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What is population genetics? (3 and 3) |
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Allele frequencies Genotype frequencies Phenotype frequencies About microevolution Strongly dependant upon mathematical models A relatively young science |
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Factors causing genotype frequency changes (6) |
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Natural selection Mutation Random drift Migration Recombination Nonrandom mating |
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Decent with modification
Natural selection
Gemmules? |
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Gregor mENDEL (1822 – 1884) |
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Developed pure lines Counted his results and maintained statistical notes The hereditary determinants are of a discreet or particulate nature. These determinants are called genes. |
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Mendel's Principle of Segregation |
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The factors of inheritance (genes) normally are paired, but are separated or segregated in the formation of gametes (eggs and sperm). |
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Mendel's Principle of Independent Assortment |
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Each factor's distribution in the gametes is not related to the distribution of any other factor. |
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Mendel’s work was overlooked for forty years Following rediscovery, it was believed that Mendelian inheritance and Darwinian evolution were incompatible. |
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Biometricians vs. Mendelians |
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continuously varying traits and discontinuous variation |
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The big three (theorists) |
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R. A. Fisher (1890 – 1962)
J. B. S. Haldane (1892 – 1964)
Sewall Wright (1889 – 1988) |
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Fisher and Haldane were both strong Darwinians
Wright - Mr. Genetic Drift |
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Chromosome inherited equally from both parents |
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Long piece of DNA with many genes that assorts independently of genes on other chromosomes |
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Unit of inheritance that is transmitted from parents to offspring |
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Single copy of all the genes in an organism |
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The alleles at linked genes on a given copy of a chromosome |
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Physical proximity of genes on a single chromosome |
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Linkage disequilibrium (LD) |
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The statistical association of alleles at different loci |
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Place where a particular genes resides in the genome |
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Approximately equal to the percentage of recombination between two genese |
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Genes from Mother to daughter |
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Breaking and joining of chromosomes during meiosis |
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Enzyme coded for by a gene that has different allelic forms |
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Redundancy in the genetic code where more than one codon specifies a given AA |
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Noncoding region of a gene generally between or next to exons |
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Highly variable locus composed of short, tandem repeats (STR) of two to six nucleotides |
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group of closely related, often linked, genes |
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Nucleotide change that results in an AA change |
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Nucleotide base change that doesn't result in AA change |
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Gene that isn't translated, often because of a stop codon |
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Gene that isn't translated, often because of a stop codon |
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Single Nucleotides Polymorphism: nucleotide position that is variable in a population |
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Mutation from one purine to another, or from on pyrimidine to another |
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Mutation from a purine to a pyrimidine, or from pyrimidine to a purine |
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What is genetic variation? |
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Genetic variation is the variety of alleles and genotypes present in the group under study (population, species or group of species).
Polymorphism Heterozygosity Allelic diversity |
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To understand the influence of: Selection Inbreeding Genetic drift Gene flow Mutation |
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Genetic variation is required for populations to adapt to environmental change. |
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measured using an array of molecular and quantitative methods naturally outbreeding species populations and species of conservation concern |
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Annual weather cycles Fire regime Pollution Pesticide resistance Exotic species Global warming |
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Relationship between genetic variation and reproductive fitness |
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Low genetic variation in many species is related to reduced reproduction and survival (reproductive fitness). |
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Even sex ratio Non-overlapping generations Random (Poisson) variation in family size Constant population size (infinite) |
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Measuring genetic variation |
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Quantitative characters Deleterious alleles Proteins Karyotype DNA sequence |
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Martin Kreitman (1986) first extensive sequencing of DNA. Among 11 samples there were 43 variable sites across 2379 bp. Most do not change the AA sequence. Introns Exons Levels of genetic variation in nuclear DNA |
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Circular DNA molecules Maternally inherited |
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Low genetic diversity in endangered species |
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Endangered species usually have lower levels of genetic variation than non-endangered species. Reduced population size Effective population size (Ne) |
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What genetic diversity determines evolutionary potential? |
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Definition
Quantitative genetic variation for life history traits is the major determinant of evolutionary potential.
However, we have the least amount of information on this form of genetic variation and it is the most difficult to measure. |
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Variation over space and time |
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Spatial variation in genetic composition depends critically on rates of gene flow, population sizes and selection
Large populations typically show negligible change in genetic variation over tens of years.
Conversely, small populations typically lose genetic diversity rapidly over time.
Gst - Nei's coefficient of gene variation |
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What explains differences in levels of genetic diversity? |
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Definition
Historical and current population sizes Population bottlenecks Breeding system Natural selection Different mutation rates Immigration and emigration among populations Interactions among the above factors |
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Genetic differences among species |
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The genetic differences among species generally reflects their phylogeny or taxonomic divergence.
Differentiation among bird species is on average less that that among other vertebrate groups.
Species in the genus Drosophila typically show much greater genetic variation than primates currently placed in different taxonomic families. |
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Mutation Recombination Infinite alleles model Migration Neutral mutations Transposable elements |
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The ultimate source of genetic variation is mutation. Mutations include, Nucleotide change Chromosome rearrangement Inversion translocation |
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A to a at a rate of μ Initial frequency small if population is large Initial frequency is 1/2N Recurrent mutation (mutation pressure) |
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a to A at a rate of ν Mutation pressure is in both directions |
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Probability of fixation of a new allele |
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Assumption of an infinite population not realistic Mutation pressure Random sampling (over and underestimated alleles) |
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The infinite-alleles model |
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Definition
In principle, the number of alleles for any gene could be very large.
Hence, we suppose that that every new mutation creates an allele that does not already exist in the population.
In this model, two alleles that are identical by state must also be identical by descent. |
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Mutation – new alleles Drift determines their fate |
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Linkage and recombination |
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Presumed evolutionary benefit of recombination Recombination and polymorphism Selective sweep Hitchhiking |
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Absence of recombination in mtDNA |
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Maternally inherited Does not recombine Abundant 15 – 20 thousand bp Fewer than 40 genes |
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The movement of organisms among subpopulations One-way migration The island model of migration |
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How migration limits genetic divergence |
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Estimates of migration rates Patterns of migration |
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DNA sequence that can change its location Create novel genome rearrangements Pairs of transposable element can undergo recombination Transposase |
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Transposable elements: Population dynamics |
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Rate of infection Rate of transposition A mechanism , or combination of mechanisms for eliminating elements from the population. |
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