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 • Chapter 2 • Transmission Genetics: Heritage from Mendel • Chapter 2 • Transmission Genetics: Heritage from Mendel

Gregor Mendel • G. Mendel carried out his experiments from 1856 to 1863 in Gregor Mendel • G. Mendel carried out his experiments from 1856 to 1863 in a small garden plot nestled in a corner of the St. Thomas monastery in the town of Brno • He published the results and his interpretation in its scientific journal in 1866 • Mendel’s paper contains the first clear exposition of the statistical rules governing the transmission of hereditary elements from generation to generation 2

Mendel’s Genetic Hypothesis • Each parent contributes to its progeny distinct elements of heredity Mendel’s Genetic Hypothesis • Each parent contributes to its progeny distinct elements of heredity = factors = genes • Factors remain unchanged as they pass through generations • Mendel thought in quantitative, numerical terms. He looked for statistical regularities in the outcome from his crosses 3

Mendel’s Experiments • Experimental organism: garden pea, Pisum sativum • Advantages: many known varieties Mendel’s Experiments • Experimental organism: garden pea, Pisum sativum • Advantages: many known varieties with different alternative traits, self-fertilization, easy artificial fertilization • True-breading varieties = self-fertilized plants produce only progeny like themselves 4

Figure 2. 2: Reciprocal crosses of truebreeding pea plants 5 Figure 2. 2: Reciprocal crosses of truebreeding pea plants 5

Mendel’s Experiments • True-breading plants with different forms of a trait, such as round Mendel’s Experiments • True-breading plants with different forms of a trait, such as round vs. wrinkled seeds • All of the F 1 progeny exhibited only one parental trait (round seeds) • In F 2 generation obtained by self-fertilization of F 1 plants, the observed ratio of visible traits was 3 round : 1 wrinkled • Outcome of cross was independent of whether the trait came from the male or female parent: reciprocal crosses produced the same result 6

Figure 2. 5: Expression of Mendel’s traits in plants and seeds 7 Figure 2. 5: Expression of Mendel’s traits in plants and seeds 7

Figure 2. 3: The seven character differences in peas studied by Mendel 8 Figure 2. 3: The seven character differences in peas studied by Mendel 8

Mendel’s Hypothesis • Each true-breading parent has two identical copies of the genetic information Mendel’s Hypothesis • Each true-breading parent has two identical copies of the genetic information specifying the trait = homozygous • Each gamete contains only one copy of a hereditary factor specifying each trait • Random fertilization unites two copies of the gene in the progeny • F 1 progeny contains different variants (alleles) of the gene = heterozygous 9

Mendel’s Hypothesis • The genetic constitution of an organism = genotype • The observable Mendel’s Hypothesis • The genetic constitution of an organism = genotype • The observable properties of an organism = phenotype • In the cross between round and wrinkled seed pea plants: – Round seed parent has two identical copies of genetic information = its genotype = AA – The genotype of a wrinkled seed parent = aa 10

Dominance • Round seed parent contributes “A” gamete to offspring • Wrinkled seed parent Dominance • Round seed parent contributes “A” gamete to offspring • Wrinkled seed parent contributes “a” gamete to offspring • Offspring genotype = A + a = Aa contains one copy of “A” and one copy of “a” • All offspring produce round seeds although their genotype is “Aa” because “A” is dominant and “a” is recessive 11

Round vs. Wrinkled: Modern Context • The gene that determines the shape of a Round vs. Wrinkled: Modern Context • The gene that determines the shape of a seed encodes an enzyme, starch-branching enzyme I (SBEI), required to synthesize a branched-chain form of starch known as amylopectin • Round (W) seeds contain amylopectin and shrink uniformly as they dry • Wrinkled (w) seeds lack amylopectin and shrink irregularly 12

Round vs. Wrinkled: Modern Context • Wrinkled peas have an inborn error in starch Round vs. Wrinkled: Modern Context • Wrinkled peas have an inborn error in starch metabolism • The molecular basis of the wrinkled (w) mutation = SBEI gene is interrupted by the insertion of a DNA sequence called a transposable element • Transposable elements = DNA sequences capable of moving (transposition) from one location to another 13

Round vs. Wrinkled: Modern Context • A procedure called gel electrophoresis is used to Round vs. Wrinkled: Modern Context • A procedure called gel electrophoresis is used to separate DNA molecules of different sizes • DNA fragment corresponding to the W form of the SBEI gene moves farther than the w fragment, because the w fragment is larger (owing to the insertion of the transposable element) 14

Figure 2. 4: Banding as a result of distinct sizes of DNA molecules 15 Figure 2. 4: Banding as a result of distinct sizes of DNA molecules 15

Round vs. Wrinkled: Modern Context • Classical geneticists studied primarily morphological traits = the Round vs. Wrinkled: Modern Context • Classical geneticists studied primarily morphological traits = the shape of a seed is manifestly round or wrinkled • Modern geneticists study morphological traits, too, but they supplement this with molecular traits = the pattern of bands in a gel • Morphological traits are frequently dominant or recessive, but this is not necessarily true of molecular traits 16

Round vs. Wrinkled: Modern Context • When alternative forms of a gene (W and Round vs. Wrinkled: Modern Context • When alternative forms of a gene (W and w) can both be detected when they are present in the cell, we say that the forms of the gene are codominant • Molecular traits are often (but by no means always) codominant • Dominance is not an intrinsic feature of a gene; it rather depends on the method we chose to examine it 17

Figure 2. 6: A diagrammatic explanation of the 3 : 1 ratio of dominant Figure 2. 6: A diagrammatic explanation of the 3 : 1 ratio of dominant : recessive visible traits observed 18

Segregation • When an F 1 plant is self-fertilized, the A and a determinants Segregation • When an F 1 plant is self-fertilized, the A and a determinants segregate from one another and are included in the gametes in equal numbers • The gametes produced by segregation come together in pairs at random to yield the progeny of the next generation • In the F 2 generation, the ratio of the progeny with dominant trait to the progeny with recessive trait is 3: 1. In case of round and wrinkle seeds, 3/4 round and 1/4 wrinkled offspring 19

The Principle of Segregation • The Principle of Segregation: • In the formation of The Principle of Segregation • The Principle of Segregation: • In the formation of gametes, the paired hereditary determinants (genes) segregate in such a way that each gamete is equally likely to contain either member of the pair 20

Monohybrid Genetic Cross • Genetic cross : Aa X Aa produces A and a Monohybrid Genetic Cross • Genetic cross : Aa X Aa produces A and a gametes from each parent • Punnett square shows four possible outcomes = AA, Aa, a. A, and aa • Three combinations = AA, Aa, and a. A produce plants with round seeds and display a round phenotype • Fourth combination = aa displays wrinkled phenotype 21

Figure 2. 7: In the F 2 generation, the ratio of WW : Ww Figure 2. 7: In the F 2 generation, the ratio of WW : Ww : ww is 1 : 2 : 1. 22

Monohybrid Genetic Cross Parents: Aa X Aa Each parent produces A and a gametes Monohybrid Genetic Cross Parents: Aa X Aa Each parent produces A and a gametes and contributes one gamete at fertilization 1/4 AA round dominant 1/2 Aa round dominant 1/4 aa wrinkled recessive 23

Testcross Analysis • Testcross = a cross between an organism of dominant phenotype (genotype Testcross Analysis • Testcross = a cross between an organism of dominant phenotype (genotype unknown) and an organism of recessive phenotype (genotype known to be homozygous recessive) • In a testcross, the relative proportion of the different gametes produced by the heterozygous parent can be observed directly in the proportion of phenotypes of the progeny, because the recessive parent contributes only recessive alleles 24

Testcross Results • AA + aa = Aa – testcross produces dominant progeny only: Testcross Results • AA + aa = Aa – testcross produces dominant progeny only: parent homozygous • Aa + aa = 1/2 Aa + 1/2 aa – testcross produces 1/2 dominant and 1/2 recessive individuals: parent heterozygous 25

Figure 2. 9: A testcross shows the result of segregation directly in the phenotypes Figure 2. 9: A testcross shows the result of segregation directly in the phenotypes of the progeny 26

Dihybrid Cross • Mendel studied inheritance of two different traits, such as seed color Dihybrid Cross • Mendel studied inheritance of two different traits, such as seed color (yellow vs. green) and seed shape (round vs. wrinkled) in the same cross = dihybrid cross • The F 1 progeny were hybrid for both characteristics, and the phenotype of the seeds was round (dominant to wrinkled) and yellow (dominant to green) • In the F 2 progeny, he observed the 9 round yellow : 3 wrinkled yellow : 3 round green : 1 wrinkled green ratio 27

Dihybrid Cross • Mendel carried out similar experiments with other combinations of traits. For Dihybrid Cross • Mendel carried out similar experiments with other combinations of traits. For each pair of traits, he consistently observed the 9: 3: 3: 1 ratio • He also deduced the biological reason for the observation: • In the F 2 progeny, if the 3: 1 ratio of round: wrinkled is combined at random with the 3: 1 ratio of yellow: green, it yields the 9: 3: 3: 1 ratio of a dihybrid cross 28

Figure 2. 10: 9 : 3 : 1 ratio that Mendel observed in the Figure 2. 10: 9 : 3 : 1 ratio that Mendel observed in the F 2 progeny of the dihybrid cross 29

Independent Segregation • The Principle of Independent Assortment: • Segregation of the members of Independent Segregation • The Principle of Independent Assortment: • Segregation of the members of any pair of alleles is independent of the segregation of other pairs in the formation of reproductive cells. Figure 2. 11: Independent segregation of the Ww and Gg allele pairs 30

Dihybrid Testcross • The progeny of testcrosses show the result of independent assortment • Dihybrid Testcross • The progeny of testcrosses show the result of independent assortment • The double heterozygotes produce four types of gametes in equal proportions, the ww gg plants produce one type • The progeny phenotypes are expected to consist of round yellow, round green, wrinkled yellow, and wrinkled green in a ratio of 1: 1: 1: 1 This observation confirmed Mendel’s assumption that the gametes of a double heterozygote included all possible genotypes in approximately equal proportions 31

Figure 2. 14: Genotypes and phenotypes resulting from a testcross of a Ww Gg Figure 2. 14: Genotypes and phenotypes resulting from a testcross of a Ww Gg double heterozygote 32

Trihybrid Genetic Cross • Trihybrid cross = three pairs of elements that assort independently, Trihybrid Genetic Cross • Trihybrid cross = three pairs of elements that assort independently, such as Ww. Gg. Pp • For any pair phenotypic ratio = 3: 1 • For any two pairs ratio = 9: 3: 3: 1 • Trihybrid cross pattern of segregation and independent assortment is identical to dihybrid 33

Probabilities • Mendelian patterns of inheritance follow laws of probability • Addition Rule: The Probabilities • Mendelian patterns of inheritance follow laws of probability • Addition Rule: The probability of the realization of one or the other of two mutually exclusive events, A or B, is the sum of their separate probabilities • Prob {WW or Ww} = Prob {WW} + Prob{Ww} = 0. 25 + 0. 50 = 0. 75 34

Figure 2. 15: The use of the addition and multiplication rules to determine the Figure 2. 15: The use of the addition and multiplication rules to determine the probabilities of genotypes and phenotypes 35

Probabilities • Multiplication Rule: The probability of two independent events, A and B, being Probabilities • Multiplication Rule: The probability of two independent events, A and B, being realized simultaneously is given by the product of their separate probabilities • Prob {WG} = Prob {W} x Prob{G} = 0. 5 x 0. 5 = 0. 25 Figure 2. 16: Two important types of independence 36

Pedigree Analysis • In humans, pedigree analysis is used to determine individual genotypes and Pedigree Analysis • In humans, pedigree analysis is used to determine individual genotypes and to predict the mode of transmission of single gene traits Figure 2. 17: Conventional symbols used in depicting human pedigrees 37

Autosomal Dominant • Huntington disease is a progressive nerve degeneration, usually beginning about middle Autosomal Dominant • Huntington disease is a progressive nerve degeneration, usually beginning about middle age, that results in severe physical and mental disability and ultimately in death • The trait affects both sexes • Every affected person has an affected parent • ~1/2 the offspring of an affected individual are affected Figure 2. 18: Pedigree of a human family showing the inheritance of the dominant gene for Huntington disease 38

Autosomal Recessive • Albinism = absence of pigment in the skin, hair, and iris Autosomal Recessive • Albinism = absence of pigment in the skin, hair, and iris of the eyes • The trait affects both sexes • Most affected persons have parents who are not themselves affected; the parents are heterozygous for the recessive allele and are called carriers • Approximately 1/4 of the children of carriers are affected • The parents of affected individuals are often relatives 39

Figure 2. 19: Pedigree of albinism, a recessive genetic disorder 40 Figure 2. 19: Pedigree of albinism, a recessive genetic disorder 40

Incomplete Dominance • Incomplete dominance = the phenotype of the heterozygous genotype is intermediate Incomplete Dominance • Incomplete dominance = the phenotype of the heterozygous genotype is intermediate between the phenotypes of the homozygous genotypes • Incomplete dominance is often observed when the phenotype is quantitative rather than discrete Figure 2. 21: Incomplete dominance in the inheritance of flower color in snapdragons 41

Multiple Alleles/Codominance • Codominance means that the heterozygous genotype exhibits the traits associated with Multiple Alleles/Codominance • Codominance means that the heterozygous genotype exhibits the traits associated with both homozygous genotypes • Codominance is more frequent for molecular traits than for morphological traits • Multiple alleles = presence in a population of more than two alleles of a gene • ABO blood groups are specified by three alleles IA, IB and IO • IA and IB codominant, both IA and IB are dominant to IO 42

Multiple Alleles/Codominance • People of: – blood type O make both anti-A and anti-B Multiple Alleles/Codominance • People of: – blood type O make both anti-A and anti-B antibodies – blood type A make anti-B antibodies – blood type B make anti-A antibodies – blood type AB make neither type of antibody 43

Figure 2. 22: The ABO antigens on the surface of human red blood cells Figure 2. 22: The ABO antigens on the surface of human red blood cells are 44 carbohydrates

Expressivity and Penetrance • Variation in the phenotypic expression of a particular genotype may Expressivity and Penetrance • Variation in the phenotypic expression of a particular genotype may happen because other genes modify the phenotype or because the biological processes that produce the phenotype are sensitive to environment • Variable expressivity refers to genes that are expressed to different degrees in different organism • Penetrance refers to the proportion of organisms whose phenotype matches their genotype for a given trait. A genotype that is always expressed has a penetrance of 100 percent 45

Epistasis • Epistasis refers to any type of gene interaction that results in the Epistasis • Epistasis refers to any type of gene interaction that results in the F 2 dihybrid ratio of 9: 3: 3: 1 being modified into some other ratio • In a more general sense, it means that one gene is masking the expression of the other • Flower color in peas: formation of the purple pigment requires the dominant allele of both the C and P genes: the F 2 ratio is modified to 9 purple: 7 white Figure 2. 24: A cross showing epistasis in the determination of flower color in peas 46

Epistasis • There are nine possible dihybrid ratios when both genes show complete dominance Epistasis • There are nine possible dihybrid ratios when both genes show complete dominance Examples: • 9: 7 occurs when a homozygous recessive mutation in either or both of two different genes produces the same phenotype • 12: 3: 1 results when a dominant allele of one gene masks the genotype of a different gene • 9: 3: 4 is observed when homozygosity for a recessive allele masks the expression of a different gene 47

Figure 2. 25: Modified F 2 dihybrid ratios. In each row, different colors indicate Figure 2. 25: Modified F 2 dihybrid ratios. In each row, different colors indicate different phenotypes 48