GENETICS AND EVOLUTION

NEETA SEHGAL University of Delhi

 Principles of Inheritance & Variation Molecular Basis of Inheritance

Genetics Inheritance
Characters are passed on from parent to progeny.

Variation
Differences in progeny from their parents.

Genetic Material
Contracted chromosome during cell division

Homologous Chromosomes

Autosomes (22 pairs):

genes for body characteristics. genes for sexual traits.

Sex chromosomes (1 pair):

GREGOR MENDEL

Father of Modern Genetics

What is so special about Pea Plant ?

Selective cross-breeding of common pea plants (Pisum sativum). Can be grown easily in large numbers. Male and female reproductive organs. Reproduction can be manipulated. Self-pollination or cross-pollination. Mendel was able to selectively crosspollinate purebred. Easily recognized seven traits that occur in one of two forms.

CONTRASTING TRAITS STUDIED BY MENDEL

No intermediate forms of these traits in offspring plants. Particular traits can be observed over many generations (Pure strain)

Some Basic Terminology

Generations:
P: Parental generation F1: 1st filial generation, progeny of the P generation F2: 2nd filial generation, progeny of the F1 generation (F3 and so on)

Crosses:
Monohybrid cross: Cross of two different true-breeding strains (homozygous) that differ in a single trait. Dihybrid cross: Cross of two different true-breeding strains (homozygous) that differ in two traits. Testcross: Cross between hetrozygous organism (Aa) and organism homozygous for recessive allele (aa) Back cross: Hybrid organism is bred with one of the parental genotypes

Allele:

Alternative gene for the same trait Genetics etiquette: Female conventionally is written first

Mendel s Principles/ Laws

 Principle of Dominance  Principle of Segregation  Principle of Independent Assortment

Principle of Dominance
 Inheritance of One Gene (Monohybrid Cross)  Parents with pure contrasting characters  F1 Generation

Offspring resembles only one of the parents.

Why smooth seeds are dominant to wrinkled seeds ?

Smooth seeds are completely dominant over wrinkled seeds.

Yellow seed colour Green pod colour Tall plant

Green seed colour Yellow pod colour Dwarf plant

Principle of Segregation
 Inheritance of One Gene (Monohybrid Cross)  Self pollination in F1 generation  F2 Generation

Offspring resemble one of the parents and show dominant character. Reappearance of other parental character.

F2 generation consistently shows 3:1 ratio of yellow to green

Dominant: Recessive:: 3:1

Pure dominant

Pure recessive

Conclusions
Genes are passed on to descendants unchanged An individual inherits one gene from each parent for each trait A trait not shown in an individual can still be passed on to the next generation.

Genotype
Activities of genes & gene products

Phenotype
Genotype: Phenotype: Phenotype Collection of genes (and alleles) in an organism Observable properties of an organism

Phenotype

One form appeared dominant over the other. One allele is masked. Genotype for yellow seed color is YG (heterozygous), the phenotype is yellow.

Genotype

The dominant yellow allele does not alter the recessive green one Both alleles are passed on to the next generation unchanged.

Principle of Independent Assortment

 Inheritance of Two Genes (Dihybrid Cross)  Self pollination in F1 generation  F2 Generation

F2 Genotypes
GGYY GGYy GgYY GgYy GGyy Ggyy ggYY ggYy ggyy 1/16 2/16 2/16 4/16 1/16 2/16 1/16 2/16 1/16

F2 Phenotypes
Green pod, Yellow seeds (9)

Green pod, Green seeds (3) Yellow pod, Yellow seeds (3) Yellow pod, Green seeds (1)

9:3:3:1
Green pods & yellow seeds Green pods & green seeds Yellow pods & yellow seeds Yellow pod & green seeds.

Graphical representation of Genotype

Punnett square. English geneticist, Reginald Punnett. Graphical representation of all of the potential combinations of genotypes that can occur in offspring, given the genotypes of their parents.

Crosses can be represented with branching diagrams.

Summary of Mendel s Principles

 Principle of Dominance: Dominance:
F1 offspring of a monohybrid cross of true-breeding strains resemble only one of the parents.

 Principle of Segregation:
Recessive characters masked in the F1 progeny of two true-breeding strains, reappear in a specific proportion of the F2 progeny. Two members of a gene pair segregate (separate) from each other during the formation of gametes. Inheritance is particulate, not blending.

 Principle of Independent Assortment:

Alleles for different traits assort independently of one another. Genes on different chromosomes behave independently in gamete production.

Modern Genetics
Mendel did not realize that there are exceptions to these rules. Fruit flies and bacteria are commonly used by Geneticists now Fruit flies reproduce in about 2 weeks from birth. Bacteria, E. coli, reproduce in only 3-5 hours. These species reproduce rapidly Amount of time and money required is significantly reduced.

Non-Mendelian inheritance patterns

Exceptions to Simple Inheritance Intermediate expression/ Incomplete dominance
Polygenic Traits: Traits are determined by the combined effect of more than one pair of genes. Apparent blending can occur in the phenotype Incomplete dominance Intermediate expression of a trait in heterozygous individuals.

Codominance
Two alleles can be codominant and expressed in heterozygous individuals. an AB blood type for the ABO blood system. Phenotype is not intermediate between the two.

Multiple-allele Series
The ABO blood type system is controlled by three alleles (A, B, and O) Each individual inherits two of them (one from each parent). Multiple allele are more common than simple two allele ones.

Chromosomes

Sex Chromosomes

Sex Chromosomes.

Why Male?

presence or the absence of a specific gene on the Y chromosome known as the SRY (sex-determining region Y) gene. Y chromosome ---> SRY gene (transcription factor)---> gonads become testes--->testosterone---> binds androgen receptor---->male character to tissues The X and Y chromosomes share a few genes. The X and Y chromosomes are hemizygous, or only partially homologous. The X chromosome is much larger and has many more genes not related to sexual characteristics. Sex-linked genes exhibit unique patterns of inheritance

Sex Determination The X-Y System

Humans and most other mammals
Male XY and Female XX Males pass on either the X or the Y chromosome that determines the sex

The X-0 System Drosophila

Male XY and Female XX Ratio of X chromosomes / set of autosomes 2X:2 sets of autosome=1 (female) 1X:2 sets of autosome=0.5 (male)
6 6

The Z-W System Birds

Male ZZ and Female ZW Females pass on a Z or a W that determines the gender

The Haploid-Diploid System Honey Bee

Female diploid and Male haploid

No Chromosome System Reptiles

Do not have the equivalent of X and Y chromosomes Temperature and other environmental cues cause offspring to be male or female.

Parental Alleles are on Chromosomes

Chromosomal theory of inheritance
- Genes are present on chromosomes - Homologous chromosomes pair with each other during meiosis - Evidence was provided by work with fruit flies

Drosophila melanogaster
Morgan observed common traits in the fly populations wild type or normal phenotypes, red eyed flies mutant phenotypes, white eyed flies Drosophila melanogaster
Four pairs of chromosomes Male and female can be distinguished Colour of the eye
red-eyed female X white-eyed male

F1 generation all flies had red eyes Morgan concluded that red eyes are dominant

Chromosome Theory
Crossed F1 females X F1 males F2 generation contained red and white-eyed flies but all white-eyed flies were male

Testcross of a F1 female with a white-eyed male Morgan concluded that the eye color gene is present on the X chromosome...

Transmission of the X chromosome in fruit flies correlates with inheritance of the eye-colour trait eye-

SexSex-Linked Genes

X and Y sex chromosomes carry the genes that determine male and female traits carry genes for other characteristics. Genes carried by either sex chromosome are sex-linked genes. Inheritance patterns sex-linked genes are different from genes on autosomes Men inherit Y chromosomes, inherit Y-linked traits. Y-chromosome is greatly reduced or inactive Men and women inherit X chromosomes,  inherit X-linked traits

X-linked recessive allele

The "a" recessive allele will not be expressed in female (phenotype). They are carriers.

The "a" recessive allele will be expressed in male (phenotype ).

Recessive alleles found on the X chromosome in humans cause certain types of disorders Color blindness Muscular dystrophy , Hemophilia

Genetic Linkage & Chromosome Mapping

Cell Reproduction
Mitosis

Meiosis

Genes (a, a, b, b)

Genes (A, A, B, B)

Genes (a, A, b, B)

Meiosis

ab

ab ab AB AB

Gametes

AB aB bA

Gametes

Homologous pair

Parental type

Recombinant type

a, A, b, B

a, a+, b, b+
b recessive allele Black Body b+ dominant allele Grey Body vg recessive allele Vestigial wings vg+ dominant allele Normal wings

Recessive alleles

Dominant alleles

Linked Genes b vg as well as b+ vg+

Recombinant Genes b vg+ as well as b+ vg

Genetic Mapping
1% recombination = 1 map unit (m.u.) 1 map unit = 1 centimorgan (cM)
18cM

Recombination frequency =
Total progeny Parental progeny Recombinant progeny

recombinant progeny/ total progeny

1000

b+b vg+vg (415) and bb vgvg (405) b+b vgvg (92) and bb vg+vg (88)

Recombinant frequency (b to vg) 0.18 Map distance 110 x 0.18= 18cM

Frequency of Crossing over

Chromosome Map
Genetic map is an ordered list of the genetic loci along a particular chromosome Distance between genes on a chromosome. Based on genetic recombination (crossing over) between genes. Distance between genes is proportional to the frequency of recombination events.

Genetically Inherited Disorders

Genetic Disorder
Genes
Autosomes Sex chromosome

Chromosomes
Number Structure

Punnett Squares: Predictive tools for these Disorders Pedigree Analysis

Autosomal Disorders
Recessive alleles disorders -- Cystic fibrosis, Albinism, phenylketonuria Both copies of recessive genes will cause the disorder. Heterozygous (Aa) are carriers but healthy

Both parents are carriers of recessive allele

25% chance of being healthy and not have the recessive allele at all 50% chance of being a healthy carrier 25% chance of having the recessive disorder

One parent is carrier of recessive allele

50% chance of being a healthy carrier 50% chance having the recessive disorder

Autosomal Disorders
Dominant alleles disorders Sickle cell anemia, Polydactyly One copy of dominant gene will cause the disorder Homozygous (AA) individuals will have the disease Heterozygous (Aa) individuals will also have the disorder

One parent is carrier of dominant allele

50% chance of inheriting the disorder 50% chance of being entirely normal.

Both parents are carriers of dominant allele

75% chance of inheriting the disorder 25% chance of being entirely normal.

X-linked recessive allele

Man is normal and Woman is carrier of X-linked recessive allele X-

Boys will have a 50% chance of inheriting the disorder. None of their girls will have it, but 50% of them are carriers.

Man is carrier of X-linked recessive allele and Woman is normal X-

None of their boys will inherit the allele. All the girls will be carriers. Only girls receive X chromosomes from their fathers.

X-linked trait (hemophilia)

Hemophilia is an X-linked trait that shows up in males

This happens because if a female has a mutant copy, the other copy on the second X chromosome makes sufficient clotting protein While males have only one X chromosome

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Genetic Mosaics
X inactivation in Female Mammals

Chromosomal Disorders
Changes in chromosome number or structure Absence or excess or abnormal arrangement of chromosome(s) lead to disorders

Abnormal Chromosome Number

Aneuploidy
Offspring have an abnormal number of a particular chromosome Nondisjunction of Autosome
Down s Syndrome (trisomy of chromosome 21; 45+XY)

Nondisjunction of Sex-Chromosome
Turner s Syndrome (loss of one X chromosome in female; 44+X0) Klinefelter s Syndrome (additional copy of X chromosome; 44+XXX; 44+XXY)

Polyploidy
More than two complete sets of chromosomes in an organism Common in plants Known to occur among fish and amphibians Haploid (n) Triploid (3n) Tetraploid (4n)

Alterations of Chromosome Structure

Deletion; Duplication; Inversion; Translocation

Human Disorders Due to Chromosomal Alterations Structurally Altered Chromosomes Cri du chat deletion in chromosome 5 Chronic myelogenous leukemia a translocation from chromosome 22 to chromosome 9