Biology 212 General Genetics Lecture 4: "Mendelian Genetics I" Spring 2007 Reading: Chap. 2 pp. 34-45 Lecture Outline: 1. Mendel's experiments 2. Molecular basis for round vs. wrinkled 3. Principle of segregation Lecture: Mendelian Genetics=Classical Genetics=Transmission Genetics=Study of how genes are transmitted from generation to generation. 1. Mendel's experiments Gregor Mendel 1856-1863 Monk, teacher of physics and natural history. Experiments on garden peas. Traits in peas: 7 in all, including Round vs. wrinkled seeds Green vs. yellow seeds Purple vs. white flowers Tall vs. short stems Mendel's crosses Chose very distinct traits Selected stocks that were true-breeding for these traits Carried out controlled breeding experiments Crossed pollen of one plant with the ova of another Can self-cross plants: allow to self pollinate Mendel found Each parent contributes distinct "factors" (=genes) to offspring Factors remain unchanged as they are passed on Example of a monohybrid cross (=cross between organisms that differ in one trait) P1 generation F1 generation True-breeding wrinkled x true-breeding round All round 1 Therefore round is dominant trait, wrinkled is recessive trait. See Fig. 2.5 2. Molecular Basis for Mendel's traits: round vs. wrinkled round seed gene wrinkled seed gene: has insertion mutation SB enzyme I defective SB enzyme I Round have enzyme to make starch; shrink evenly. Wrinkled have defective enzyme for making starch; shrink unevenly. Nomenclature: W=round w=wrinkled Capital letter for dominant trait Lower case letter for recessive trait Round is wild type= commonly found type Wrinkled is mutant, rarely found Ways of distinguishing variants (=alleles of traits): Observe physical difference o Example shape, color Measure molecular difference o Example: electrophoresis of DNA Small version of gene=round Larger version of gene=wrinkled Electrophoresis diagrams of Wrinkled Round F1 hybrid See Figure 2.6 Visible traits are frequently dominant or recessive. Often have codominant molecular forms. Neither form is dominant at the molecular level. 2 3. Principle of segregation Before Mendel Blending inheritance Traits of parents become blended in the hybrid Mendel believe traits behaved as discrete units; don't blend To observe Mendelian inheritance must observe a couple generations of crosses P1 round X wrinkled F1 round X F2 5474 round 1850 wrinkled F1 round (self-cross) F2 ratio 2.96:1 Results: In F2 generation, the recessive wrinkled trait reappears. The ratio of dominant to recessive is about 3:1. Mendel predicted a. Genes come in pairs (=alleles) b. Paired genes separate (segregate) in gamete formation c. gametes unite at random in fertilization Fig. 2.6 Illustration of Mendel's concepts in monohybrid cross of round and wrinkled peas. WW Round x ww wrinkled Gametes W Fertilization w One copy of each gene in gamete Ww Intercrossing of hybrid: Ww x Ww "Punnett square" W w W WW Ww w Ww ww 3/4 round (WW and Ww) to 1/4 wrinkled (ww) 3 Principle of segregation: In the formation of gametes, the paired genes separate and are equally likely to be distributed to the mature gametes. Summary of Mendel's observations for monohybrid crosses One trait is dominant, one is recessive. In the F1 generation, the recessive trait does not appear in a cross of a truebreeding dominant individual and a true breeding recessive individual. The recessive trait will reappear in 1/4 of the progeny in an F1 x F1 monohybrid cross the dominant trait will occur in 3/4 of the individuals Other terms used in classical genetics: Gene: the hereditary determinant of a trait Allele: different forms of a particular gene Genotype: genetic make-up of an individual Heterozygote: individual with two different alleles for a gene Homozygote: individual with two of the same types of alleles for a gene Phenotype: the observable traits of an organism Recessive trait: a trait that is only expressed when genotype is heterozygous Dominant trait: a trait that is expressed when the genotype is either homozygous or heterozygous 4