Transcript for:
Understanding Population Evolution and Genetics

Title: Topic 7 Evolution of Populations URL Source: file://pdf.bd3928638282a2bf264eb5ea7de3e727/ Markdown Content: BIOL 108 Winter 2025 2025 Neil Harris Topic 7: Evolution of populations Natural selection acts on individuals, but only populations evolve via natural selection. A population is the smallest unit of evolutionary change. A population is a group of individuals of the same species that live in the same area and interbreed, producing fertile offspring. Microevolution is the change in allele frequencies in populations over generations. 1BIOL 108 Winter 2025 2025 Neil Harris Genetics terminology: a brief review A gene (or more accurately, genetic locus) consists of two alleles in diploid individuals. Alleles are different forms of a gene, corresponding to different DNA sequences in each form. One allele per chromosome. In sexually reproducing diploid species, one chromosome from each parent. Each allele remains separate and does not blend. Apparent blending is the result of incomplete dominance. 2BIOL 108 Winter 2025 2025 Neil Harris Microevolution & allele frequencies Microevolution is the change in allele frequencies in populations over generations. A population is a localized group of individuals of a single species that interbreed (share alleles) and produce fertile offspring. Individuals represent different combinations of alleles drawn from the gene pool, that is, from all the alleles present in all individuals in the population. Different populations of the same species may be geographically isolated and, thus, have distinct gene pools (e.g. Fig 23.6 Yukon caribou populations). 3 Generation 1 Generation 2 The gene pool consists of all alleles for all individuals in the populationBIOL 108 Winter 2025 2025 Neil Harris Genetic variation makes evolution possible Variation in heritable traits is a prerequisite for evolution. Genetic diversity (variation) is one of the three main components of biodiversity. Genetic variation is advantageous to a population because it enables the population to adapt to the environment via natural selection. Genetic variation among individuals is caused by differences in genes or other DNA segments. Individuals have a specific genotype (combination of alleles). Phenotype is a product of inherited genotype and environmental influences. Natural selection can only act on variation with a genetic component. Not all phenotypic variation is heritable. 4 Fig 23.5 Nonheritable variation: Moth caterpillars have different appearances due to chemicals in their diet (oak flowers (a) vs. oak twigs (b))BIOL 108 Winter 2025 2025 Neil Harris Sources of genetic variation New genes and alleles arise by mutation or gene duplication. 1. Mutations are changes in an individuals DNA sequence. Causes: i) small-scale (e.g. point mutation) or chromosomal (e.g. insertion/deletion) errors in DNA replication; ii) structural damage to DNA (e.g. radiation). Only mutations in cells that produce gametes (eggs or sperm) can be passed on to the next generation. Mutations occur randomly. Selection pressures do not cause beneficial mutations. Mutations create new alleles. Without mutations, there would be no new genetic material for natural selection or other evolutionary processes to act upon. 5 Cornish Rex cat breed arose from one mutant kitten in 1950 (small, single-gene mutation) WCBIOL 108 Winter 2025 2025 Neil Harris Sources of genetic variation 1. Mutations are changes in an individuals DNA sequence. Chromosomal mutations that delete, disrupt, or rearrange many loci are typically harmful. Duplication of small DNA segments increases genome size and is usually less harmful. Duplication of DNA segments can result in duplication of genes that can take on new functions by further mutation. Whole-genome duplication, a process of genome doubling, is an important driver of evolution by supplying genetic material and increasing genome complexity. 6 A single mutation can have no effect (no change in phenotype) or can have a large effect (lethal). Most mutations have negligible effect. Mutations can be deleterious (bad), neutral, or advantageous (good) in the current environment. e.g. a neutral mutation may later be advantageous or disadvantageous if the environment changes, i.e. selective pressures change. Most mutations within a given environment are neutral or slightly deleterious.BIOL 108 Winter 2025 2025 Neil Harris Sources of genetic variation While mutations are the source of new alleles, mutations occur relatively infrequently in populations. Mutation rates are low in animals and plants. Human genomes accumulate ~60- 100 new mutations per generation. Mutation rates are much lower in prokaryotes. However, mutations accumulate quickly in prokaryotes because they have very short generation times. Although the immediate contribution of mutations to genetic variation is small, their long-term effects are significant. Most evolutionary change is based on the long-term accumulation of many mutations with small individual effects. 7 1. Mutations are changes in an individuals DNA sequence.BIOL 108 Winter 2025 2025 Neil Harris Sources of genetic variation 2. Sexual reproduction amplifies genetic variation by creating new combinations of existing alleles. Random mating between organisms; random fertilization. Recombination of homologous chromosomes during meiosis shuffles existing genetic material to create new combinations of alleles. Recombination is often more impactful than mutation in generating genetic variation within sexually reproducing populations over short timescales. 8 Chromosomes recombination is a source of variation https://evolution.berkeley.edu/ Recombination shuffles mutations to produce new sequencesBIOL 108 Winter 2025 2025 Neil Harris Factors that alter allele frequencies in populations Natural selection, genetic drift, and gene flow are the mechanisms that cause changes in allele frequencies in populations. Non-adaptive evolution is any change in allele frequency that does not lead a population to become more adapted to its environment. Genetic drift and gene flow cause non-adaptive evolution since their effect on allele frequencies is primarily random. Mutations and recombination are also non-adaptive since they dont impact allele frequencies in populations. 9 Natural selection causes adaptive evolution, where a population becomes more adapted to its environment under natural selection.BIOL 108 Winter 2025 2025 Neil Harris Factors that alter allele frequencies in populations 1. Natural selection Only natural selection causes adaptive evolution (adaptation). Adaptation: feature or trait (selected through natural selection) that provides an advantage (higher relative fitness) to an individual possessing it. Relative fitness is the contribution an individual makes to the gene pool of the next generation, relative to the contributions of other individuals. Natural selection acts on existing variation. Differential reproductive success of individuals in a population results in the alleles of those individuals being passed to the next generation in greater proportions. Three modes of natural selection (Fig 23.13): Directional selection Disruptive selection Stabilizing selection 10BIOL 108 Winter 2025 2025 Neil Harris Natural selection Directional selection Directional selection favours individuals that differ from the current mean phenotype of a population in one direction. Under directional selection, a populations genetic variance shifts toward a new phenotype with higher relative fitness when exposed to selection pressures. Directional selection occurs in response to consistent selective pressure, i.e. a steady change in the environment. The frequency distribution of phenotype shifts under directional selection. Directional shift in the mean of the population. Directional selection does not change the range of genetic variation in a population over short timescales. 11 Directional selection for greater beak depth in the medium ground finch during drought on Daphne Major, a small Galpagos island 1976: Before selection N = 751 (all birds on island) 1977: After selection N = 90 (survivors) Beak depth (mm) Number of finchesBIOL 108 Winter 2025 2025 Neil Harris Natural selection Disruptive selection Disruptive selection favours individuals at both extremes of the phenotypic range. Intermediate (average) phenotypes have lower fitness than either extreme phenotype. Often results in two or more divergent phenotypes. Disruptive selection maintains genetic variation in populations. Example: disruptive selection for beak size in the black-bellied seedcracker (Pyrenestes ostrinus) of West Africa. The black-bellied seedcracker population has divergent diets and feeding efficiencies on their principal food, sedge seeds (Scleria spp.). Small-beaked birds specialize on soft- seeded species, while large-beaked birds specialize on hard-seeded species. Juvenile birds that survive have either relatively small or relatively large beaks. Birds with intermediate beak size cannot use either seed type efficiently and survive poorly. 12 Small-beaked female morph feeding on soft-seeded sedge Large-beaked male morph feeding on hard-seeded sedge Photos: T. Smith https://go.nature.com/2KeaOHs Redrawn from: Smith (1993). Disruptive selection and the genetic basis of bill size polymorphism in the African finch Pyrenestes. Nature 363: 618-620; https://doi.org/10.1038/363618a0BIOL 108 Winter 2025 2025 Neil Harris Natural selection Stabilizing selection Stabilizing selection favours intermediate or common phenotypes by selecting against extreme phenotypes that deviate from the current population mean. Individuals with intermediate phenotypes have higher fitness. Stabilizing selection reduces genetic variation in a population and maintains the populations mean phenotype. Little or no evolutionary change in the population. Stabilizing selection is very common: it removes deleterious mutations (removes individuals with lower fitness). Stabilizing selection conserves functional genetic features by selection against deleterious variants, which are typically uncommon. 13 Stabilizing selection for birth weight in humans: mortality is higher for very small babies and for very large babies Selection against extreme phenotypesBIOL 108 Winter 2025 2025 Neil Harris Factors that alter allele frequencies in populations 2. Genetic drift Genetic drift is random changes in allele frequencies in a population. Allele frequencies drift (fluctuate unpredictably) from one generation to the next. Genetic drift is more likely in small populations. The smaller the sample, the greater the chance of deviation from a predicted result. Rare alleles are more likely to be lost due to genetic drift. Reduces genetic variation in a population through loss of alleles. Genetic drift causes evolutionary change but does not create adaptations (non-adaptive). 14BIOL 108 Winter 2025 2025 Neil Harris Genetic drift has large effects on small populations Genetic drift of a neutral allele (frequency = 0.5) in 3 populations over 100 generations 0 0.2 0.4 0.6 0.8 1 0 20 40 60 80 100 Allele frequency Generations Population size = 4 0 0.2 0.4 0.6 0.8 1 0 20 40 60 80 100 Allele frequency Generations Population size = 40 0 0.2 0.4 0.6 0.8 1 0 20 40 60 80 100 Allele frequency Generations Population size = 400 Allele fixed (present in all individuals in population) Allele extinct (lost from population) Very small populations: alleles lost or fixed in a few generations Midsized populations: drift is less dramatic Large populations: no alleles lost or fixed 15BIOL 108 Winter 2025 2025 Neil Harris 0 0.2 0.4 0.6 0.8 1 0 20 40 60 80 100 Allele frequency Generations Initial allele frequency = 0.5 Rare alleles are more likely to be lost due to genetic drift Genetic drift of a neutral allele in 3 populations (n = 40) over 100 generations 0 0.2 0.4 0.6 0.8 1 0 20 40 60 80 100 Allele frequency Generations Initial allele frequency = 0.1 Rare alleles lost in a few generations 16BIOL 108 Winter 2025 2025 Neil Harris Genetic drift examples Bottleneck effect The bottleneck effect is a sudden reduction in population size due to a change in the environment. Population size is reduced within its natural range. e.g. a catastrophe destroys most of the populations habitat. Large population few individuals. Only these few individuals contribute alleles to the next generation. Allele frequency in the next generation is different than the previous generation. If the population remains small, it may be further affected by genetic drift. 17 Fig 23.10 The bottleneck effect Low genetic diversity in Cheetahs was caused by a bottleneck in last ice age (~10k years ago) and by more recent poaching WCBIOL 108 Winter 2025 2025 Neil Harris Genetic drift examples Bottleneck effect Greater prairie chickens once lived throughout Canadian and US prairies. Extirpated in Canada. Loss of prairie habitat caused a severe reduction in the population of greater prairie chickens (bottleneck). Some populations remain throughout US prairie states. The bottleneck reduced genetic variation in the surviving populations (loss of genetic diversity), resulting in loss of fertility (<50% of eggs hatched). 18 Fig 23.11 Genetic drift and loss of genetic variation Greater prairie chicken WCBIOL 108 Winter 2025 2025 Neil Harris Genetic drift examples Founder effect The founder effect occurs when a few individuals become isolated from a larger population. Allele frequency in the original large population is unchanged. The small founding population has a small fraction of the total gene pool present in the original population. Allele frequencies in the small founder population differ from those in the larger originating population. e.g. increased frequency of Huntingtons Disease in human populations founded by small groups of European migrants. 19 founder effect continent 1 : 1 : 1 3 : 1 : 0BIOL 108 Winter 2025 2025 Neil Harris 0 0.2 0.4 0.6 0.8 1 0 20 40 60 80 100 Allele frequency Generations Summary: effects of genetic drift 1. Genetic drift has the largest impact on small populations. 2. Genetic drift causes allele frequencies to change at random. 3. Genetic drift can lead to a loss of genetic variation within populations. 4. Genetic drift can cause harmful alleles to become fixed in small populations. 20 0 0.2 0.4 0.6 0.8 1 0 20 40 60 80 100 Allele frequency Generations Fixation of rare alleles in 4 / 100 populations Fixation of rare alleles in 0 / 100 populations Population size = 40 Initial allele frequency = 0.1 Population size = 400 Initial allele frequency = 0.1BIOL 108 Winter 2025 2025 Neil Harris Factors that alter allele frequencies in populations 3. Gene flow Gene flow is the movement of alleles between populations of a species. Alleles can be transferred through the movement of fertile individuals (e.g. dispersal of animals or seeds) or gametes (e.g. pollen). Gene flow can introduce new variation into the receiving population. Counteracts genetic drift but may slow adaptation of the receiving population. Gene flow reduces variation between populations over time. Populations become more similar (homogenous) to each other. 21 Gene flow is an important agent of evolutionary change in human populationsBIOL 108 Winter 2025 2025 Neil Harris Gene flow 22 4 alleles4 alleles 6 alleles Gene flow increases genetic variation within receiving population 0/4 alleles shared with A0/4 alleles shared with B Population A Population B 4/6 alleles shared with B 4/6 alleles shared with A Gene flow decreases genetic variation between populations wing colour Large population with four equally common alleles for wing colour wing colourBIOL 108 Winter 2025 2025 Neil Harris Gene flow and local adaptation Gene flow can decrease the fitness of a receiving population. Occurs when the immigration of alleles that decrease fitness is more rapid than natural selection for alleles that increase fitness Gene flow continuously introduces maladaptive alleles into local populations. e.g. Fig 23.12: gene flow in Lake Erie water snake populations. Gene flow can increase the fitness of a receiving population. e.g. gene flow supplies new alleles to populations with limited genetic variation. Example: the spread of alleles for resistance to insecticides. Insecticides are used to target mosquitoes carrying diseases (e.g. malaria). Mosquito populations become insecticide-resistant via natural selection. The flow of insecticide resistance alleles into new populations causes an increase in fitness in the receiving population. 23BIOL 108 Winter 2025 2025 Neil Harris Evolutionary change Factors that alter allele frequencies in populations and bring about the most evolutionary change: 1. Natural selection (adaptive) 2. Genetic drift (non-adaptive) 3. Gene flow (non-adaptive) Other factors that bring about evolutionary change: Extirpation of populations reduces a species genetic diversity. Global extinction of a species (complete loss of genetic diversity). 24 Black-footed ferret: extirpated but reintroduced into Canada WC Extinct New Zealand Moa WCBIOL 108 Winter 2025 2025 Neil Harris How populations maintain genetic variation in spite of natural selection and genetic drift Neutral variation is genetic variation that does not confer a selective advantage or disadvantage. Natural selection does not affect the frequency of neutral mutations. Genetic variation in populations is maintained by: Mutation. Recombination (crossing-over of chromosomes during meiosis). Independent assortment (of alleles) during meiosis. Random mating between individuals (sexual reproduction). Random fertilization (sexual reproduction). Recessive alleles are hidden from selection in heterozygote individuals. Disruptive selection (natural selection). Gene flow (between populations). Balancing selection. 25BIOL 108 Winter 2025 2025 Neil Harris Balancing selection Balancing selection is a form of natural selection that maintains genetic diversity by favouring stable frequencies of multiple alleles in the gene pool of a population. Mechanisms of balancing selection include: Temporal or spatial variation Environmental conditions may change over time or vary across different geographic locations over the range of a population, e.g. dry areas vs wet areas. Different alleles may be favoured at different times or in different locations, promoting maintenance of alleles at intermediate frequencies. Heterozygote advantage Frequency-dependent selection 26BIOL 108 Winter 2025 2025 Neil Harris Balancing selection: heterozygote advantage Heterozygote advantage occurs when an organism with two different alleles of a particular gene (heterozygote) has a fitness advantage over an organism with two identical copies of either allele (homozygote). Natural selection will tend to maintain two or more alleles at that locus. The combination of different alleles provides an optimal balance, enhancing an individuals ability to adapt to diverse environmental conditions. Heterozygote advantage can result from stabilizing or directional selection. Example: Sickle cell disease A allele: normal hemoglobin and functional, round red blood cells. S allele: mutation induces hemoglobin aggregation, causing sickle cells, which causes chronic anemia. Sickle cell (S) allele causes mutations in hemoglobin but also confers malaria resistance. 27WCBIOL 108 Winter 2025 2025 Neil Harris Heterozygote advantage Sickle cell disease Heterozygous individuals (AS) have an advantage over homozygous individuals (AA and SS) in malarial regions. Relative fitness: Non-malarial regions: AA > AS > SS Malarial regions: AS > AA or SS 28 Result in presence of malariaPhenotypeGenotype Susceptible to malariaNormalAA Mild sickle cell disease, but protected from malaria Sickle cell traitAS Severe sickle cell diseaseSickle cell diseaseSS The body destroys sickleshaped red blood cells, along with parasites contained within Fig 23.18 Mapping malaria and the sickle-cell allele Plasmodium falciparum-infected red blood cell WCBIOL 108 Winter 2025 2025 Neil Harris Balancing selection: frequency-dependent selection Under frequency-dependent selection, the fitness of an allele depends on its frequency in the population. If the fitness of an allele increases as it becomes rarer or more common, this can lead to a dynamic equilibrium where no single allele dominates the population. Frequency-dependent selection usually results from interactions between species (predation, parasitism, or competition), or between individuals within species. Negative frequency-dependent selection: the fitness of an allele declines if it becomes too abundant in the population. When an allele becomes common due to selection, the fitness of that allele is reduced and selection favours rarer alleles. Alleles oscillate around equilibrium frequency to maintain genetic diversity in the population. Example: selection for approx. equal numbers of right- mouthed and left-mouthed phenotypes of scale-eating fish. 29 Fig 23.17 Frequency-dependent selection in scale- eating fish (Perissodus microlepis) in Lake TanganyikaBIOL 108 Winter 2025 2025 Neil Harris Why natural selection does not produce perfect organisms 1. Adaptations and the genes responsible for them only need to be good enough to enable reproduction. Natural selection increases fitness, but it produces systems that function no better than they must. It yields adequacy of adaptation rather than perfection. Bartholomew, 1986 2. Natural selection has no goals. Natural selection is not striving to produce progress or specific outcomes. 3. Natural selection only acts on existing variation. Natural selection does not create new optimal variations. Genetic variation (mutations) arises randomly. 4. Historical constraints limit natural selection. Prior adaptation may limit future adaptability when selective pressures change. 5. Adaptations are compromises. Populations are subject to multiple simultaneous, potentially opposing, selective pressures. 6. Chance events (genetic drift, gene flow) and environmental variability limit natural selection. 30