Mendelian Genetics

1. Mendelian Genetics Reading: Chap. 14 I. Intro A. Motivating question B. Mendel II. Mendel’s findings A. Law of segregation B. Law of independent assortment III. Complications IV. Examples from human genetics

2. Terms and Concepts - character, trait, alleles - P, F1, F2 - dominant/recessive - law of segregation - law of independent assortment - homozygous/heterozygous - phenotype/genotype - testcross • Rules of probability • Complications: • - complete, incomplete and co- dominance • - multiple alleles • - pleiotropy • - Epistasis • - quantitative characters: polygenic inheritance

3. Motivating question: Radiation of the Galápagos finches Beak sizes Food availability Range overlap Probable ancestors

4. Galápagos Islands

5. What Darwin knew (and inferred): Patterns of distribution Mechanism of natural selection heritable traits “struggle for existence” higher fitness --> more offspring Shift in average traits in population

6. What he didn’t know: How did heritability work? What exactly was passed down from parents to offspring? Blending vs. particulate? No idea about: Genes, chromosomes, DNA, mitosis and meiosis

7. Gregor Mendel Austrian contemporary of Darwin Published shortly after Darwin - but work was “buried” Fig 22.1

8. Who was Mendel? - Austrian monk - Background in agriculture (grew up on a farm) - Failed his teacher’s exam - University of Vienna: math, causes of variation in plants - Teaching at the Brünn Modern School

9. What did he do? Pea breeding Testing mechanisms of inheritance Used many different characters Published results in 1865

10. Why did his experiments succeed? Control over fertilization Multiple generations: P, F1, F2 True breeding parents “Either/or” characters

11. II. What did Mendel find? A. Law of segregation (of alleles) B. Law of independent assortment (of traits)

12. A1. Mendel’s experiments: Simple cross P - true breeding parents with different traits for same character. F1 - Cross two of same generation F2 - evaluate resulting traits: 3 to 1

13. Mendel tested many traits 3 to 1!!! Did Mendel fudge?

14. A2. Mendel’s interpretation - one factor from each parent - dominant vs. recessive - particulate inheritance: can get pure traits back

15. Genotype vs. phenotype homozygous vs. heterozygous

16. 3. Law of segregation When hybrid plants produce gametes, the two parental factors segregate: half the gametes get one type, half get the other type. All possible combinations, random combinations

17. 4. Rules of probability - multiplicity - additivity

18. OK, prove it! The testcross Dominant phenotype: what genotype? Predictions follow from particulate inheritance

19. 5. What do we know now?

20. Alleles segregate on the homologous chromosomes Chromosomes, genes, and alleles P p

21. How does the law of segregation relate to meiosis? Homologous chromosomes separate after doubling Sister chromatids separate Fig. 13.6

22. B. Law of independent assortment What about two or more characters? Are they inherited together or independently?

23. 1. Two traits: an example Together Independent

24. Law of independent assortment (of characters) “Independent segregation of each pair of alleles (i.e., genes coding for each character) during gamete formation.”

25. Rules of probability From YyRr x YyRr Yellow round: YYRR YYRr YyRR YyRr (1/4*1/4) + (1/2*1/4)+(1/2*1/4)+(1/2*1/2) = 9/16 Green round: yyRR yyRr (1/4*1/4) + (1/4*1/2) = 3/16 Yellow wrinkled: YYrr Yyrr (1/4*1/4) + (1/2*1/4) = 3/16 Green wrinkled: yyrr (1/4*1/4) = 1/16

26. How does this relate to independent assortment of chromosomes in meiosis? fig. 13.9 2. What we know now: Mendel’s independent assortment referred to characters.

27. What if genes for two traits are on the same chromosome? Independent or linked? Linked, except for…? Crossing over Depends how close they are: genes further apart are more likely to behave as indpendent.

28. Mendel got lucky…twice 1. Genes for traits he studied were either on separate chromosomes, or 2. Far enough apart on the same chromosome that they assorted independently

29. III. Complications A. Dominance, Incomplete dominance and Codominance

30. A1. Incomplete dominance in snapdragon - Phenotype is intermediate - NOT blending Fig. 14.9

31. A2. Codominance - M, N, MN blood groups MM MN BOTH traits expressed NN

32. B. Complications: Multiple alleles ABO blood groups Dominant Dominant Codominant Recessive fig. 14.10

33. C. Complications: Pleiotropy - One gene affects many characters - Sickling allele of hemoglobin fig. 14.15

34. D. Complications: Polygenic Inheritance and Quantitative Characters - One trait determined by multiple genes - Converse of pleiotropy - e.g., skin color: at least 3 genes fig. 14.12

35. E. Complications: Epistasis - Expression of one gene depends on another - Mouse coat color: B - black coat b - brown coat C - pigment c - no pigment fig. 14.11

36. IV. Examples from human genetics Several excellent examples in the book. - Simple traits, geneologies - Genetic disorders (Tay-Sach’s disease, Huntington’s disease, cystic fibrosis, etc.) Understand how they work, but don’t need to memorize the details of each. Why might mating between close offspring lead to increased incidence of genetic disorders?

37. Where do we go from here? Have: Mechanism for natural selection Mechanism for heritability Not yet: Understanding of meiosis, maintenance of genetic variability “Molecular carrier” of heritable information

38. Darwin Mendel Population genetics DNA The modern synthesis Fig 22.1