Discontinuous Traits. Chapter 22. Quantitative Traits. Types of Quantitative Traits. Few, distinct phenotypes. Also called discrete characters

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1 Discontinuous Traits Few, distinct phenotypes Chapter 22 Also called discrete characters Quantitative Genetics Examples: Pea shape, eye color in Drosophila, Flower color Quantitative Traits Phenotype is described with a quantitative measurement Also called continuous characters Examples: Height, Blood Pressure, Seed weight Types of Quantitative Traits Continuous: Phenotypes limited only by precision of measurement Meristic: Phenotypes measured in whole numbers Eg. Number of eggs, number of bristles Threshold: Only two phenotypes, but underlying susceptibility is quantitative Eg. Diseases 1

2 From Genotype to Phenotype For Discontinuous Traits, the relationship between genotype and phenotype is relatively simple. Figure 22.1 From Genotype to Phenotype For Quantitative Traits, the relationship between genotype and phenotype can be complex Quantitative Traits Influenced by multiple genes Polygenic Inheritance Genes most likely on different chromosomes Influenced by environment Effect of Polygenic Inheritance Effect of the Environment Figure

3 In order to analyze quantitative traits, we must use STATISTICS Statistics Overview: Distributions Phenotypes on X axis, Frequencies on Y axis Statistics Overview: Mean Measure of central tendency (average) of a group of measurements X = ΣXi n 3

4 Statistics Overview: Variance Indicates the variability of a group of measurements s 2 = Σ(Xi X) 2 (n 1) Figure 22.8 The standard deviation (s) is simply the square root of the variance Statistics and Quantitative Traits Mean Changes in F1 Variance Changes in F2 Figure 22.9 Figure Heritability How much variation in a population is due to genetics? Phenotypic Variance Calculate the variance in the population (sample) Heritability is the proportion of phenotypic variation that is caused by genetic variation. V P 4

5 Components of Phenotypic Variance Variance due to Genetics: V G Genotype x Environment Interaction Phenotype of a given genotype is determined by the environment Variance due to the Environment: V GE V E Variance is Additive! V P = V G + V E + V GE Figure Heritability Broad Sense Heritability How much variation in a population is due to genetics? Heritability is the proportion of phenotypic variation that is caused by genetic variation. H 2 = V G V P 5

6 Broad Sense Heritability Proportion of Phenotypic Variance attributable to Genetic Variation. Ranges from 0 to 1 Components of Genetic Variance Genetic Variance can be decomposed into: Additive Genetic Variance Dominance Genetic Variance Epistatic Genetic Variance Additive Genetic Variance Dominance Genetic Variance V A V D Additive effects of genes on the phenotype INTRAgenic interaction (Dominance) effects on the phenotype Genic Interaction Variance Variance is Additive! V I INTERgenic interaction (Epistasis) effects on the phenotype V G = V A + V D + V I 6

7 Summary Equation: V P = V A + V D + V I + V E + V GE V G CAUTION! This model deals with the VARIANCE in a POPULATION This model says nothing about the absolute value of the trait. We still don t know anything about the underlying genetics of the trait. Narrow Sense Heritability Narrow Sense Heritability Proportion of Phenotypic Variance attributable to Additive Genetic Variation. Ranges from 0 to 1 h 2 = V A V P Additive genetic variation is primarily responsible for resemblance among relatives. Calculation of Heritability Estimation of Variance Components Parent Offspring Regression Degrees of Relatedness Estimation of Variance Components Set one Variance Component to zero: V E = 0 All organisms grown in a common environment Very difficult in practice V G = 0 Clonal lines or highly inbred lines (no genetic variation) Not possible with many organisms 7

8 Clonal Lines V P = V G + V E + V GE Clonal Lines Clonal Lines V P = V G + V E + V GE V G = 0, V GE = 0 No genetic variation: V P = V G + V E + V GE V G = 0, V GE = 0 No genetic variation: V P = V E Outbred Population: V P = V G + V E + V GE V G = V P - V E H 2 = V G V P This estimate from Clonal lines Estimation of Variance Components Difficult to eliminate environmental variance Not possible to make genetically identical individuals in all organisms Not a commonly used method 8

9 Parent Offspring Regression The slope of the regression is equal to the narrow sense heritability* Genetic variance is reflected in the fact that offspring resemble their parents Plot offspring phenotype against parental phenotype Single parent Mid Parent (Mean parent) Figure If the offspring phenotype is regressed on only ONE PARENT, then: h 2 = 2b b = h 2 = 0.7 Figure Degrees of Relatedness Twin Studies in Humans: Monozygotic Twins share 100% of their genes Dizygotic Twins share 50% of their genes H 2 = 2(r MZ r DZ ) Degrees of Relatedness Narrow Sense Heritability estimated using full sibs (50% genes in common) and half sibs (25% genes in common). Also called sib analysis This method is quite common 9

10 What Heritability Tells Us Proportion of phenotypic variance in a population that is due to (additive) genetic variation. Statistical prediction of offspring phenotype Response to selection (coming soon!) Limitations of Heritability Does NOT indicate the degree to which a trait is genetically determined. Heritability is a POPULATION measure. An individual does not have heritability! There is NO UNIVERSAL heritability for any trait. Specific to one population, in one environment Limitations of Heritability High heritability does not preclude environmental influence on a trait. Heritability indicates nothing about the nature of population differences. Heritability is a BLACK BOX BLACK BOX. It tells us nothing about the nature of the genetic variation it is measuring. 10

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