Heredity

1. Heredity Biology 30

8. Early Theories of Inheritance Aristotle (384-322 B.C.E.) • proposed the first widely accepted theory of inheritance • called pangenesis • egg and sperm consist of particles called pangenes that come from all parts of the body. • upon fertilization the pangenes develop into the parts of the body from which they are derived.

9. egg and sperm consist of particles called pangenes that come from all parts of the body. • upon fertilization the pangenes develop into the parts of the body from which they are derived. Antony van Leeuwenhoek (1632-1723) • discovered sperm in semen. • he believed he thought he saw a complete miniature person called a homunculus inside the head of the sperm. • other people of Antony’s time thought that the egg contained the entire person.

10. Mendelian Genetics Gregor Mendel (1822-1884) • a Augustinian monk in Brunn (Czech Republic), Austria • his research laid the foundation for modern genetics and the science of inheritance. • for seven years he bred pea plants (Pisum sativum) and analyzed the results.

11. Mendelian Genetics • Mendel focuses on seven different traits of pea plants..

12. Mendelian Genetics • Mendel let plants self-pollinate to ensure they were true breeding. • true breeding plants exhibit the same characteristics generation after generation. • Mendel called • true breeding plants the parental or P generation • the first offspring first filial or F1 generation • If the F1 generation were to pollinate the offspring would be called the second filial or F2 generation

13. Mendelian Genetics • Mendel called the first offspring first filial or F1 generation • If the F1 generation were to pollinate the offspring would be called the second filial or F2 generation • because all of Mendel’s initial crosses only involved one trait we call them monohybrid crosses. • Mendel observed that: • for every trait crossed the F1 generation only showed one of the two parental traits. ie. if plants with round seeds were crossed with plants of wrinkled seeds the F1 generation would only have plants of round seeds.

14. Mendelian Genetics • Mendel observed that: • for every trait crossed the F1 generation only showed one of the two parental traits. ie. if plants with round seeds were crossed with plants of wrinkled seeds the F1 generation would only have plants of round seeds. • even though the F1 generation had a copy of both genes only one was expressed. • Mendel called this characteristic dominant. allele: one of alternative forms of a gene. the gene for wrinkled and the gene for round peas are alleles.

15. Mendelian Genetics • even though the F1 generation had a copy of both genes only one was expressed. • Mendel called this characteristic dominant. allele: one of alternative forms of a gene. the gene for wrinkled and the gene for round peas are alleles. dominant trait: a characteristic that is expressed when one or both alleles in an individual are the dominant form ~ dominant alleles are indicated by an uppercase letter (R)

16. Mendelian Genetics dominant trait: a characteristic that is expressed when one or both alleles in an individual are the dominant form ~ dominant alleles are indicated by an uppercase letter (R) • Mendel called the characteristic that was not expressed recessive recessive trait: a characteristic that is expressed only when both alleles in an individual are the recessive form. • Mendel concluded that one form showed complete dominance. • an individual with one dominant and one recessive (Rr) had the same characteristics as one with two dominant forms (RR)

17. Mendelian Genetics • Mendel concluded that one form showed complete dominance. • an individual with one dominant and one recessive (Rr) had the same characteristics as one with two dominant forms (RR)

18. Mendelian Genetics Important Definitions Homozygous: having identical alleles for the same gene Heterozygous: having different alleles for the same gene. Genotype: the genetic complement of an organism Phenotype: the observable characteristics of an organism Segregation: the separation of alleles during meiosis.

19. Mendelian Genetics Genotype: the genetic complement of an organism Phenotype: the observable characteristics of an organism Segregation: the separation of alleles during meiosis. Law of Segregation • Mendel’s First Law • All individuals have two copies of each factor (gene). These copies segregate (separate) randomly during gamete formation, and each gamete receives one copy of every gene. • in 1909 Danish Botanist Wilhem Ludwig Johannsen called Mendel’s “factors” genes

20. Mendelian Genetics Analyzing Genetic Crosses Reginald Punnett (1875-1967) • devised a visual way to analyze the results of crosses, called a Punnett’s square.

21. Mendelian Genetics Punnett Squares • are used to predict the genotype and phenotype of potential off-spring • very useful when producing economically important cattle and plants. Phenotypic Ratio Genotypic Ratio

23. Mendelian Genetics In order to see recessive phenotypes the genotype must be homozygous

24. Test Cross • a test cross of an individual of unknown genotype to an individual that is fully recessive • the phenotypes of the F1 generation of the test cross reveals whether the unknown genotype is homozygous or heterozygous • example: • you have a white ram (white is dominant “W” and black is recessive “w”) and want to know if it is heterozygous or homozygous for breeding purposes.

25. example: • you have a white ram (white is dominant “W” and black is recessive “w”) and want to know if it is heterozygous or homozygous for breeding purposes. • do a test cross by crossing your unknown ram with one showing a recessive phenotype. • it must have a recessive genotype (ww)

26. If the ram is Heterozygous it will produce: Phenotypic ratio: 50% white 50% black, or 2:2 or 1:1 Genotypic ratio: 2:2 or 1:1 hetero:homo recessive If the ram is Homozygous it will produce: Phenotypic ratio: 100 % White Genotypic ratio: 100% heterozygous

27. Analyze: Heterozygous Seed shape crossed with a recessive seed shape Analyze: What are the predicted phenotypes and genotypes? Phenotypic Ratio • 50% round 50% wrinkled or 2:2 or 1:1, ½, 2/4, Genotypic Ratio • 50% hetero: 50% homo recessive, 2:2 or 1:1, hetero 2/4 or ½ homo recessive 2/4 or ½

28. Example Problem • A horticulturist has seeds from a cross but does not know the genotype of the phenotype of the parents. Use the following information to figure out the parental phenotype and genotype Solution because there is two different phenotypes one the parents must not be homozygous dominant

29. Solution because there are two different phenotypes one the parents must not be homozygous dominant Solution 5472/1850 = 2.96 2.96/1 or 2.96 : 1 ~ 3 : 1 to get a 3:1 ratio both parents must be heterozygous

30. Mendelian Genetics 3:1 Phenotypic ratio 1:1 (50%) Phenotypic ratio

31. Mendel’s Second Law • The Law of Independent Assortment • Mendel also crossed plants of two traits. • because two traits are involved in these crosses they are called a dihybrid cross. • Mendel crossed true breeding tall plants that had green pods (TTGG) with true breeding short plants that had yellow pods (ttgg) to produce the F1 generation

32. in this case the true breeding plants will produce only one type of gametes TTGG → will produce gametes with the TG genes ttgg→ will produce gametes with the tg genes • the phenotypic ratio of the F1 generation: 100% tall and green pods • the genotypic ratio of the F1 generation 100% heterozygous

33. Mendel then crossed the F1 generation to produce an F2 generation • in this case the plants of the F1 generation produce four different types of gametes TtGg → will produce gametes with the: TG genes (tall, green) Tg genes (tall, yellow) tG genes (short, green) tg genes (short, yellow)

34. TtGg → will produce gametes with the: TG genes Tg genes tG genes tg genes

35. TT = tall GG = green Tt = tall Gg = green tt = short gg = yellow

36. for every dihybrid cross that Mendel carried he got the 9:3:3:1 ratio (when he crossed the F1 generation). • this ratio is what is expected if the segregation of alleles for one gene had no influence on the segregation of alleles of another gene. Law of Independent Assortment • The two alleles of one gene segregate (assort) independently of the alleles for other genes during gamete formation

37. Law of Independent Assortment • The two alleles of one gene segregate (assort) independently of the alleles for other genes during gamete formation Pleiotropic Genes • a gene that affects more than one characteristic • example: Sickle-cell anemia • the normal hemoglobin is produced by the allele HbA • in sicke-cell anemia the individual has two copies of the mutated allele Hbs

38. Pleiotropic Genes • a gene that affects more than one characteristic • example: Sickle-cell anemia • the normal hemoglobin is produced by the allele HbA • in sicke-cell anemia the individual has two copies of the mutated allele Hbs • the mutation cause abnormally shaped hemoglobin that cannot deliver oxygen to the cells. • causes fatigue, enlarged spleen, pneumonia and major organ damage. • a heterozygous individual has resistance to malaria but an increased chance of having homozygous recessive offspring.