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BBT: 511 Genetics

Dr. Bipinraj

Why Study genetics?


Genetics has an important position in biology Genetics is central to numerous human interactions, such as behavior, character, diseases, evolution etc. It helps us to understand the pattern of inheritance of many diseases It helps us to control many infections

Significance of Genetics in Evolution and Breeding


Genetics : Study of heredity and variation (Classical genetics) : Study of gene and gene interaction (Molecular genetics) : Study of evolution (Evolutionary genetics) Genetics helps us to understand heredity , variation and speciation thus mechanism of evolution. Breeding is the application of genetic principles of to get better variety

Evolution: Is the genetic changes in successive generations. Evolution give rise to diversity and causes speciation Evolution occurs when there is a variation in the allelic frequency in the population Variation in allelic frequency can happen due to natural selection, genetic drift and mutation.

Industrial Melanism

Applications of Evolution:
Artificial selection or selective breeding to get desired variety Medicine to control genetic disorder

Plant breeding: Artificial breeding and selecting procedure to


Increase quality and yield Increase resistance against
Draught, salinity, temperature Virus, fungus and bacteria

Increase tolerance against pesticide and herbicide

Classical breeding : relies on homologous recombination chromosomes to introduce desired variety Modern breeding : use molecular techniques to select or introduce desired traits

Steps involved are


Creation of variation, Selection and Evaluation
controlled pollination, genetic engineering Marker assisted selection

Release Multiplication Distribution of the new variety

CHROMOSOME

Mendel Proposed Mechanisms of Heredity Walther Flemming Describes Chromosomes Theodor Boveri Links Chromosomes and Heredity (study on round worm) Walter Sutton Finds Evidence for Mendel's Principles, chromosome separates during gametes formation (study on grasshopper) Thomas Hunt Morgan Experimentally Demonstrates Chromosome Theory (red and white eye fly).

Chromosome is the orderly arrangement of DNA. In eukaryote, DNA double helix is bound to an octamer protein (HISTONE) to form a beadlike structure called as (NUCLEOSOME ) Nucleosomes are connected by linker DNA strand Nucleosomes are further coiled to form solenoid tubes

Solinoid tube

Solinoid tubes now spirally arranged on a nonhistone protein scaffold and this scaffold further coils to form condensed chromosome. On condensed chromatin the region at which spindle fiber attaches is called as centromere On chromosome arm there are more condensed region called heterochomatin and less condensed region called as euchromatin

Cetromere Arms
p (shorter) q (longer)

Telomere

Types of Chromosomes
based on centromere
Telocentric : cetromere at the end Acrocentric : centromere at off center Metacentric : Centromere in the middle Holocentric : Whole chromosome act as centromere

Sex chromosome Autosomes

Chromosome staining
Staining: Used for visualizing the chromosomes
aceto-orcein, acetocarmine, gentian violet, haematoxylin etc. Giemsa, Wright and Leishman

Applications:
Chromosome analysis
Number Morphology Length Position of centromere etc.

To study chromosome breakage

Giemsa staining:
It is made up of methylene blue, eosin, and Azure B.

Specifically binds the phosphate groups of DNA, and attaches itself to regions of DNA where there are high amounts of adenine-thymine bonding.

Procedure
Place slides in a staining dish. Stain for 7 minutes. Rinse slides in two changes of distilled water. Air dry slides; mount them with a cover slip if desired.

Chromosome banding:
Differential intensity pattern along the length of chromosome when stained are called as chromosome banding. This difference is due to the differences in the base component of DNA Based on the stain used, chromosome produce different banding pattern

Uses of banding
Chromosome identification Identifying abnormalities of chromosome number Identifying translocations Identifying deletions, inversions or amplifications Comparisons of chromosome banding patterns can confirm evolutionary relationships between species

Standard banding methods


Q-Banding: pattern created by treating fluorochrome quinacrine. Forms dark bands at AT rich regions (heterochomatid) producing G-Banding: pattern created by treating Giemsa stain. Forms dark bands at AT rich regions (heterochomatid) producing R-Banding : Reverse banding, produced by staining GC rich region by dyes such as chromomycin A3, olivomycin and mithramycin. C-Banding : Banding of non-coding constitutive heterochomotin by Giemsa staining. C-Banding is produced by treatment of chromatin with acidic and then basic solutions followed by staining with Giemsa. NOR-banding: Involves silver staining (silver nitrate solution) of the "nucleolar organizing region", which contains rRNA genes. T-Banding: Involves the staining of telomeric regions of chromosomes using either Giemsa or acridine orange after controlled thermal denaturation. T bands apparently represent a subset of the R bands because they are smaller that the corresponding R bands and are more strictly telomeric.

High resolution banding


To produce more detailed analysis of chromosome
Hy-banding can be produced for entire chromosome or a specific region

Methods:
Banding prophase or early metaphase chromosome By decreasing the degree of condensation by treating with chemicals such as Ethidium bromide, acridine orange and actinomycin D etc.

Fluorescence In Situ Hybridization: it is a technique used to detect the presence or absence of a specific DNA sequence or a gene in an organism.

FISH

Applications of FISH
FISH to Identify the Positions of Genes
for identifying the location of a cloned DNA sequence on metaphase chromosomes.

Diagnosing Chromosomal Abnormalities to Paint Entire Chromosomes Analyze Interphase Chromosomes

Karyotyping
Karyotyping is the process of pairing and ordering all the chromosomes of an organism, thus providing a genome-wide snapshot of an individual's chromosomes. Karyotypes are prepared using standardized staining procedures that reveal characteristic structural features for each chromosome. Applications:
To detect gross genetic changesanomalies involving several megabases or more of DNA. Karyotypes can reveal changes in chromosome number Careful analysis of karyotypes can also reveal more subtle structural changes, such as chromosomal deletion, duplications, translocations, or inversions. Karyotypes are becoming a source of diagnostic information for specific birth defects, genetic disorders, and even cancers.

Blood is drawn and coagulation prevented by addition of heparin. Mononuclear cells (lymphocytes and monocytes) are purified by density gradient centrifugation Mononuclear cells are cultured for 3-4 days in a medium containing a mitogen such as phytohemagglutinin. (Phytohemagglutinin stimulates lymphocytes to
proliferate.)

After the culture period when a large population of dividing cells is present, colcemid is added. (Colcemid disrupts the mitotic spindles and prevents completion of mitosis, thereby
assembling cells arrested in metaphase.)

Lymphocytes are harvested and treated briefly with a hypotonic solution. The hyportonic solution causes the nuclei to swell through osmosis facilitating the spreading of the chromosomes of the metaphase preparation. The swollen cells are fixed, dropped onto a microscope slide and dried. Slides are stained. Stained slides are scanned and good preparations are then photographed. Karyograms are prepared from developed photos. Chromosomes are cut out and arranged and pasted orderly (from large to small in their different groups) on a prepared form.

Karyogram of down syndrome male

Karyogram of Philadelphia chromosome

Nomenclature:
Standard nomenclature of chromosome is done by the size of the chromosome, So in human, all non-sex chromosome arranged according to the size, and 22nd, the sex chromosome arranged at the end. They are again sub divided into 7 groups (A-G) based on the size and position of centromere.

Group Group A Group B Group C Group D

Chromoso me no. 1-3 4-5 6-12 13-15

Size and position of centromere Largest , Median centromere Large, Submedian centromere Medium, Submedian centromere Medium, Acrocentric centromere

Group E
Group F

16-18
19-20

Group G

21-22

Short, Median or submedian centromere Short, Median centromere Very short, Acrocentric centromere

In 1881 a French embryologist E G Balbiani observed chromosome as a cylindrical cord that repeatedly unraveled and filled the Nucleus of larval salivary glands, Malpighian tubules, intestine, hypoderm and muscles a midge. He called this structure a permanent spireme. In 19331934, three groups of researchers (Painter, 1933; Heitz and Bauer, 1933; King and Beams, 1934), using squashed preparations, showed that the spireme is not continuous but consists of separate elements whose number is close to the haploid number of the mitotic chromosomes. Each element is formed as a result of the tight synapsis (joining together) of homologous chromosomes, Painter, 1933 Many scientists studied this structure and later it was termed as Polytene chromosome.

Peculiarities of Polyteny
The formation of polytene chromosomes is associated with the elimination of the entire mechanism of mitosis after DNA synthesis as a result of which the cell cycle consists of just two periods, synthetic (S) and intersynthetic (G). at the end of each replication period,DNAstrands do not segregate; rather, they remain paired to each other to different degrees The polytene chromosomes formed are incapable of being involved in mitosis. the nuclear membrane and nucleolus remain intact during consecutive DNA replication cycles

Polyteny arises and attains high levels in tissues, organs and at developmental stages when there is need for the rapid development of an organ at an unaltered high level of function.

Polytene chromosomes develop from the chromosomes of diploid nuclei by successive duplication of each chromatid. Based on the conjugation of homologous chromosomes there are three types of polyteny
classic polytene chromosomes cryptic polyteny pompon-like chromosome

Morphology of Polytene Chromosomes

In polyteney nonhomologous chromosomes are joined by their centromeric regions to form a common chromocentre Banding pattern of polytene chromosmes are unique for a species A series of swollen regions were also seen on the light banded regions called as Puffs. Polyteny is found in a wide range of organisms, appearing at many stages of evolution

The experimental plants must necessarily:


Possess constant differentiating characteristics The hybrids of such plants must, during the flowering period, be protected from the influence of all foreign pollen, or be easily capable of such protection. The hybrids and their offspring should suffer no marked disturbance in their fertility in the successive generations.

Leguminosae has been selected on account of their peculiar floral structure.

Distinct characters which are constant, and easily and certainly recognizable, and when their hybrids are mutually crossed they yield perfectly fertile progeny. Disturbance through foreign pollen cannot easily occur, since the fertilizing organs are closely packed inside the keel and the anthers burst within the bud, so that the stigma becomes covered with pollen even before the flower opens. easy culture of these plants in the open ground and in pots, and also their relatively short period of growth Artificial fertilization was possible by opening the bud before it is perfectly developed, the keel is removed, and each stamen carefully extracted by means of forceps, after which the stigma can at once be dusted over with the foreign pollen

Characters selected
1. The difference in the form of the ripe seeds
Round and wrinkle Either pale yellow, bright yellow and orange colored, or it possesses a more or less intense green tint.

2. Difference in the color of the seed albumen 3. Difference in the color of the seedcoat

White and violet


Inflated or contricted

4. Difference in the form of the ripe pods. 5. difference in the color of the unripe pods

Green or yellow
Terminal or axial Tall 6 -7 ft or short ft. - 1 ft.

6. Differencein the position of the flowers 7. Difference in the length of the stem

Multiple allele
M is a multiple allelic gene, having four allele (M, M1, M2 & M3). How many alleles would be present in an individual with heterozygous genotype? How many alleles would be present in an individual with homozygous genotype?

C+C+, C+cch, Cch, Cc

cchcch,

chch, chc

Cc

However a new phenotype (Light Gray) emerged during the cross of chincilla with Himalayan or albino cchc , cchch

Feather pattern in duck


M,produces the wild-type mallard pattern. MR , produces pattern called restricted md , produces a pattern termed dusky. In this allelic series, restricted is dominant over mallard and dusky, and mallard is dominant over dusky: MR < M < md .

Heredity
Genetics is based on hereditary variation
Continuous variation Discontinuous variation

Inheritance
Autosomal inheritance Sex-linked inheritance Cytoplasmic inheritance

Autosomal dominant inheritance :

Patterns of inheritance

One mutated copy of the gene in each cell is sufficient for a person to be affected by an autosomal dominant disorder.

Eg: Huntington disease


Progressive brain disorder that causes uncontrolled movements, emotional problems, and loss of thinking ability Mutation in HTT gene : important in neuron function CAG repeats 10 35 in normal 36 120 in abnormal

Autosomal recessive
Two mutated copies of the gene are present in each cell when a person has an autosomal recessive disorder. Eg: Cystic fibrosis
Inherited disease of the mucus glands include progressive damage to the respiratory system and chronic digestive system problems Mutations in CFTR gene Impaired function of the chloride channels, preventing them from regulating the flow of chloride ions and water across cell membranes

X-linked dominant
Caused by dominant mutations in genes on the X chromosome Eg: Fragile X syndrome
This disease is the most common form of inherited mental retardation It is manifested cytologically by a fragile site in the X chromosome that results in breaks in vitro

X-linked recessive
Caused by recessive mutations in genes on the X chromosome Eg: Hemophilia
Due to the absence or malformation of factor VIII

In codominant inheritance, two different versions (alleles) of a gene can be expressed, and each version makes a slightly different protein. Both alleles influence the genetic trait or determine the characteristics of the genetic condition.

Codominant

Eg: ABO blood group

Mitochondrial

Eg: Optic neuropathy

GENE INTERACTION
Influence of two or more non-allelic pairs of gene over a character
Epistasis

Epistasis:
One gene override the expression of other gene
Expressed gene is called as epistatic Overridden gene is called as hypostatic Dominant Recessive Complementary Duplicate

9 C_P_ : 3 C_pp :3 ccP_ : 1 ccpp purple white

Complementary gene action

Epistatic Gene Interaction

Enzyme C and enzyme P cooperate to make a product, therefore they complement one another
Enzyme C Enzyme P

Colorless precursor

Colorless intermediate

Purple pigment

Colorless precursor

Enzyme C

Colorless intermediate

Enzyme P

Purple pigment

genotype cc

Colorless precursor

Enzyme C

Colorless intermediate

Enzyme P

Purple pigment

genotype pp

Recessive Epistasis
Epistasis due to recessive genes is called recessive epistasis

White coat produced by a recessive gene aa Gene B dominant state produces grey coat colour called agouti, and when recessive (bb) leads to black coat colour. The recessive gene for albinism (aa) is found to be epistatic to the gene for agouti (BB and Bb), and also to its recessive, homozygous allele (bb) for black.

Duplicate gene When two or more genes have the same effect on a given trait, they are referred to as duplicate genes Yellow endosperm is dominant over white Two genes control the expression, yellow When both are in recessive condition it will produce white endosperm.

Cytoplasmic Inheritance
Uniparental inheritance: progeny inherit organelle genes exclusively from one parent. Maternal inheritance. Reason? Heteroplasmons : Normal as well as mutated organelle is present in the same zygote Cytoplasmic segregation : segregation of wild and mutated organelle to different daughter cells are called as cytoplamic segregation.

Linkage

Variation
Discontinuous Continuous

Nilsson-Ehle Experiment
deep red white

Deep Red 1

dark red 6

red 15

medium red 20

light red 15

very light red 6

white 1

Variation
Discontinuous
Individuals can be grouped in distinct class Controlled by one or few genes Not affected by environmental factors
Eg. Blood groups

Continuous
Difficult to group in distinct group Controlled by many genes Mostly affected by environment When plotted as a histogram, these data show a typical bellshaped normal distribution curve, with the mean, mode and median all being the same.
Eg. Height, colour,

Nilsson-Ehle's experiment on wheat kernel color

Changes in genetic material


Variation Chromosomal aberrations Mutation

Structural

Numerical

Numerical Aberration
Euploidy : Addition or removal of a complete set of chromosome Aneuploidy : Addition or removal of individual chromosome

Euploidy: In euploidy an organism acquires an additional set of chromosomes over and above the diploid complement Triploid (3n), tetraploid (4n); pentaploid (5n), and hexaploid (6n)
Autopolyploids : If source of extra chromosome are same species Allopolyploids : If source of extra chromosome are Different species

Autotriploid : Mostly sterile Eg. seedless watermelons, European pears and apples. Once formed, the triploid plants are healthy and robust and are propagated through asexual cuttings

Autotetraploids; either fertile or only partially sterile Eg. Groundnut, potatoes and coffee

Allopolyploidy Eg. The hybrid produced between radish and cabbage

hexaploid Triticum (2n + 44) X diploid Secale (2n = 14) to produce : Octaploid Triticale

Polyploidy in agriculture:
Wheat : Einkorn, Emmer and Vulgare Einkorn (diploid 2n = 14). Not used for consumption Emmer (Tetraploid). Hybrid of Einkorn and Goat grass.
T. durum, T. dicoccum

Vulgare (Hexaploid) T. aestivum (bread wheat) (AABBDD; 2n = 42) Originated through hybridisation between T. dicoccum (AABB) and a different species of goat grass followed by chromosome doubling

Aneuploidy
2n+1 : Trisomy 2n+2 : Tetrasomy 2n- 1 : Monosomy 2n-2 : Nullisomy

Klinefelter syndrome XXY (Sterile male with low IQ), XYY Normal male Triplo-X trisomics (XXX) are phenotypically normal and fertile females Down syndrome 21st trisomy Edward syndrome 18th trisomy Pataus syndrome 13th trisomy Turner Syndrome XO (sterile female)

Cause of Aneuploidy?
Mitotic or meiotic Non-disjunction

Structural aberrations
DELETION : Deletion of a small portion of a chromosome resulting in loss of one or more genes. It originates from breakage occurring at random in both chromatids of a chromosome (called chromosome break), or only in one chromatid (chromatid break).
Terminal : Single break at the end of the chromosome Interstitial : Two breaks occur in a middle portion of the chromosome. Multigenic deletion : several genes are mission due to deletion. More lethal than Interstitial

Restitution: If the two raw ends of the same chromosome unite and restore the structure Exchange union: if two single breaks occur in two different chromosomes in a cell, the deleted segment of one chromosome may unite with the raw broken end on the other chromosome; this is called exchange union

Fate of the deleted segment:

Deletion loop: Pseudodominance :

Eg: Cri du chat


heterozygous deletion of 5p15.2 and 5p15.3, of chromosome 5.

Williams syndrome.
An autosomal dominant syndrome characterized by unusual development of the nervous system and certain external features. Frequency 1 in 10,000 people. Patients often have pronounced musical or singing ability. Caused by a 1.5 Mb deletion on one homolog of chromosome 7.

Duplications
A chromosome duplication is a mutation in which part of the chromosome has been doubled
Tandem Reverse tandom Displacement duplication
Displaced on same arm Displaced on different arm

Origin: Unequal crossing over

Eg: Bar eye mutant in Drosophila


The Bar mutant results from a small duplication on the X chromosome, which is inherited as an incompletely dominant, X-linked trait
779

358

68

45

Inversion
Inversions result when there are two breaks in a chromosome and the detached segment becomes reinserted in the reversed order
Paracentric: both breaks occur in one arm of the chromosome it leads to a paracentric inversion Pericentric : when a break occurs in each of the two arms, the centromere is included in the detached segment and leads to a pericentric inversion

Translocations
A translocation entails the movement of genetic material between nonhomologous chromosomes Nonreciprocal translocations: genetic material moves from one chromosome to another without any reciprocal exchange Reciprocal translocation : A two-way exchange of segments between the chromosomes

Effect of Phenotype: May create new linkage relations that affect gene expression (a position effect) Chromosomal break can disrupt gene function
Eg. Neurofibromatosis

Robertsonian translocation

Mutation
A mutation is defined as an inherited change in genetic information
Mutation is the source of all genetic variation Mutation is the cause of evolution Mutation helps organisms to survive in a particular conditions Mutation can be the reason for disease and disorder Mutations serve as important tools of genetic analysis Mutations are also useful for probing fundamental biological processes

Types of Mutations
Somatic mutations Germ-line mutations

Mutation can be spontaneous or induced Point mutations


Alterations of single base pairs of DNA or of a small number of adjacent base

Types:
Base substitutions : Alternation of a single nucleotide in the DNA Insertions and deletions (Indel): The addition or the removal, respectively, of one or more nucleotide pairs

Base substitution: Transition or Transversion

Indel Mutations:

Expanding trinucleotide repeats:


Fragile X syndrome; the most common hereditary cause of mental retardation The FMR 1 gene mutation) has 60 or fewer copies of this trinucleotide CGG, but in persons with fragile-X syndrome, the allele may harbor hundreds or even thousands of copies

Forward mutation: A mutation that alters the wild-type phenotype, Reverse mutation : A reversion that changes a mutant phenotype back into the wild type.

Suppressor mutations:
Is a genetic change that hides or suppresses the effect of an other mutation A suppressor mutation occurs at a site that is distinct from the site of the original mutation; thus, an individual organism with a suppressor mutation is a double mutant, possessing both the original mutation and the suppressor mutation but exhibiting the phenotype of an unmutated wild type

Intragenic suppression Mutation: happens on the same gene but different nucleotide or codon
Intergenic suppression Mutation: Happens on different gene

Lethal Mutation: mutation that causes death of the organism


Recessive lethal Dominant lethal Semi lethal
Hemophilia

http://www.nature.com/scitable/topicpage /mendelian-ratios-and-lethal-genes-557

Mechanism of point mutation: Base replacement


Tautomerization due to ionization Normal keto form change to imino or enol form

Base analogues
The mutagen 5-bromouracil (5-BU) is an analogue of thymine and binds to adenine under normal conditions 5-BU frequently change to either the enol form or an ionized form that can bind to guanine

Mechanism of point mutation: Base alteration Some mutagens causes specific mispairing by adding alkylating agents ;
eg Ethylmethanesulfonate (EMS) Adds ethyl group Nitrosoguanidine (NG) adds methyl group

Transposable Elements
Transposable elements are mobile DNA sequences that insert into many locations within a genome and often cause mutations and DNA rearrangements.
They make up at least 50% of human DNA

Transposition is the movement of a transposable element from one location to another. Short, flanking direct repeats of 3 to 12 base pairs are present on both sides of most transposable elements

Structure
In bacteria:
Insertion sequences (IS): Simple transposable elements Size 700 to 2000bp Contains one or two genes that code for transposase Flanking direct repeats

Trasposones (Tn):
Larger than IS May carry genes other than transposase between the inverted sequences Some are with Tra gene helps in transfer to other bacteria during conjugation (conjugative transposons)

Integrones:
Integrones are transposons that can capture and express genes from other sources They are highly selective in insertion It contains , integrase, transposase, a gene cassette

Eukaryotic TE
Ty elements in yeast
These elements are retrotransposons

Ac element in maize
Ac elements are about 4500 bp long, including terminal inverted repeats of 11 bp, and the flanking direct repeats that they generate are 8 bp in length Each Ac element contains a single gene that encodes a transposase enzyme

Ds element in maize
Ds elements are Ac elements with one or more deletions that have inactivated the transposase gene Ds elements can transpose in the presence of Ac elements

Mechanism of trasposition
Conservative:

Replicative:

Transposition through an RNA intermediate (Retrotransposition)

SEX DETERMINATION
The mechanism by which sex is established is termed sex determination
Chromosomal Sex-Determining Systems Environmental Sex Determination Other mechanisms

Chromosomal Sex-Determining Systems

XX/XY sex-determination system


Most familiar, as it is found in humans. Females have two of the same kind of sex chromosome (XX, Homogametic) Males have two distinct sex chromosomes (XY, heterogametic). Y chromosome carries factors responsible for triggering male development

XX-XO sex determination


In the grasshoppers In this system, females have two X chromosomes (XX), Males possess a single X chromosome (XO). O means no chromosome

ZZ-ZW sex determination


W chromosome carries factors responsible for female development Male are homogametic (ZZ) Female are heterogametic (ZW) Eg Birds

Environmental Sex Determination

Marine mollusk Crepidula fornicata (slipper snail )

This type of sexual development is called sequential hermaphroditism; each individual animal can be both male and female, although not at the same time. In Crepidula fornicata, sex is determined environmentally by the limpets position in the stack.

Red-eared slider turtle

American alligator

Alligator snapping turtle

Other mechanisms
Other insects, including honey bees and ants, use a haplodiploid sex-determination system. In this case diploid individuals are generally female, and haploid individuals (which develop from unfertilized eggs) are male. This sex-determination system results in highly biased sex ratios, as the sex of offspring is determined by fertilization rather than the assortment of chromosomes during meiosis

Sex determination in Drosophila


Total 8 chromosomes
3 pairs of autosomes 1 pair of sex chromosome 6A XX in Female and 6A XY in Male.

Here presence of the Y chromosome does not determine maleness in Drosophila; Flys sex is determined by a balance between genes on the autosomes and genes on the X chromosome. This type of sex determination is called the genic balance system.

Here number of genes seem to influence sexual development. The X chromosome contains genes with female producing effects, whereas the autosomes contain genes with male-producing effects. Consequently, a flys sex is determined by the X:A ratio, the number of X chromosomes divided by the number of haploid sets of autosomal chromosomes. An X:A ratio of 1.0 produces a female fly; an X:A ratio of 0.5 produces a male.

Dosage Compensation
In XX/XY system, female has two X chromosome and male has one X. As a result X will over express causes problem in development. In animals there are different mechanism to reduce the effect of extra X chromosome, and are called as dosage compensation. By dosage compensation animals equalizes the amount of protein produced by X-linked genes in the two sexes.

Dosage compensation in Humans


Lyon hypothesis (Mary Lyon, 1961): within each female cell, one of the two X chromosomes randomly becomes inactive; If a cell contains more than two X chromosomes, all but one of them is inactivated by methylation. X inactive-specific transcript or XIST gene is active in future inactivated X (Xi).

Sex linked inheritance

X-Linked Color Blindness in Humans


Ability to detect colour lies in cone cells Each cone cell contains one of three pigments capable of absorbing light of a particular wavelength; one absorbs blue light, a second absorbs red light, and a third absorbs green light Each of the three pigments is encoded by a separate locus; the locus for the blue pigment is found on chromosome 7, and those for green and red pigments lie close together on the X chromosome

Z-Linked Characteristics
in Indian blue peafowl, wild-type plumage is a glossy, metallic blue (ZCa+) Cameo plumage, which produces brown feathers, results from a Z-linked allele (Zca) that is recessive to the wild-type blue allele (ZCa+).

Morgan and his students observed that some pairs of genes did not segregate randomly according to Mendels principle of independent assortment but instead tended to be inherited together Morgan suggested that possibly the genes were located on the same chromosome and thus travelled together during meiosis.

Population Genetics
Population genetics is concerned with the genetic composition or allele frequency distribution of a population and how it changes with time under the influence of several factors

The genetic composition of a population is the collection of frequencies of different genotypes in the population. These frequencies are the consequence of processes that act at the level of individual organisms to increase or decrease the number of organisms of each genotype.

Population genetics is both an experimental and a theoretical science On the experimental side, it provides descriptions of the actual patterns of genetic variation among individuals in populations and estimates the rates of the processes On the theoretical side, it makes predictions of how the genetic composition of populations can be expected to change as a consequence of the various forces operating on them

Variation and its modulation


Observations of variation Protein polymorphisms
IMMUNOLOGIC POLYMORPHISM AMINO ACID SEQUENCE POLYMORPHISM DNA structure and sequence polymorphism CHROMOSOMAL POLYMORPHISM RESTRICTION-SITE VARIATION TANDEM REPEATS COMPLETE SEQUENCE VARIATION

Genetic equilibrium
The frequencies of alleles will remain constant in the absence of selection, mutation, migration and genetic drift.

mating patterns : random, inbreeding or assortive mating Migration Mutation Recombination natural selection

Variation in the allelic frequency due to mutation


The rate of change in gene frequency from the mutation process is very low because spontaneous mutation rates are low The mutation rate is defined as the probability that a copy of an allele changes to some other allelic form in one generation. is mutation rate P s frequency of wild allele Pt is frequency of wild allele after t time

Variation due to recombination


Recombinations brings new gene combinations
AB and ab Ab and aB

The creation of genetic variation by recombination can be a much faster process than its creation by mutation. Since recombination is a random process it brings out an equilibrium between the allele on the same chromosome called as linkage equilibrium

Variation due to migration


Migration causes changes in the allelic frequency of a population by introducing alleles from other populations The magnitude of change due to migration depends on both the extent of migration and the difference in allelic frequencies between the source and the recipient populations Migration decreases genetic differences between populations and increases genetic variation within populations.

Selection
Selection is the differential rates of survival and reproduction of an allele Selection alters the frequencies of the various genotypes in the population Selection depends on the reproductive fitness of an allele Fitness is a consequence of the relation between the phenotype of the organism and the environment in which the organism lives As a result of selection, the allele with the higher mean fitness relative to the mean fitnesses of other alleles increases in frequency in the population.

Random events
Genetic drift If a population consists of a finite number of individuals (as all real populations do) and if a given pair of parents has only a small number of offspring, then even in the absence of all selective forces, the frequency of a gene will not be the same in the next generation. Just by chance, the composition of this sample may deviate from that of the parental gene pool, and this deviation may cause allelic frequencies to change

Evolution
Evolution is the change in the inherited characteristics of biological populations over successive generations. Theory of evolution by natural selection, which was formulated by Charles Darwin.
Population growth would lead to a "struggle for existence" where favourable variations could prevail as others perished. It is based three simple facts:
1. Heritable variation exists within populations of organisms. 2. Organisms produce more progeny than can survive. 3. These offspring vary in their ability to survive and reproduce

However, he could not explain origin of variation and how it is transmitted to next generation He tried to explain heritability by Pangenesis Inheritance of tiny heredity particles he called gemmules that could be transmitted from parent to offspring

Modern evolutionary synthesis


It is a union of ideas from several biological specialties which provides a widely accepted account of evolution
All evolutionary phenomena can be explained with known genetic mechanisms and the observational evidence of naturalists. the genetic diversity existing in natural populations is a key factor in evolution Evolution is gradual: small genetic changes regulated by natural selection accumulate over long periods. Natural selection is by far the main mechanism of change; even slight advantages are important when continued. The object of selection is the phenotype in its surrounding environment.

Genome evolution or molecular evolution Microevolution : Changes in allele frequencies that occur over time within a population Macroevolution : Evolution on a scale of separated gene pools. Macroevolutionary studies focus on change that occurs at or above the level of species.

How evolution leads to speciation?


Mutation leads to variation Recombination leads to formation of new combination New combination leads to adaptation Adaptation leads to selection Selection leads to evolution High level of adaptation in a specific environment leads to reproductive isolation and speciation.

Speciation
A group of organisms that exchanges genes within the group but cannot do so with other groups is what is meant by a species All the species now existing are related to each other, having had a common ancestor at some time in the evolutionary past. Then how did they separate?

Allopatric speciation, A population splits into two geographically isolated populations by habitat fragmentation or migration The isolated populations then undergo genotypic and/or phenotypic divergence as:
(a) They become subjected to dissimilar selective pressures; (b) They independently undergo genetic drift (c) Different mutations arise in the two populations.

Peripatric speciation In peripatric speciation a small population moves away from parent population and undergoes high level of inbreeding and became distinct from the parental population

Parapatric speciation:
There is only partial separation of the zones of two diverging populations afforded by geography; individuals of each species may come in contact or cross habitats from time to time, but reduced fitness of the heterozygote leads to selection for behaviours or mechanisms that prevent their inter-breeding.

Sympatric speciation
It refers to the formation of two or more descendant species from a single ancestral species all occupying the same geographic location.

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