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Lethal Alleles02:41

Lethal Alleles

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Agouti: A Lethal Allele
Lucien Cuénot discovered lethal alleles in 1905 while studying the inheritance of coat color in mice. The agouti gene is responsible for the color of the coat in mice. This gene codes for an agouti-signaling protein, which is responsible for melanin distribution in mammals. The wild-type allele gives rise to gray-brown coat color in mice, while the mutant allele gives rise to yellow coat color. In addition to coat color, the agouti gene is associated with the yellow...
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In animals, gender is determined by the number and type of sex chromosome. For example, human females have two X chromosomes, and males have one X and one Y chromosome, whereas C.elegans with one X chromosome is a male, and the one with two X chromosomes is a hermaphrodite.
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Although the genetic makeup of an organism plays a major role in determining the phenotype, there are also several environmental factors, such as temperature, oxygen availability, presence of mutagens, that can alter an organism’s phenotype.
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Frequency-dependent Selection01:21

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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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Optogenetic Random Mutagenesis Using Histone-miniSOG in C. elegans
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A flamboyant behavioral polymorphism is controlled by a lethal supergene.

Chris D Jiggins1

  • 1Department of Zoology, University of Cambridge, Cambridge, UK.

Nature Genetics
|December 30, 2015
PubMed
Summary

Two new studies reveal how different male reproductive behaviors in a wading bird are genetically controlled. Alternate alleles at a single genomic locus, forming a supergene, dictate these complex traits.

Area of Science:

  • Genomics
  • Evolutionary Biology
  • Animal Behavior

Background:

  • Male reproductive strategies can vary significantly within a species.
  • Genetic mechanisms underlying such divergent phenotypes are often complex.
  • Understanding the genetic basis of reproductive variation is key to evolutionary studies.

Purpose of the Study:

  • To investigate the genetic control of divergent male reproductive modes in a wading bird species.
  • To identify the specific genetic locus and mutations responsible for these reproductive differences.
  • To characterize the nature of the genetic locus as a potential supergene.

Main Methods:

  • Genome-wide association studies (GWAS) to identify associated genetic regions.
  • Fine-scale genetic mapping to pinpoint the causative locus.

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  • Analysis of genomic inversions and allele frequencies.
  • Phenotypic characterization of male reproductive behaviors.
  • Main Results:

    • Discovery of a single genetic locus controlling divergent male reproductive behaviors.
    • Identification of alternate alleles at this locus, linked to distinct reproductive strategies.
    • Characterization of the locus as a 4.5-megabase (Mb) genomic inversion.
    • Evidence supporting the locus as a 'supergene' influencing multiple phenotypes.

    Conclusions:

    • A single supergene, defined by a large genomic inversion, underlies divergent male reproductive strategies in this wading bird.
    • This finding provides a model for how genetic architecture can facilitate the evolution of complex phenotypic variation.
    • The study highlights the role of structural variants, like inversions, in creating novel evolutionary pathways.