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Biased clustered substitutions in the human genome: the footprints of male-driven biased gene conversion.

Biased clustered substitutions in the human genome: the footprints of male-driven biased gene conversion. Research Abstract Details 

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  • Biased clustered substitutions in the human genome: the footprints of male-driven biased gene conversion. Abstract Text:

    timothy r dreszerTimothy R Dreszer,gregory d wallGregory D Wall,david hausslerDavid Haussler,katherine s pollardKatherine S Pollard,

    We examined fixed substitutions in the human lineage since divergence from the common ancestor with the chimpanzee, and determined what fraction are AT to GC (weak-to-strong). Substitutions that are densely clustered on the chromosomes show a remarkable excess of weak-to-strong "biased" substitutions. These unexpected biased clustered substitutions (UBCS) are common near the telomeres of all autosomes but not the sex chromosomes. Regions of extreme bias are enriched for genes. Human and chimp orthologous regions show a striking similarity in the shape and magnitude of their respective UBCS maps, suggesting a relatively stable force leads to clustered bias. The strong and stable signal near telomeres may have participated in the evolution of isochores. One exception to the UBCS pattern found in all autosomes is chromosome 2, which shows a UBCS peak midchromosome, mapping to the fusion site of two ancestral chromosomes. This provides evidence that the fusion occurred as recently as 740,000 years ago and no more than approximately 3 million years ago. No biased clustering was found in SNPs, suggesting that clusters of biased substitutions are selected from mutations. UBCS is strongly correlated with male (and not female) recombination rates, which explains the lack of UBCS signal on chromosome X. These observations support the hypothesis that biased gene conversion (BGC), specifically in the male germline, played a significant role in the evolution of the human genome.

    Biased clustered substitutions in the human genome: the footprints of male-driven biased gene conversion. Publishing Authors By Initials

    tr dreszerTR Dreszer,gd wallGD Wall,d hausslerD Haussler,ks pollardKS Pollard,

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    Biased clustered substitutions in the human genome: the footprints of male-driven biased gene conversion. Journal Published:

    PUBLICATION TYPE: Journal Article

    Journal: Genome research

    VOLUME: 17

    Page Numbers: 1420-30

    Journal Abbreviation: Genome Res.

    ISSN: 1088-9051

    DAY: 4

    MONTH: 09

    YEAR: 2007

    Biased clustered substitutions in the human genome: the footprints of male-driven biased gene conversion. Information

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    LANGUAGE: eng

    NlmUniqueID: 9518021

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    Grant and Affiliation Information for Biased clustered substitutions in the human genome: the footprints of male-driven biased gene conversion.

    AFFILIATION: Department of Biomolecular Engineering, University of California, Santa Cruz, California 95064, USA.

    Country: United States

    United States Research PublicationUnited States Research Publication

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    MEDLINETA: Genome Res

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