HEREDITY. Heredity is the transmission of particular characteristics from parent to offspring.

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1 INHERITANCE IN LIFE

2 HEREDITY Heredity is the transmission of particular characteristics from parent to offspring.

3 Mendel presented completely new theory of inheritance in the journal Transactions of the Natural History society of Brunn. His work was rediscovered in 1900, simultaneously by Hugo de Vries in Holland, Gregor Johann Mendel Carl Correns in Germany and Erich Tschermak in Austria. Mendel is often referred to as Father of Genetics, His experiments and principles collectively form Mendelian genetics.

4 Gregor Mendel ( ) Studied garden peas 1 st to use mathematics to examine outcomes of crosses Number of pea varieties with at least 7 easily distinguished traits Peas are small, easy to grow, short generation time Peas can self-fertilize; bisexual

5 Dominance and recessive traits Principal of dominance is only one of the two contrasting character will appear or expressed F1 generation showed only purple flowers (dominant) White is a recessive trait in F1 generation

6 Terminologies 1. Mendelian factors are now called genes 2. Alleles are different versions of the same gene 3. An individual with two identical alleles is termed homozygous 4. An individual with two different alleles, is termed heterozygous 5. Genotype refers to the specific allelic composition of an individual 6. Phenotype refers to the outward appearance of an individual

7 Genotype and Phenotype Hereditary traits are under the control of genes (Mendel called them factors). Genotype is the genetic makeup of an organism, a description of the genes it contains. Phenotype is the characteristics that can be observed in an organism. Phenotype is determined by interaction of genes and environment Genes provide potential, but environment determines whether that potential is realized

8 Terminologies Dominant - stronger of two genes expressed in the hybrid; represented by a capital letter (R) Recessive - gene that shows up less often in a cross; represented by a lowercase letter (r) Self-fertilization can occur in the same flower Cross-fertilization can occur between flowers P/F1/F2 generations

9 Keys to Mendel s success The garden pea was an ideal organism for study because: Vigorous growth Self fertilization Easy to cross fertilize Produces large number of offspring each generation

10 Keys to Mendel s success Mendel analysed traits with discrete alternative forms (one of two options) purple vs. white flowers yellow vs. green peas round vs. wrinkled seeds long vs. short stem length Mendel established pure/true breeding lines to conduct Controlled fertilization experiments (traits remain constant from generation to generation)

11

12 Monohybrid cross In monohybrid cross Mendel selected one character for his experiment. Crosses were made between white flowered and purple flowered plants. Pollens from the purple flowers were placed onto the stigma of white flower. Allowed it to cross fertilization All the seeds in the pod resulted from this pollination were hybrids.

13

14 LAW OF SEGREGATION Whenever a pair of factors for character brought together in a hybrid, they segregate during the formation of gametes. Hence each gamete is pure with reference to this character.

15 Test cross and Back cross A cross involving the F1 individuals with either of the two parents is called back cross. The cross between F1 and recessive parent is called test cross (Pp X pp). All the test crosses are back cross but all the back crosses are not a test cross Test cross helps to test whether the individual is homozygous or heterozygous.

16 Back cross - Testcross

17 Dihybrid cross Mendel crossed a pea plant producing Round yellow seeds with one producing green and wrinkled seeds of pure breed variety. In F1 generation plants obtained producing only round yellow seeds F1 were allowed for self-pollination to get F2 generation. In F2 generation, 4 different types of plants were produced that is a) Round yellow b) Round green c) wrinkled yellow d) wrinkled green. Phenotype ratio of 4 types of plants were 9:3:3:1

18

19 Principle of Independent Assortment (Mendel s 2 nd Law) The factors for two or more pairs of contrasting characters are distributed independently of one another at the time of gamete formation. In a dihybrid cross, the alleles of each gene assort independently

20 Dihybrid test cross A dihybrid test cross involves crossing of the F1 dihybrid with a double recessive parental type. RrYy (F1) X rryy (P) Genotype and Phenotype ratio is 1:1:1:1 ry RrYy Round Yellow RY Ry ry ry Rryy rryy rryy Round Wrinkled Wrinkled Green Yellow Green

21 Chromosomal theory of inheritance The chromosome theory of inheritance allows us to see the relationship between Mendel s laws and chromosome transmission Mendel s law of segregation and independent assortment can be explained by the homologous pairing and segregation of chromosomes during meiosis

22 Cell division Mitosis

23 Meiosis

24 Meiosis

25 Meiosis

26 Chromosomal theory of inheritance The chromosome theory of inheritance describes how the transmission of chromosomes account for the Mendelian patterns of inheritance This theory was independently proposed in by Theodore Boveri, a German Scientist Walter Sutton, an American Scientist

27 Chromosomal theory The hereditary material must reside within the nuclei of the gametes. Chromosomes segregate during meiosis. Gametes have a copy of one member of each pair of homologous chromosomes diploid individuals have a copy of both members of the pair. During meiosis, each pair of homologous chromosomes orients on the metaphase plate independently of any other pair. It is the chromosomes that undergo segregation and independent assortment.

28 Humans have 46 chromosomes 44 autosomes 2 sex chromosomes Males contain one X and one Y chromosome They are termed as heterogametic Females have two X chromosomes They are homogametic The Y chromosome determines the gender

29 Morgan s experiment In 1910 the American geneticist Thomas Hunt Morgan, studying the fly Drosophila melanogaster, He detected a mutant fly, a male fly that differed strikingly from normal flies of the same species. The eyes were white instead of the normal red. Morgan s discovery of a white eyed trait that correlated with the sex of flies was a key episode in the development of the chromosome theory of inheritance.

30 Morgan s Experimental evidence

31 Recombination of linked genes crossing over

32

33 Genetic disorder Alterations in Chromosomal number Down syndrome

34 Alterations in chromosomal structure

35 Alterations in chromosomal structure

36 Chromosomal translocations

37 Pedigree analysis Collecting the information about a family s history for a particular trait and assembling this information into a family tree describing the traits of parents and children across the generations is the family pedigree.

38 Pedigree of dominant trait Widow s peak is a dominant or recessive trait?

39 Pedigree of recessive trait Is attached earlobe a dominant or recessive trait?

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