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Ch 16- Evolution of Populations • Natural selection acts on individuals, but only populations evolve. • Genetic variations in populations contribute to evolution. • Population genetics is the study of how populations change genetically over time and integrates Mendelian genetics with the Darwinian theory of evolution by natural selection. Gene Pools and Allele Frequencies • A population is a localized group of individuals capable of interbreeding and producing fertile offspring. • The gene pool is all the alleles in the population. •Microevolution is change in the genetic makeup of a population from generation to generation. • Peppered Moths are an example of microevolution. Before the Industrial Revolution light moths were more common than dark moths. Why? The Hardy-Weinberg Theorem • The Hardy-Weinberg theorem describes a population that is not evolving. • It states that frequencies of alleles and genotypes in a population’s gene pool remain constant from generation to generation, provided that only Mendelian segregation and recombination of alleles are at work. • If p and q represent the relative frequencies of the only two possible alleles in a population at a particular locus, then – p2 + 2pq + q2 = 1 – p+q=1 – And p2 and q2 represent the frequencies of the homozygous genotypes and 2pq represents the frequency of the heterozygous genotype LE 23-4 Generation 1 X CRCR genotype Generation 2 CWCW genotype Plants mate All CRCW (all pink flowers) 50% CW gametes 50% CR gametes come together at random Generation 3 25% CRCR 50% CRCW 50% CR gametes 25% CWCW 50% CW gametes come together at random Generation 4 25% CRCR 50% CRCW 25% CWCW Alleles segregate, and subsequent generations also have three types of flowers in the same proportions Conditions for Hardy-Weinberg Equilibrium • The Hardy-Weinberg theorem describes a hypothetical population. • In real populations, allele and genotype frequencies do change over time. • The five conditions for non-evolving populations are rarely met in nature: – – – – – Extremely large population size No gene flow No mutations Random mating No natural selection LE 23-5 Gametes for each generation are drawn at random from the gene pool of the previous generation: 80% CR (p = 0.8) 20% CW (q = 0.2) Sperm CR CW (20%) p2 pq 64% CRCR 16% CRCW (20%) CR (80%) CW Eggs (80%) qp 4% CWCW 16% CRCW q2 Hardy-Weinberg theorem • Counting Alleles – assume 2 alleles = B, b – frequency of dominant allele (B) = p – frequency of recessive allele (b) = q • frequencies must add to 1 (100%), so: p+q=1 BB Bb bb Hardy-Weinberg theorem • Counting Individuals – frequency of homozygous dominant: p x p = p2 – frequency of homozygous recessive: q x q = q2 – frequency of heterozygotes: (p x q) + (q x p) = 2pq • frequencies of all individuals must add to 1 (100%), so: p2 + 2pq + q2 = 1 BB Bb bb H-W formulas • Alleles: p+q=1 B • Individuals: p2 + 2pq + q2 = 1 BB BB b Bb Bb bb bb Using Hardy-Weinberg equation population: 100 cats 84 black, 16 white How many of each genotype? p2=.36 BB q2 (bb): 16/100 = .16 q (b): √.16 = 0.4 p (B): 1 - 0.4 = 0.6 2pq=.48 Bb q2=.16 bb What assume Must are the genotype populationfrequencies? is in H-W equilibrium! Using Hardy-Weinberg equation p2=.36 Assuming H-W equilibrium 2pq=.48 q2=.16 BB Bb bb p2=.20 =.74 BB 2pq=.64 2pq=.10 Bb q2=.16 bb Null hypothesis Sampled data How do you explain the data? Population Genetics and Human Health • We can use the Hardy-Weinberg equation to estimate the percentage of the human population carrying the allele for an inherited disease. • Two processes, mutation and sexual recombination, produce the variation in gene pools that contributes to differences among individuals Mutation • Mutations are changes in the nucleotide sequence of DNA. • Mutations cause new genes and alleles to arise. • The dominant allele is not always the most frequent allele. Point Mutations • A point mutation is a change in one base in a gene. • It is usually harmless but may have significant impact on phenotype. • Sickle Cell Anemia Application of H-W principle • Sickle cell anemia – inherit a mutation in gene coding for hemoglobin • oxygen-carrying blood protein • recessive allele = HsHs – normal allele = Hb – low oxygen levels causes RBC to sickle • breakdown of RBC • clogging small blood vessels • damage to organs – often lethal Sickle cell frequency • High frequency of heterozygotes – 1 in 5 in Central Africans = HbHs – unusual for allele with severe detrimental effects in homozygotes • 1 in 100 = HsHs • usually die before reproductive age Why is the Hs allele maintained at such high levels in African populations? Suggests some selective advantage of being heterozygous… Fig. 16.16 Malaria Single-celled eukaryote parasite (Plasmodium) spends part of its life cycle in red blood cells 1 2 3 Mutations That Alter Gene Number or Sequence • Chromosomal mutations that delete, disrupt, or rearrange many loci are typically harmful. • Gene duplication is nearly always harmful. • Down’s Syndrome Mutation Rates • Mutation rates are low in animals and plants. • The average is about one mutation in every 100,000 genes per generation. • Mutations are more rapid in microorganisms. Sexual Recombination • Sexual recombination is far more important than mutation in producing the genetic differences that make adaptation possible. • Three major factors alter allele frequencies and bring about most evolutionary change: – Natural selection – Genetic drift – Gene flow Natural Selection • Differential success in reproduction results in certain alleles being passed to the next generation in greater proportions. Genetic Drift • The smaller a sample, the greater the chance of deviation from a predicted result. • Genetic drift is changes of allele frequencies in the gene pool due to chance rather than selection. • Genetic drift tends to reduce genetic variation through losses of alleles. – Bottleneck Effect LE 23-7 CWCW CR CR CR CR CR CW Only 5 of 10 plants leave offspring CR CR CWCW CR CR CR CW CWCW CR CR CR CW CR CW CR CR CWCW CR CW CR C R CR CR CR CW Generation 1 p (frequency of CR) = 0.7 q (frequency of CW) = 0.3 Only 2 of 10 plants leave offspring CR CR CR C R CR CR CR CR CR CR CR CR CR CR C R CR C R CW CR CW Generation 2 p = 0.5 q = 0.5 CR CR CR CR Generation 3 p = 1.0 q = 0.0 The Bottleneck Effect • The bottleneck effect is a sudden change in the environment that may drastically reduce the size of a population. • The resulting gene pool may no longer be reflective of the original population’s gene pool. LE 23-8 Original population Bottlenecking event Surviving population The Founder Effect • The founder effect occurs when a few individuals become isolated from a larger population. (new island, moved to an isolated area) • It can affect allele frequencies in a population. Gene Flow • Gene flow consists of genetic additions or subtractions from a population, resulting from movement of fertile individuals or gametes. • Gene flow causes a population to gain or lose alleles. • It tends to make gene pools similar and reduces possibilities of allele frequency differences. Fig. 16.6 Genetic Variation • Genetic variation occurs in individuals in populations of all species. • It is not always heritable. LE 23-9 Map butterflies that emerge in spring: orange and brown Map butterflies that emerge in late summer: black and white Directional, Disruptive, and Stabilizing Selection • Selection favors certain genotypes by acting on the phenotypes of certain organisms. • Three modes of selection: – Directional – Disruptive – Stabilizing • Directional Selection – One extreme form of a trait is most successful in the environment; the moderate and other extreme forms are less successful. • Stabalizing Selection – The moderate form of a trait is most successful in the environment; BOTH extreme forms are less successful. • Disruptive Selection – Both extreme forms of a trait are most successful in the environment; the moderate form is less successful. Frequency of individuals LE 23-12 Original population Evolved population Directional selection Original population Phenotypes (fur color) Disruptive selection Stabilizing selection Balancing Selection • Balancing selection occurs when natural selection maintains stable frequencies of two or more phenotypic forms in a population. • Balancing selection leads to a state called balanced polymorphism. Heterozygote Advantage • Some individuals who are heterozygous at a particular locus have greater fitness than homozygotes. • Natural selection will tend to maintain two or more alleles at that locus. Heterozygote Advantage • In tropical Africa, where malaria is common: – homozygous dominant (normal) • die or reduced reproduction from malaria: HbHb – homozygous recessive • die or reduced reproduction from sickle cell anemia: HsHs – heterozygote carriers are relatively free of both: HbHs • survive & reproduce more, more common in population Hypothesis: In malaria-infected cells, the O2 level is lowered enough to cause sickling which kills the cell & destroys the parasite. Frequency of sickle cell allele & distribution of malaria • The sickle-cell allele causes mutations in hemoglobin but also confers malaria resistance. • It exemplifies the heterozygote advantage. LE 23-13 Frequencies of the sickle-cell allele 0–2.5% 2.5–5.0% 5.0–7.5% Distribution of malaria caused by Plasmodium falciparum (a protozoan) 7.5–10.0% 10.0–12.5% >12.5% Frequency-Dependent Selection • In frequency-dependent selection, the fitness of any morph declines if it becomes too common in the population. LE 23-14 On pecking a moth image the blue jay receives a food reward. If the bird does not detect a moth on either screen, it pecks the green circle to continue a new set of images (a new feeding opportunity). Parental population sample 0.6 Experimental group sample Phenotypic variation 0.5 0.4 Frequencyindependent control 0.3 0.2 0 Plain background Patterned background 20 40 60 Generation number 80 100 Sexual Selection • Sexual selection is natural selection for mating success. • It can result in sexual dimorphism, marked differences between the sexes in secondary sexual characteristics. • Intrasexual selection is competition among individuals of one sex for mates of the opposite sex. • Cat Fight • Intersexual selection occurs when individuals of one sex (usually females) are choosy in selecting their mates from individuals of the other sex. • Selection may depend on the showiness of the male’s appearance. Mating Dance The Evolutionary Enigma of Sexual Reproduction • Sexual reproduction produces fewer reproductive offspring than asexual reproduction, a so-called “reproductive handicap”.