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Polymorphic Y chromosomes harbor cryptic variation with manifold functional consequences.

Bernardo Lemos1, Luciana O Araripe, Daniel L Hartl

  • 1Department of Organismic and Evolutionary Biology, Harvard University, 16 Divinity Avenue, Cambridge, MA 02138, USA. blemos@oeb.harvard.edu

Science (New York, N.Y.)
|January 5, 2008
PubMed
Summary
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The Drosophila Y chromosome has hidden genetic diversity affecting gene expression, influencing traits like sex ratio and fitness. This diversity explains adaptive phenotypic variation linked to the Y chromosome.

Area of Science:

  • Genetics
  • Evolutionary Biology
  • Developmental Biology

Background:

  • The Y chromosome in Drosophila melanogaster shows limited single-copy gene polymorphism.
  • Despite this, the Y chromosome influences complex traits like sex ratio, behavior, and fitness.
  • A discrepancy exists between low gene polymorphism and significant phenotypic effects.

Purpose of the Study:

  • To investigate the source of genetic diversity on the Y chromosome in Drosophila melanogaster.
  • To understand how Y chromosome genetic elements influence the expression of other genes.
  • To elucidate the mechanism behind Y chromosome-associated adaptive phenotypic variation.

Main Methods:

  • Analysis of polymorphisms in genetic elements on the Y chromosome.
  • Gene expression profiling of X-linked and autosomal genes.

Related Experiment Videos

  • Comparative genomic analysis between species.

    • Main Results:

    • The Y chromosome harbors substantial genetic diversity through polymorphic genetic elements.
    • These elements differentially affect the expression of hundreds of X-linked and autosomal genes.
    • Affected genes are male-biased in expression, species-divergent, and involved in microtubule stability, metabolism, and thermal sensitivity of spermatogenesis.

    Conclusions:

    • Polymorphic genetic elements on the Y chromosome are a major source of genetic diversity.
    • These elements regulate the expression of numerous other genes, contributing to phenotypic variation.
    • This provides a mechanism for adaptive phenotypic variation associated with the Y chromosome.