Observing Patterns in Inherited Traits. Chapter 11

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1 Observing Patterns in Inherited Traits Chapter 11

2 Impacts, Issues: The Color of Skin Like most human traits, skin color has a genetic basis; more than 100 gene products affect the synthesis and deposition of melanins

3 11.1 Mendel, Pea Plants, and Inheritance Patterns Recurring inheritance patterns are observable outcomes of sexual reproduction Before the discovery of genes, it was thought that inherited traits resulted from a blend of parental characters

4 Mendel s Experimental Approach Mendel was a monk with training in plant breeding and mathematics He studied the garden pea (Pisum sativum), which breeds true for a number of traits

5 Garden Pea Plant: Self Fertilization and Cross-Fertilization

6 Terms Used in Modern Genetics Genes Heritable units of information about traits Parents transmit genes to offspring Each gene has a specific locus on a chromosome But remember, gene is a stretch of DNA Diploid cells (chromosome number 2n) have pairs of genes on homologous chromosomes

7 Terms Used in Modern Genetics A mutation is a permanent change in a gene May cause a trait to change Alleles are different molecular forms of a gene with each on a homologous chromosome they can be identical or non-identical in effect A hybrid has nonidentical alleles for a trait Offspring of a cross between two individuals that breed true for different forms of a trait are hybrids

8 Terms Used in Modern Genetics An individual with nonidentical alleles of a gene is heterozygous for that gene An individual with identical alleles of a gene is homozygous for that gene

9 Terms Used in Modern Genetics An allele is dominant if its effect masks the effect of a recessive allele paired with it Capital letters (A) signify dominant alleles; lowercase letters (a) signify recessive alleles Homozygous dominant (AA) Homozygous recessive (aa) Heterozygous (Aa)

10 Terms Used in Modern Genetics Gene expression The process by which information in a gene is converted to a structural or functional part of a cell or body Expressed genes determine traits Genotype is what is in the DNA (genes) Phenotype is the physical expression of the genes (what you see as the trait)

11 Terms Used in Modern Genetics Genotype The particular alleles an individual carries Phenotype An individual s observable traits

12 Terms Used in Modern Genetics P stands for parents, F for filial (offspring) F 1 : First generation offspring of parents F 2 : Second generation offspring of parents

13 11.1 Key Concepts Where Modern Genetics Started Gregor Mendel gathered the first experimental 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

14 11.2 Mendel s Law of Segregation Garden pea plants inherit two units of information for a trait, one from each parent Thus, when gametes are prepared, the two units are separated and either can, by chance alone, end up in the gamete

15 Testcrosses Testcross A method of determining if an individual is heterozygous or homozygous dominant An individual with unknown genotype is crossed with one that is homozygous recessive (AA x aa) or (Aa x aa) Phenotypes of result will indicate the genotype of the unknown parent

16 Monohybrid Experiments Monohybrid experiments Testcrosses that check for a dominance relationship between two alleles at a single locus May be crosses between true breeding (homozygous) individuals (AA x aa), or between identical heterozygotes (Aa x Aa)

17 Mendel s Monohybrid Experiments Mendel used monohybrid experiments to find dominance relationships among pea plant traits When he crossed plants that bred true for white flowers with plants that bred true for purple flowers, all F 1 plants had purple flowers When he crossed two F 1 plants, ¾ of the F 2 plants had purple flowers, ¼ had white flowers

18 Segregation of Alleles at a Gene Locus

19 Mendel s Monohybrid Experiments

20 Calculating Probabilities Probability A measure of the chance that a particular outcome will occur Punnett square A grid used to calculate the probability of genotypes and phenotypes in offspring Shows the genotypes for all possible offspring

21 Construction of a Punnett Square

22 Phenotype Ratios in a Monohybrid Experiment

23 Mendel s Law of Segregation Mendel observed a phenotype ratio of 3:1 in the F 2 offspring of his monohybrid crosses Consistent with the probability of the aa genotype in the offspring of a heterozygous cross (Aa x Aa) This is the basis of Mendel s law of segregation Diploid cells have pairs of genes on pairs of homologous chromosomes The two genes of each pair separate during meiosis, and end up in different gametes rather than both being in same gamete

24 11.2 Key Concepts Insights from Monohybrid Experiments Some experiments yielded evidence of gene segregation: When one chromosome separates from its homologous partner during meiosis, the alleles on those chromosomes also separate and end up in different gametes

25 11.3 Mendel s Law of Independent Assortment Mendel s law of independent assortment Many genes are sorted into gametes independently of other genes Really another way of stating that chromosomes with their genes are separated and independently go into resulting gametes but of course Mendel knew nothing of this and did not state it this way

26 Dihybrid Experiments Dihybrid experiments Tests for dominance relationships between alleles at two loci Individuals that breed true for two different traits are crossed (AABB x aabb) F 1 phenotype result is heterozygote AaBb F 1 cross is then AaBb x AaBb and F 2 phenotype ratio is 9:3:3:1 (four phenotypes) 9 A_B_; 3 A_bb ; 3 aab_; 1 aabb

27 Independent Assortment at Meiosis

28 Mendel s Dihybrid Experiments

29 Fig. 11-9c, p. 175

30 Mendel s Law of Independent Assortment Mendel s dihybrid experiments showed that units specifying one trait segregated into gametes separately from units for other traits Exception: Genes that have loci very close to one another on a chromosome tend to stay together during meiosis

31 11.3 Key Concepts Insights from Dihybrid Experiments Some experiments yielded evidence of independent assortment: Genes are typically distributed into gametes independently of other genes

32 11.4 Beyond Simple Dominance Mendel focused on traits based on clearly dominant and recessive alleles; however, the expression patterns of genes for some traits are not as straightforward

33 Codominance in ABO Blood Types Codominance Two nonidentical alleles of a gene are both fully expressed in heterozygotes, so neither is dominant or recessive May occur in multiple allele systems Example ABO blood types below Multiple allele systems Genes with three or more alleles in a population Example: ABO blood types A, B and AB are codominant; O is recessive A=I A I A or I A I O ; B=I B I B or I B I O ; AB=I A I B ; O=I O I O

34 Codominance in ABO Blood Types

35 Incomplete Dominance Incomplete dominance One allele is not fully dominant over its partner The heterozygote s phenotype is somewhere between the two homozygotes, resulting in a 1:2:1 phenotype ratio in F 2 offspring Example: Snapdragon color RR is red Rr is pink rr is white

36 Incomplete Dominance in Snapdragons

37 Epistasis Epistasis Two or more gene products influence a trait Typically, one gene product suppresses the effect of another Example: Coat color in dogs Alleles B and b designate colors (black or brown) Two recessive alleles ee suppress color

38 Epistasis in Coat Colors

39 Pleiotropy Pleiotropy One gene product influences two or more traits Example: Some tall, thin athletes have Marfan syndrome, a potentially fatal genetic disorder

40 11.5 Linkage Groups The farther apart two genes are on a chromosome, the more often crossing over occurs between them Linkage group All genes on one chromosome Linked genes are very close together; crossing over rarely occurs between them

41 Linkage and Crossing Over

42 The Distance Between Genes The probability that a crossover event will separate alleles of two genes is proportional to the distance between those genes

43 11.6 Genes and the Environment Expression of some genes is affected by environmental factors such as temperature, altitude, or chemical exposure The result may be variation in traits

44 Effects of Temperature on Gene Expression Enzyme tyrosinase, works at low temperatures It allows expression of melanin, a black color Note how ice pack allowed black color development above

45 Effects of Altitude on Gene Expression

46 11.7 Complex Variations in Traits Individuals of most species vary in some of their shared traits Many traits (such as eye color) show a continuous range of variation

47 Continuous Variation Continuous variation Traits with a range of small differences The more factors that influence a trait, the more continuous the distribution of phenotype Bell curve When continuous phenotypes are divided into measurable categories and plotted as a bar chart, they form a bell-shaped curve

48 Continuous Variation and the Bell Curve

49 Key Concepts Variations on Mendel s Theme Not all traits appear in Mendelian inheritance patterns An allele may be partly dominant over a nonidentical partner, or codominant with it Multiple genes may influence a trait; some genes influence many traits The environments also influences gene expression

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