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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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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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Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
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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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In addition to multiple alleles at the same locus influencing traits, numerous genes or alleles at different locations may interact and influence phenotypes in a phenomenon called epistasis. For example, rabbit fur can be black or brown depending on whether the animal is homozygous dominant or heterozygous at a TYRP1 locus. However, if the rabbit is also homozygous recessive at a locus on the tyrosinase gene (TYR), it will have an unshaded coat that appears white, regardless of its TYRP1...
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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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Pleiotropic mutations are subject to strong stabilizing selection.

Katrina McGuigan1, Julie M Collet2, Scott L Allen2

  • 1School of Biological Sciences, The University of Queensland, Brisbane 4072, Australia k.mcguigan1@uq.edu.au.

Genetics
|May 6, 2014
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Summary
This summary is machine-generated.

Pleiotropic mutations, affecting multiple traits, face stronger evolutionary selection than those with single effects. This study provides empirical evidence in Drosophila, supporting evolutionary models predicting higher selection against pleiotropy.

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Area of Science:

  • Evolutionary biology
  • Genetics
  • Molecular biology

Background:

  • Evolutionary models often assume pleiotropic mutations are more detrimental than those with limited effects.
  • Empirical validation for this assumption, particularly concerning gene expression, remains scarce.

Purpose of the Study:

  • To empirically assess the strength of stabilizing selection on mutations impacting gene expression in Drosophila serrata.
  • To investigate whether pleiotropic mutations, affecting multiple traits, experience stronger selection than mutations with restricted effects.

Main Methods:

  • Utilized mutation accumulation (MA) and inbred lines from an outbred population of Drosophila serrata.
  • Estimated mutational variance (VM) and standing genetic variance (VG) for 855 gene-expression traits.
  • Employed factor analytic mixed modeling to identify covarying traits linked by pleiotropic mutations and calculated selection strength (s = VM/VG).

Main Results:

  • Stabilizing selection was significant, with 17% of individual traits showing s > 0.02.
  • Pleiotropic trait combinations exhibited median selection strengths three times greater than individual traits.
  • 46% of pleiotropic combinations displayed s > 0.02, indicating substantial selection against pleiotropic mutations.

Conclusions:

  • The study provides strong empirical support for the hypothesis that mutations with pleiotropic effects face stronger purifying selection.
  • Findings validate a key assumption in evolutionary models concerning the impact of pleiotropy on molecular evolution.
  • The research highlights the importance of considering pleiotropy when studying the evolution of gene expression.