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2 Major Features of Most Genetic Traits
- 1. Complexity of the genotype-phenotype relationship-no single factor is both necessary and sufficient to cause a phenotype, causes of variation of a phenotype does not equal cause of a phenotype
- 2. Confoundment of frequency and apparent causation in complex systems-requires population studies
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5 Observations 3 Inferences of Natural Selection
- Obv1. Organisms have great potential fertility, permiting exponential growth of populations
- Obv2. Natural populations remain fairly constant in size, not increasing exponentially
- Obv3. Natural resources are limited
- Inf1. A struggle for existence occurs in a population
- Obv4. Variation occurs among organisms within a population
- Obv5. Variation is heritable
- Inf2. Varying organisms show differential survival and reproduction, favoring advantageous traits-natural selection
- Inf3. Natural selection over many generations gradually produces new adaptations and species
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Abstraction and Simplification
identify essential aspects of reality and remove distracting elements
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Adaptation
a trait that evolved by natural selection for a particular biological role
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Additive Genetic Variance
σa2=Σ(freqgeno)(gai)2
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Additive Genotypic Deviation
gai=sum of avg. excess of all phenotypes involved
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Additive Variance v. Non-Additive Variance
how much of the genetic variance can be transmitted to influence the phenotypic variation in the next generation
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Algorithm
- 1. Substrate nutrality-reproducting population with heredity and variation
- 2. Underlying mindlessness
- 3. Guranteed results
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Assumptions
unreal conditions used to facilitate study eg non-overlap generations, infinite population
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Average Excess
avg. excess=Σ(freqallele)(gi)
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Biological Species Concept
Mayr-A reproductive community of populations (reproductively isolated from others) that occupies a specific niche in nature
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Broad-Sense Heritability
hB2=σg2/σp2
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BSC Problems
- 1. sexual forms only
- 2. no temporal dimension-BSC is for a slice of time and does not show lineage through time
- 3. not a single unit of evolution-divergence of character does not equal different species
- 4. not practically testable-sexual behavior in lab doesn't always reflect behavior in habitat
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Characteristics of Math Models
- 1. Abstraction and Simplification
- 2. Sufficient Paramaters
- 3. Assumptions
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Coalescence
all copies of homologous DNA trace back to a common ancestral molecule
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Codominant
both phenotypes observed when heterozygous eg sickle cell electrophoretic mobility
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Correlation Coefficient Between Parent and Offspring
=(σa2)/2
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Correlation Coefficient Between Siblings
=(h2/2)+[(σd2)/(4σp2)
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Correlation Coefficient
- Between X and Y
- =[Cov(X,Y)]/[sqrt(σx2σy2)]
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Covariance
- between X and Y
- Avg(X-µx)(Y-µy)
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Deme
a local population of reproducing individuals that has physical continuity over time and space, lowest biological level that can evolve
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Dietary Disease (v. genetic disease)
diet is the rarer factor of the disease and the genetics is common
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Dominance Variance
- same as non-additive genetic variance in a single locus model
- σd2=σg2-σa2 (single locus model)
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Dominant
presence of one allele masks the phenotype of the other eg sickle cell malarial resistance
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Environmental Interactions
Phenotype affected by non-genetic forces, which may include other phenotypes within the body eg LDL cholesterol level
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Epistatic Variance
- part of non-additive variance in population level arising from inheritance among genotypes at different loci
- when comparing two populations, the rarer genotype shows more additive variance when epistatically correlated
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Evolution
change in allele/gamete frequency in gene pool, fates of alternate forms of genes over space and time ina population
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Evolutionary Forces in Populations
Mutation and Genetic Drift
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Exaptation
a trait coopted by natural selection for a role incidental to the trait's origin
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Fisher's Analysis of Variance
σp2=σg2+σe2
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Founder Event
rare dispersal across pre existing barrier eg Galapagos
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Gene Pool
the population of gene copies and potential gametes collectively shared by individuals of a deme
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Gene Tree
branches show lineal descent of copies of homologous DNA
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Genetic Disease (v. dietary disease)
genetics is the rarer factor of the disease and the diet is common
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Genetic Drift
random changes in allele frequency due to finite number of population size (sampling error), directionless, cumulative, strength is inversely proportional to 1/(2N), rate of losing allele =1/(2N), avgerage time for two genes to coalesce=2N, avgerage time for all genes to coalesce=4N
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Genetic Variance v. Environmental Variance
how much phenotypic variance is associated with genotypic variation in a population in a given generation
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Genetic Variance
σg2=Σ(freqgeno)(gi)2
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Genome Scan
SNP markers every 10 cM in genome of population, which must have high frequency of phenotype and high linkage disequilibrium
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Genotypic Deviation
gi= -x-pog--x-pop
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Gradualism
less empirical support accumulation of small, quantitative changes leads to qualitative change
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Haplotype Tree
branches denote mutational events in the evolutionary histroy of homologous DNA
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Haplotype
Set of identical haploid genomes for a specified unit of measurement (same as allele for measurements taken at DNA/chromosomal level) In common usage-bases present at polymorphic sites genotypically linked on a DNA molecule eg SNPs RFLPs
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Hopeful Monster
large phenotypic change in a single generation eg Ancon sheep
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Identify by Descent
replication without mutation, refering to alleles and associated phenotypes eg mitochondrial DNA
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Mean
- µ (or -x- for a sample population)
- (x1+x2+...+xn)/n
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Mendelian Epistasis
not sufficient for epistatic variance at population level
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Molecular Basis of Evolution
DNA can replicate, can mutate and recombine, encodes RNA/proteins that interact with environmental conditions to influence a phenotype
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Mutation Rate
- µ unitless # newly mutated copies total # copies of homologous DNA
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Mutation-Selection Equilibrium
mutation produced lethal alleles and selection removes them
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Mutation
causes many small changes
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Narrow-Sense Heritability
h2=σa2/σp2
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Natural Selection
- a population based mechanism of evolutionary change invoked to explain adaptation
- Not a random process
- Random component-variation is produced at random with respect to organism's needs
- Non-random component-organisms with favorable traits have higher rates of survival and reproduction, causing populations to accumulate the most favorable variants and discard less favorable ones
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Non-Additive Genetic Variance
- 1. Single locus model=σd2
- 2. Multilocus model=σd2+σepistatic2
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Non-Allopatric Speciation
Larson disagrees geographic isolation does not precede evolution of species
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Norm of Reaction
set of phenotypes associated witha particular genotype in interacton with a variety of environmental conditions and genetic backgrounds
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Overdominant
heterozygote phenotype is more fit than phenotype of either homozygote eg sickle cell heterozygote viability in malarial environment
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Parent-Offspring Covariance
measures heritability without measuring genotype
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Phenotype
any measurable trait, either discrete or continuous
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Phylogenetic Species Concept
Carcraft-A lineage of ancestor-descendant populations diagnosably distinct by divergence of character
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Pioneer Fund
Hate group that wants to prove that black people are genetically inferior
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Polygenic
Ronald Fisher-multiple loci contribute to the phenotype
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Postzygotic Reproductive Barriers
hybrid invariability, hybrid sterility, hybrid breakdown
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Prezygotic Reproductive Barriers
temporal, ecological, behavioral, mechanical, gametic
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Progressive Adaptation
later forms are superior to early ones in a general sense
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Quantitative Genetics
analysis of genetic variance for continuously varying phenotypes within a population
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Quantitative Trait Locus (QTL)
- locus whose variation contributes to population variation of a continuously varying phenotype
- found using genome scan followed by tree scan
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Randomness
mutations can be good or bad
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Recessive
phenotype only observed when homozygous eg sickle cell severe anemia
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Reinforcement
controversial selection on hybrids with postzygotic barriers leads to prezygotic barriers
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Single Gene Inheritance
Phenotype is the result of only one locus
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Sources of Allopatry
vicariance and founder event
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Sufficient Parameters
minimum mumber of summary variables, combining relevent information of many parameters at lower levels eg "fitness"
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Sympatric Speciation
multiple species lineages generated from an ancestor in an undivided geographic area
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Tree Scan
- haplotype tree used to test SNP sites for influence on the phenotype
- group all haplotypes on either side of a particular branch, call them A1 and A2, measure norms of reaction for the resulting genotypes A1A1, A1A2, A2A2, repeat for all branches in tree
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Variance
- σ2 (or s2 for a sample population)
- σ2=[(x1-µ)2+(x2-µ)2+...+(xn-µ)2]/n
- s2=[(x1--x-)2+(x2--x-)2+...+(xn--x-)2]/(n-1)
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Vicariance
subdivide formerly continuous habitat
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