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Related Concept Videos

Frequency-dependent Selection01:21

Frequency-dependent Selection

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When the fitness of a trait is influenced by how common it is (i.e., its frequency) relative to different traits within a population, this is referred to as frequency-dependent selection. Frequency-dependent selection may occur between species or within a single species. This type of selection can either be positive—with more common phenotypes having higher fitness—or negative, with rarer phenotypes conferring increased fitness.
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Hardy-Weinberg Principle01:49

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Diploid organisms have two alleles of each gene, one from each parent, in their somatic cells. Therefore, each individual contributes two alleles to the gene pool of the population. The gene pool of a population is the sum of every allele of all genes within that population and has some degree of variation. Genetic variation is typically expressed as a relative frequency, which is the percentage of the total population that has a given allele, genotype or phenotype.
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Types of Selection01:46

Types of Selection

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Natural selection influences the frequencies of particular alleles and phenotypes within populations in several different ways. Primarily, natural selection can be directional, stabilizing, or disruptive. Directional selection favors one extreme trait and shifts the population towards that phenotype while selecting against individuals displaying alternate traits. Stabilizing selection favors an intermediate trait with a narrow range of variation. Deviation from the optimal phenotype towards an...
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Genetic Drift03:33

Genetic Drift

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Natural selection—probably the most well-known evolutionary mechanism—increases the prevalence of traits that enhance survival and reproduction. However, evolution does not merely propagate favorable traits, nor does it always benefit populations.
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Mutation, Gene Flow, and Genetic Drift01:09

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In a population that is not at Hardy-Weinberg equilibrium, the frequency of alleles changes over time. Therefore, any deviations from the five conditions of Hardy-Weinberg equilibrium can alter the genetic variation of a given population. Conditions that change the genetic variability of a population include mutations, natural selection, non-random mating, gene flow, and genetic drift (small population size).
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Related Experiment Video

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Following the Dynamics of Structural Variants in Experimentally Evolved Populations
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Detecting Long-Term Balancing Selection Using Allele Frequency Correlation.

Katherine M Siewert1, Benjamin F Voight2,3,4

  • 1Genomics and Computational Biology Graduate Group, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA.

Molecular Biology and Evolution
|October 6, 2017
PubMed
Summary
This summary is machine-generated.

Balancing selection preserves multiple alleles over long evolutionary periods. A new statistic, β, detects linked alleles at similar frequencies, improving detection of this evolutionary force in human genomes.

Keywords:
balancing selectionhuman evolutionselection scans

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Area of Science:

  • Evolutionary genetics
  • Population genetics
  • Genomics

Background:

  • Balancing selection maintains multiple alleles in a population, a process crucial for long-term evolutionary preservation.
  • A key signature of balancing selection is an excess of intermediate frequency polymorphisms near balanced variants.
  • Existing methods for detecting balancing selection do not fully account for the expected allele frequency distribution near balanced sites.

Purpose of the Study:

  • To detail the expected distribution of allele frequencies at loci under balancing selection.
  • To develop a novel summary statistic (β) for detecting long-term balancing selection by identifying clusters of similarly frequent alleles.
  • To apply this new statistic to human genomic data to identify potential targets of balancing selection.

Main Methods:

  • Utilized computer simulations to model the accumulation of new mutations near sites under balancing selection.
  • Developed and tested a new summary statistic, β, designed to detect clusters of alleles at similar frequencies.
  • Compared the power of β against existing summary statistics across various demographic models, recombination, and mutation rates.
  • Computed β on data from the 1000 Genomes Project to identify putatively balanced loci in the human genome.

Main Results:

  • Simulations showed that new mutations near balanced sites accumulate at frequencies similar to the balanced allele.
  • The new statistic β demonstrated improved power to detect balancing selection compared to existing methods.
  • β maintained reasonable power in non-equilibrium demographic models and across a range of genetic parameters.
  • Analysis of 1000 Genomes Project data identified two balanced haplotypes (near WFS1 and CADM2) linked to complex trait associations.

Conclusions:

  • The proposed statistic β effectively detects long-term balancing selection by identifying linked alleles at similar frequencies.
  • This method offers a powerful and computationally efficient approach for scanning genomes for balancing selection.
  • The identified balanced haplotypes near WFS1 and CADM2 may play significant roles in human adaptation and complex traits.
  • The approach is applicable to diverse species, including those lacking outgroup sequences, facilitating broader population genomic analyses.