CHAPTER 10: Patterns of Inheritance
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1 CHAPTER 10: Patterns of Inheritance BIO 121 Genetics Explains and Predicts Inheritance Patterns Genetics can explain how these poodles look different. Section 10.1 Puppies Punchstock/Banana Stock RF Genetics Explains and Predicts Inheritance Patterns Analyzing their genes can also help predict the appearance of their offspring. Section 10.1 Puppies Punchstock/Banana Stock RF 1
2 Genetics Explains and Predicts Inheritance Patterns But most genes encode proteins that have nothing to do with outward appearance. The enzymes essential to these poodles lives are also the products of genetics. Section 10.1 Puppies Punchstock/Banana Stock RF Genetics Explains and Predicts Inheritance Patterns Studying genetics also allows scientists to breed superior crops and doctors to track genetic illnesses. Section 10.1 Puppies Punchstock/Banana Stock RF Review Recall that DNA is wound tightly into chromosomes. Section 10.1 Karyotype CNRI/Science Source Figure
3 Review Cells with only one set of chromosomes, such as sex cells, are haploid. Chromosomes are unpaired Haploid cell Section 10.1 Karyotype CNRI/Science Source Figure 10.1 Review When two haploid cells fuse during fertilization, a diploid zygote with two full sets of chromosomes is formed. Chromosomes are unpaired Chromosomes are paired Haploid cell Diploid cell Section 10.1 Karyotype CNRI/Science Source Figure 10.1 Review Most cells of a mature human are diploid. Section 10.1 Karyotype CNRI/Science Source Figure
4 Review Human diploid cells contain 22 pairs of autosomes, chromosomes that are the same for both sexes. Section 10.1 Karyotype CNRI/Science Source Figure 10.1 Review Diploid cells also contain one pair of sex chromosomes. Section 10.1 Karyotype CNRI/Science Source Figure 10.1 Review Chromosomes are paired in diploid cells. Each autosome is a member of a homologous pair of chromosomes. Section 10.1 Karyotype CNRI/Science Source Figure
5 Chromosomes Are Packets of Genetic Information Members of a homologous pair have the same genes, but might have different versions (alleles) of those genes. Section 10.1 Karyotype CNRI/Science Source Figure 10.1 Chromosomes Are Packets of Genetic Information Diploid cells therefore have two alleles for each gene (trait). These alleles might be identical (gene A) or different (gene B). Section 10.1 Karyotype CNRI/Science Source Figure 10.1 Chromosomes Are Packets of Genetic Information Each gene s locus is its location on a chromosome. Section 10.1 Karyotype CNRI/Science Source Figure
6 Mendel Uncovered Basic Laws of Inheritance Gregor Mendel used pea plants to study heredity. Section 10.2 Mendel Pixtal/age Fotostock Mendel Uncovered Basic Laws of Inheritance Hand pollinating plants allowed Mendel to control plant breeding experiments. Section 10.2 Figure 10.2 Mendel Uncovered Basic Laws of Inheritance Self fertilizing and cross fertilizing in different combinations allowed Mendel to deduce the principles of inheritance. Section 10.2 Figure
7 Mendel Uncovered Basic Laws of Inheritance True breeding plants produce offspring identical to themselves. Section 10.2 Figure 10.3 Mendel Uncovered Basic Laws of Inheritance Dominant alleles exert their effects whenever they are present. Crossing a yellow seed plant with a green seed plant always yields some yellow seeds. Yellow seed color is therefore dominant. Section 10.2 Figure 10.4 Dominant Alleles Dominant alleles will always be expressed if present and only one dominant allele of the pair inherited is needed for that trait to appear. 7
8 Mendel Uncovered Basic Laws of Inheritance A recessive allele is one whose effect is masked if a dominant allele is also present. Recessive alleles usually encode nonfunctional proteins. Section 10.2 Figure 10.4 Recessive Alleles Recessive alleles can be hidden and not expressed and to appear both alleles inherited must be recessive. Mendel Uncovered Basic Laws of Inheritance If yellow seed color is dominant, why are some seeds green when a yellow seed plant is crossed with a green seed plant? We need more information before we can fully answer this question. Section 10.2 Figure
9 Mendel Uncovered Basic Laws of Inheritance The answer has to do with each plant having two alleles for each gene (because of their homologous pairs of chromosomes). Section 10.2 Figures 10.4, 10.5 Mendel Uncovered Basic Laws of Inheritance A genotype represents an individual s two alleles for one gene. The genotype confers a phenotype, or observable characteristic. Section 10.2 Figures 10.4, 10.5 Genotype Genotype refers to the actual genes (DNA) of an individual. A genotype is called: Homozygous if the two alleles for the trait are the same. Example using letters for alleles: EE or ee Heterozygous if the two alleles for the trait are different. Example using letters for alleles: Ee 9
10 Genotype and Alleles Letters are used to represent the different allele forms. Capital or uppercase letters are used for dominant alleles. Lowercase letters are used for recessive alleles. 28 Phenotype Phenotype refers to the physical appearance or the expression of the genotype. Examples: (red hair, brown eyes, blood type B, yellow peas) 29 Mendel Uncovered Basic Laws of Inheritance Homozygous dominant individuals have two dominant alleles for a gene. Section 10.2 Figures 10.4,
11 Mendel Uncovered Basic Laws of Inheritance Heterozygous individuals have one dominant and one recessive allele. Section 10.2 Figures 10.4, 10.5 Mendel Uncovered Basic Laws of Inheritance Homozygous recessive individuals have two recessive alleles. Section 10.2 Figures 10.4, 10.5 Mendel Uncovered Basic Laws of Inheritance It is possible to look at offspring to determine the genotype of the parent. As we ll see, Punnett squares help solve these puzzles. Section 10.2 Figures 10.4,
12 Mendel Uncovered Basic Laws of Inheritance Light bulbs are a simple analogy for homozygous dominant, heterozygous, and homozygous recessive genotypes. Section 10.2 Figure Mendel Uncovered Basic Laws of Inheritance Nonfunctional light bulbs are equivalent to the nonfunctional proteins that recessive alleles encode. Section 10.2 Figure Mastering Concepts Distinguish between dominant and recessive; heterozygous and homozygous; phenotype and genotype; wild type and mutant. 12
13 Punnett Square In, 1905, Reginald Punnett devised a short hand way of finding the expected proportions of possible genotypes and phenotypes in offspring. This method is called a Punnett square. 37 Punnett Square A Punnett square is useful for determining the possible outcomes of a genetic cross. The outside of the square will have the possible types of alleles in the gametes. The inside will show the possible allele pairs in offspring after fertilization. 38 A Punnett square uses the genotypes of the parents to reveal which alleles the offspring may inherit. Figure
14 In this example, a female parent that is heterozygous for seed color is crossed with a male parent that is also heterozygous for seed color. Figure 10.6 This is a monohybrid cross since both parents are heterozygous for the one gene being evaluated. Figure 10.6 Genotype Gg indicates that all diploid cells, including germ cells, in these parents have both dominant and recessive seed color alleles. Figure
15 When germ cells divide by meiosis, chromosomes (and the alleles on those chromosomes) are randomly distributed among gametes. Figure 10.6 A gamete from the female parent and a gamete from the male parent then unite at fertilization. Figure 10.6 If both gametes carry dominant alleles, the offspring will inherit two dominant alleles. Figure
16 If one gamete carries a dominant allele and the other carries a recessive allele, the offspring will be heterozygous. Figure 10.6 If one gamete carries a dominant allele and the other carries a recessive allele, the offspring will be heterozygous. Figure 10.6 If both gametes carry recessive alleles, the offspring will inherit two recessive alleles. Figure
17 This Punnett square therefore represents all possible offspring that might result from these parents. Figure 10.6 This Punnett square also shows the relative proportion of the offspring phenotypes and genotypes. Figure 10.6 On average, three offspring will have yellow seeds for every one with green seeds. Figure
18 On average, one offspring will have genotype GG for every two with Gg and for every one with gg. Figure 10.6 Punnett squares allow us to determine the genotypes of these yellow seed pea plants. Figures 10.4, 10.5 Punnett squares also help us answer this question: If yellow seed color is dominant, why are some seeds green when a yellow seed plant is crossed with a green seed plant? Figures 10.4,
19 Punnett squares also help us answer this question: If yellow seed color is dominant, why are some seeds green when a yellow seed plant is crossed with a green seed plant? Figures 10.4, 10.5 If a cross between a yellowseed pea plant (GG or Gg) and a green seed pea plant (gg) yields all yellow seeds, the yellow seed parent is homozygous dominant. Figures 10.5, 10.8 If the cross yields some green seeds, the yellow seed parent is heterozygous. Figures 10.5,
20 Meiosis Explains Mendel s Law of Segregation Punnett squares summarize meiosis and fertilization. Figure 10.9 Meiosis Explains Mendel s Law of Segregation The two alleles for the G gene are packaged into separate gametes, which then combine at random. Figure 10.9 Meiosis Explains Mendel s Law of Segregation Can you create a Punnett square representing the information in this figure? Figure
21 Mendel s Law Applied to Humans Punnett squares are also useful for tracking the inheritance of genetic disorders, such as cystic fibrosis. Cystic fibrosis treatment ZUMA Wire Service/Alamy Figure Question #1 Cystic fibrosis is caused by a recessive allele. If a healthy carrier and an affected individual have a child, what is the chance the child will be affected? A. 1/4 B. 1/3 C. 1/2 D. 3/4 E. 1 ANSWER Cystic fibrosis is caused by a recessive allele. If a healthy carrier and an affected individual have a child, what is the chance the child will be affected? A. 1/4 B. 1/3 C. 1/2 D. 3/4 E. 1 21
22 Mendel's Law of Independent Assortment Illustrated by the DIHYBRID cross The second law describes the outcome of dihybrid (two character) crosses, or hybrid crosses involving additional characters. A dihybrid is an individual that is a double heterozygote (e.g., with the genotype RrYy - round seed, yellow seed). What are the gametes that can be produced by this individual? ANSWER: RY Ry ry ry Dihybrid Crosses Track the Inheritance of Two Genes at Once Two genes on different chromosomes can be combined into one large Punnett square. Section 10.4 Figure Alleles Separate During Meiosis Based on dihybrid crosses, Mendel proposed the law of independent assortment: the segregation of alleles for one gene does not influence the segregation of alleles for another gene. Section 10.4 Figure
23 The Product Rule Replaces Complex Punnett Squares Tracking two or more genes on one Punnett square is challenging and time consuming. The product rule simplifies these problems. Section 10.4 Figure The Product Rule Replaces Complex Punnett Squares The chance that two independent events will both occur, equals the product of the individual chances that each event will occur. Section 10.4 Figure The Product Rule Replaces Complex Punnett Squares The probability that an offspring inherits genotype Rr Gg Tt = probability of Rr x the probability of Yy x probability of Tt Section 10.4 Figure
24 Question A male with genotype Qq Bb Dd is crossed with a female with genotype qq bb dd. What proportion of the offspring will be homozygous recessive for all three genes? A. 1/2 B. 1/3 C. 1/4 D. 1/6 E. 1/8 Flower: Doug Sherman/Geofile/RF ANSWER A male with genotype Qq Bb Dd is crossed with a female with genotype qq bb dd. What proportion of the offspring will be homozygous recessive for all three genes? A. 1/2 B. 1/3 C. 1/4 D. 1/6 E. 1/8 Genes on the Same Chromosome Are Linked The product rule cannot be used if genes are linked, because inheriting one allele influences the likelihood of inheriting a linked allele. Section 10.5 Figure
25 Genes on the Same Chromosome Are Linked When genes are linked, inheriting one allele influences the likelihood of inheriting a linked allele. Section 10.5 Figure Genes on the Same Chromosome Are Linked However, because of crossing over, linked alleles are not always inherited together. Section 10.5 Figure Genes on the Same Chromosome Are Linked The probability of a crossover event occurring between two linked alleles is proportional to the distance between the genes. Section 10.5 Figure
26 Gene Expression Can Appear to Alter Mendelian Ratios So far we ve discussed genes with two alleles, in which the dominant allele masks the recessive allele. But gene expression does not always follow that pattern. Section 10.6 Figure Gene Expression Can Appear to Alter Mendelian Ratios So far we ve discussed genes with two alleles, in which the dominant allele masks the recessive allele. But gene expression does not always follow that pattern. Incomplete dominance Codominance Pleiotropy Section 10.6 Figure Incomplete Dominance and Codominance Add Phenotype Classes In incomplete dominance, the heterozygote has an intermediate phenotype. Section 10.6 Figure
27 Incomplete Dominance and Codominance Add Phenotype Classes The recessive allele (r 2 ) still encodes a nonfunctional protein. Section 10.6 Figure Incomplete Dominance and Codominance Add Phenotype Classes The heterozygote is pink because it receives half the dose of the red pigment conferred by the dominant allele. Section 10.6 Figure Incomplete Dominance and Codominance Add Phenotype Classes In codominance, more than one allele encodes a functional protein. Section 10.6 Figure
28 Incomplete Dominance and Codominance Add Phenotype Classes If two dominant alleles are present, both proteins encoded by those alleles will be represented in the phenotype. Section 10.6 Figure Incomplete Dominance and Codominance Add Phenotype Classes In human blood types, both I A and I B are dominant alleles. Genotype I A I B confers red blood cells with both A and B molecules. Section 10.6 Figure Incomplete Dominance and Codominance Add Phenotype Classes The I gene also has a recessive allele, i, which encodes a nonfunctional protein. But the two dominant alleles, I A and I B, make the I gene codominant. Section 10.6 Figure
29 Incomplete Dominance and Codominance Add Phenotype Classes While incomplete dominance and codominance may seem similar, they have an important difference. Section 10.6 Figure Incomplete Dominance and Codominance Add Phenotype Classes Let s say these light bulbs are proteins. In incomplete dominance, the heterozygote receives only one functional light bulb. In codominance, the heterozygote receives two functional but different light bulbs. Section 10.6 Figure One Gene, Many Phenotypes In pleiotropy, one gene has multiple effects on the phenotype. For example, a gene might affect more than one biochemical pathway. Gene Protein (enzyme) Section 10.6 A 1 A 2 A 3 Phenotype A + B 1 X B 2 B 3 Phenotype B + C 1 C 2 C 3 Phenotype C Biochemical pathways 29
30 One Gene, Many Phenotypes In this example, a gene encodes a protein that catalyzes reactions in two biochemical pathways and blocks another. Gene Protein (enzyme) Section 10.6 A 1 A 2 A 3 Phenotype A + B 1 X B 2 B 3 Phenotype B + C 1 C 2 C 3 Phenotype C Biochemical pathways One Gene, Many Phenotypes Marfan syndrome is an example of pleiotropy. Section 10.6 Marfan syndrome: Roger Kisby/Getty Images Figure Gene Protein Interactions Epistasis occurs when one gene s product affects the expression of another gene. Section 10.6 Figure
31 Gene Protein Interactions Expression of the h allele affects the expression of blood surface molecule genes. Section 10.6 Figure Sex Linked Genes Have Unique Inheritance Patterns In humans, females have two X chromosomes. Males have one X chromosome and one Y chromosome. Section 10.7 XX and XY chromosomes: Andrew Syred/Science Source Figure Sex Linked Genes Have Unique Inheritance Patterns This Punnett square shows that each fertilization event has a 50% chance of producing a female and a 50% chance of producing a male. Section 10.7 XX and XY chromosomes: Andrew Syred/Science Source Figure
32 Sex Linked Genes Have Unique Inheritance Patterns Which gamete, the sperm or the egg, determines the sex of the offspring? Section 10.7 XX and XY chromosomes: Andrew Syred/Science Source Figure Sex Linked Genes Have Unique Inheritance Patterns The egg will always carry an X chromosome. The sex chromosome in the sperm therefore determines if the offspring is female or male. Section 10.7 XX and XY chromosomes: Andrew Syred/Science Source Figure Sex Linked Genes Have Unique Inheritance Patterns X linked recessive disorders affect more males than females. Section 10.7 Figure
33 Sex Linked Genes Have Unique Inheritance Patterns Females must receive a recessive allele on both X chromosomes to express an X linked recessive disorder. Section 10.7 Figure Sex Linked Genes Have Unique Inheritance Patterns Males only have one X chromosome. To express a recessive disorder, they only need to inherit one X linked recessive allele. Section 10.7 Figure Question X H X h X h Hemophilia is a X linked recessive disorder. If an affected female (X h X h ) and an unaffected male (X H Y) have a boy, what is the chance he will have hemophilia? Y A. 0 B. 1/4 C. 1/2 D. 3/4 E. 1 33
34 ANSWER X h X h X H X H X h X H X h Y X h Y X h Y Hemophilia is a X linked recessive disorder. If an affected female and an unaffected male have a boy, what is the chance he will have hemophilia? A. 0 B. 1/4 C. 1/2 D. 3/4 E. 1 or 100% Sex Linked Genes Have Unique Inheritance Patterns Section 10.7 Table 10.2 Sex Linked Genes Have Unique Inheritance Patterns X inactivation prevents double dosing of gene products. Each cell in an XX individual, such as these female cats, randomly inactivates one X chromosome. Section 10.7 Calico kitten: Siede Preis/Getty Images RF Figure
35 Sex Linked Genes Have Unique Inheritance Patterns If one X chromosome has an allele for orange fur and the other has an allele for black fur, color patterns emerge when X chromosomes are randomly inactivated. Section 10.7 Calico kitten: Siede Preis/Getty Images RF Figure Pedigrees Show Modes of Inheritance A pedigree depicts family relationships and phenotypes. Section 10.8 Achondroplasia: Rick Wilking/Reuters/Corbis Figure Pedigrees Show Modes of Inheritance This pedigree tracks an autosomal dominant disorder. Section 10.8 Figure
36 Pedigrees Show Modes of Inheritance This pedigree tracks an autosomal recessive disorder. Section 10.8 Figure Pedigrees Show Modes of Inheritance This pedigree tracks an X linked recessive disorder. Note that more males are affected than females. Section 10.8 Figure The Environment Can Alter Phenotype Many genes are affected by the environment. For example, the enzyme responsible for pigment production in Siamese cat fur is active only in cool body parts. Section 10.9 Siamese cat: Carolyn A. McKeone/Science Source Figure
37 Some Traits Depend on Multiple Genes Skin color is a polygenic trait; it is affected by more than one gene. Section 10.9 Skin color: Sarah Leen/National Geographic Stock Figure
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