Albia Dugger Miami Dade College Cecie Starr Christine Evers Lisa Starr Chapter 13 Observing Patterns in Inherited Traits (Sections )

13.1 Menacing Mucus Cystic fibrosis is the most common fatal genetic disorder in the US – most CF patients live no more than 30 years The CFTR gene encodes a protein that moves chloride ions out of epithelial cells, and binds disease-causing bacteria A deletion, ΔF508, disrupts membrane trafficking and causes mucus to accumulate, making breathing difficult

CFTR Protein ATP-driven motors open a channel across the plasma membrane; people with CF inherit 2 copies of ΔF508

13.2 Mendel, Pea Plants, and Inheritance Patterns Gregor Mendel, an Austrian monk, carefully documented how certain traits in pea plants are inherited

Mendel’s Experimental Approach Mendel started with garden pea plants that “bred true” for a particular trait, meaning that trait stayed the same in all descendants, generation after generation When Mendel cross-fertilized pea plants with different traits, the traits of the offspring appeared in predictable patterns Mendel concluded that hereditary information is passed from one generation to the next in discrete units

Breeding Garden Peas

Fig. 13.2, p. 190 carpel C B In this example, pollen from a plant with purple flowers is brushed onto the carpel of a white- flowered plant. C Later, seeds develop inside pods of the cross-fertilized plant. An embryo in each seed develops into a mature pea plant. A Garden pea flower, cut in half. Male gametes form in pollen grains produced by the anthers, and female gametes form in carpels. Experimenters can control the transfer of hereditary material from one flower to another by snipping off a flower’s anthers (to prevent the flower from self-fertilizing), and then brushing pollen from another flower onto its carpel. D Every plant that arises from this cross has purple flowers. Predictable patterns such as this offer evidence of how inheritance works. B D A anther Breeding Garden Peas

Fig. 13.2a.1, p. 190 Breeding Garden Peas

Fig. 13.2a.2, p. 190 carpel A anther A Garden pea flower, cut in half. Male gametes form in pollen grains produced by the anthers, and female gametes form in carpels. Experimenters can control the transfer of hereditary material from one flower to another by snipping off a flower’s anthers (to prevent the flower from self-fertilizing), and then brushing pollen from another flower onto its carpel. Breeding Garden Peas

Fig. 13.2b-d, p. 190 C B In this example, pollen from a plant with purple flowers is brushed onto the carpel of a white-flowered plant. C Later, seeds develop inside pods of the cross-fertilized plant. An embryo in each seed develops into a mature pea plant. D Every plant that arises from this cross has purple flowers. Predictable patterns such as this offer evidence of how inheritance works. B D Breeding Garden Peas

ANIMATION: Crossing garden pea plants To play movie you must be in Slide Show Mode PC Users: Please wait for content to load, then click to play Mac Users: CLICK HERECLICK HERE

Inheritance in Modern Terms Today, we know that individuals of a species share certain traits because their chromosomes carry the same genes The DNA sequence of each gene occurs at a specific location (locus) on a particular chromosome locus Location of a gene on a chromosome

Loci of Some Human Genes

Fig. 13.3, p. 191 ribosomal RNA skin pigmentation (green-deficient color blind) X (red-deficient color blind) (hemophilia A) (hemophilia B) XIST X chromosome inactivation control IL2RG (SCID-X1) LH, β chain HCG, β chain (Warfarin resistance) green/blue eye color brown hair color insulin receptor (Tay–Sachs disease) BRCA1 (breast, ovarian cancer) Growth hormone fibrillin 1 (Marfan syndrome) NF1 (neurofibromatosis) p53 tumor antigen (Canavan disease) GHRH (acromegaly) dystrophin (muscular dystrophy) (anhidrotic ectodermal dysplasia) prion protein (Creutzfeldt– Jakob disease) LDL receptor (coronary artery disease) oxytocin serotonin transporter Loci of Some Human Genes

Modern Terms (cont.) Diploid cells have pairs of genes, on pairs of homologous chromosomes The two genes of a pair may be identical (homozygous), or they may be slightly different alleles (heterozygous) homozygous Having identical alleles of a gene heterozygous Having two different alleles of a gene

Genes on Chromosomes Any pair of genes on homologous chromosomes may vary as alleles Different alleles may result in different versions of a trait

Fig. 13.4, p. 191 The members of each pair of genes may be identical, or they may differ slightly, as alleles. Genes occur in pairs on homologous chromosomes. Genes on Chromosomes

ANIMATION: Genetic terms To play movie you must be in Slide Show Mode PC Users: Please wait for content to load, then click to play Mac Users: CLICK HERECLICK HERE

Modern Terms (cont.) The particular set of alleles that an individual carries is their genotype, and their observable traits, such as flower color, make up their phenotype genotype The particular set of alleles carried by an individual phenotype An individual’s observable traits

Modern Terms (cont.) Offspring resulting from a cross, or mating, between homozygous individuals with different traits are hybrids Often, expression of one allele influences expression of the other, and the outcome is visible in the hybrid phenotype hybrid Offspring of a cross between two individuals that breed true for different forms of a trait; a heterozygous individual

Modern Terms (cont.) An allele is dominant when its effect masks that of a recessive allele paired with it dominant An allele that masks the effect of a recessive allele paired with it (indicated by italic capital letters: A) recessive An allele whose effect is masked by a dominant allele on the homologous chromosome (italic lowercase: a)

Key Concepts Where Modern Genetics Started Gregor Mendel gathered evidence of the genetic basis of inheritance His meticulous work gave him clues that heritable traits are specified in units The units, which are distributed into gametes in predictable patterns, were later identified as genes

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13.3 Mendel’s Law of Segregation When Mendel crossed plants that bred true for purple flowers with plants that bred true for white flowers, all of the offspring had purple flowers A pea plant with two P alleles (PP) has purple flowers, and one with two p alleles (pp) has white flowers The allele for purple (P) is dominant over the allele for white (p), so the heterozygote (Pp) also has purple flowers

Law of Segregation (cont.) When homologous chromosomes separate during meiosis, the gene pairs on those chromosomes separate also Each gamete that forms carries only one gene of a pair Homozygous dominant plants (PP) make (P) gametes Homozygous recessive plants (pp) make (p) gametes Heterozygous plants (Pp) make equal numbers of (P) and (p) gametes

Law of Segregation (cont.) When homozygous dominant and homozygous recessive plants are crossed (PP X pp), only one outcome is possible A gamete with a P allele meets a gamete with a p allele, and all first generation (F 1 ) offspring will be heterozygous Genotype = Pp Phenotype = purple

Gene Segregation

Fig , p. 192 zygote (Pp) gametes (p) meiosis II gametes (P) DNA replication meiosis I 1 2 3

Fig. 13.5, p. 192 Stepped Art gametes (p) meiosis II gametes (P) DNA replication meiosis I 1 2 zygote (Pp) 3 female gametes male gametes 4 Gene Segregation

Punnett Squares Punnett square Diagram used to predict the genetic and phenotypic outcome of a cross

Fig , p. 192 male gametes female gametes 4 Punnett Squares

Testcross Breeding experiments use testcrosses to determine whether the tested individual is heterozygous or homozygous testcross Method of determining genotype in which an individual of unknown genotype is crossed with one that is known to be homozygous recessive

Monohybrid Cross Another breeding experiment, a monohybrid cross, checks the dominance relationship for a single trait monohybrid cross Breeding experiment in which individuals identically heterozygous for one gene are crossed Frequency of traits among offspring offers information about the dominance relationship between the alleles

A Monohybrid Cross In a monohybrid cross between two Pp plants (Pp X Pp), the two types of gametes can meet in four possible ways: Sperm P meets egg P → zygote genotype PP Sperm P meets egg p → zygote genotype Pp Sperm p meets egg P → zygote genotype Pp Sperm p meets egg p → zygote genotype pp The probability that second-generation (F 2 ) offspring will have purple flowers is 3 purple to 1 white, or a ratio of 3:1

A Monohybrid Cross

Fig. 13.6, p. 193 two types of gametes Pp hybrid parent plant homozygous for white flowers B A cross between the F 1 offspring is a monohybrid cross. The phenotype ratio in F 2 offspring in this example is 3:1 (3 purple to 1 white). parent plant homozygous for purple flowers A Monohybrid Cross

Fig. 13.6a, p. 193 A Monohybrid Cross

Fig. 13.6a, p. 193 two types of gametes Pp hybrid parent plant homozygous for white flowers parent plant homozygous for purple flowers pP PP pp A Monohybrid Cross

Fig. 13.6b, p. 193 A Monohybrid Cross

Fig. 13.6b, p. 193 B A cross between the F 1 offspring is a mono- hybrid cross. The phenotype ratio in F 2 offspring in this example is 3:1 (3 purple to 1 white). A Monohybrid Cross

PP Fig. 13.6, p. 193 Stepped Art Pp pp B A cross between the F 1 offspring is a monohybrid cross. The phenotype ratio in F 2 offspring in this example is 3:1 (3 purple to 1 white). P p p P two types of gametes Pp hybrid parent plant homozygous for white flowers parent plant homozygous for purple flowers p pp P PP A All of the F 1 offspring of a cross between two plants that breed true for different forms of a trait are identically heterozygous. These offspring make two types of gametes: P and p A Monohybrid Cross

ANIMATIONs: Monohybrid cross To play movie you must be in Slide Show Mode PC Users: Please wait for content to load, then click to play Mac Users: CLICK HERECLICK HERE

Traits of Pea Plants Mendel found that all these traits of pea plants were inherited in the same pattern in F 1 and F 2 generations

Mendel’s Law of Segregation The 3:1 phenotype ratios in F 2 offspring of monohybrid crosses became the basis of Mendel’s law of segregation law of segregation The two members of each pair of genes on homologous chromosomes end up in different gametes during meiosis

Key Concepts Insights From Monohybrid Crosses During meiosis, pairs of genes on homologous chromosomes separate and end up in different gametes Inheritance patterns of alleles associated with different forms of a trait can be used as evidence of such gene segregation

Animation: Testcross