by Meselson and Stahl
(1958) in E.coli.
 DNA replication is catalysed by the enzyme – DNA polymerase
 The DNA replication in 3’ – 5’ direction is called leading strand (Continuous)
 DNA replication in 5’-3’ direction is called lagging strand (Discontinuous or Okazaki
fragments)
 DNA replication is bidirectional in prokaryotes and several eukaryotes like yeast,
Drosophila and man.
RNA
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 Frankel Conrat and Singer (1957) isolated RNA from TMV.
Types of RNA
Two types viz., Genetic RNA and Non-Genetic RNA.
Genetic RNA
RNA acts as genetic material. Eg. Plant viruses (TMV). It may be single or double
stranded.
Non-Genetic RNA
RNA does not act as genetic material. There are three types of RNA viz., mRNA, rRNA
& tRNA.

(i) Messenger RNA (mRNA)

RNA carries information from DNA to ribosomes for protein synthesis.
(ii) Ribosomal RNA (rRNA)
It helps in binding of mRNA and tRNA to ribososmes. This is found in cytoplasm.
(iii) Transfer RNA (tRNA)
It carries various types of amino acids and attach them to mRNA template for synthesis
of protein.

Genetic code
 Relationship between the sequence of bases in RNA and the sequence of amino acids in
a polypeptide chain.
 The triplet sequence of RNA bases which codes for a particular amino acid is called
codon. There are 64 codons, out of these 61 codes for aminoacids are called sense
codon.
 Three codons involved in stop signals viz., UAA, UGA and UAG – Non sense codons
 Start codon – AUG (Methionine – Eukaryotes; N- formyl methionine - Prokaryotes)
 The base sequence of tRNA which pair with codon of mRNA during translation –
Anticodon

Central Dogma of biology (Crick, 1958)

Transcription Translation
DNA RNA Protein

Transcription

RNA Polymerase
DNA mRNA

 During transcription, only one strand of DNA is transcribed – Template strand

 RNA produced is called sense RNA
 mRNA synthesis takes place in 5’-3’ direction
 Catalysed by RNA polymerase enzyme
 RNA synthesis takes place inside the nucleus and then it migrates to cytoplasm

Translation

mRNA Protein

 The process of protein synthesis from information in mRNA is called translation

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  This process requires mRNA, tRNA, ribososmes, aminoacids and tRNA
 It involves five major steps
(i) Activation of amino acids
(ii) Transfer of aminoacids to tRNA
(iii) Chain initiation
(iv) Chain elongation
(v) Chain termination

List of important models, theories and hypotheses

 Cell lineage theory – R. Virchow (1955)
 Cell theory – M.J. Schleiden and T.Schwann (1938-39)
 Double helix model of DNA- J. D. Watson and F.H.C. Crick (1953)
 First genetic map (Drosophilla) - A.H. Stutvent (1913)
 Geneic balance theory of sex determination- C.B. Bridges (1925)
 Germplasm theory - A.Weismann (1833)
 Hardy-Weinberg law- G.H. Hardy and W. Weinberg (1908)
 Inheritance of acquired characters- Lamarck (1809)
 Law of homologous series in variation or law of parallel variation in plants-
N.I.Vavilov (1926, 1951).
 Law of independent assortment- G.J. Mendel (1985)
 Mutation theory- Hugo de Vries (1901)
 One gene-one enzyme hypothesis- G.W. Beadle and E.L. Tatum(1941)
 One gene-one polypeptide hypothesis-V.M. Ingram (1957)
 Origin of species through natural selection- C. Darwin (1859)
 Multiple factor hypothesis – H. Nilsson – Ehle (1909)
 Rolling circle model of DNA replication- W. Gilbert and D. Dressler (1968)
 Semiconservative replication of chromosomes - J.H. Taylor (1957)
 Semiconservative replication of DNA - M. Messelson and F.W. Stahl (1963)
 Theory of organic evolution - C. Darwin
 Wobble hypothesis of codon-anticodon base paring - F.H.C. Crick (1966)

Sobriquets (nick-names)
 Drosophila of plant kingdom- Arabidosis thaliana
 Fairchild’s mule- Hybrid between Sweet William and Carnation
 Genetic bit- Nucleotide
 Jumping genes- Transposons
 Lamarckism- Theory of inheritance of acquired characters
 Man made cereal- Triticale
 Molecular glue- Ligase
 Molecular scissor- Restriction enzymes
 Natural genetic engineer- Agrobacterium
 People’s choice reaction- Polymerase chain reaction
 Queen of genetics – Drosophilla melanogaster
 Secret of life- DNA
 Power house of cell- Mitochondria
 Physical basis of life- Protoplasm
 Suicidal bag- Lysosome
 Teminisim – Reverse transcription

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