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Elevated male European and female African contributions to the genomes of African American individuals

  1. Author:
    Lind, J. M.
    Hutcheson-Dilks, H. B.
    Williams, S. M.
    Moore, J. H.
    Essex, M.
    Ruiz-Pesini, E.
    Wallace, D. C.
    Tishkoff, S. A.
    O'Brien, S. J.
    Smith, M. W.

  2. Author Address

    NCI, SAIC Frederick, Lab Genom Divers, Frederick, MD 21701 USA. Vanderbilt Univ, Ctr Human Genet Res, Dept Physiol & Mol Biophys, Nashville, TN USA. Vanderbilt Univ, Dept Med, Div Cardiovasc Med, Nashville, TN USA. Dartmouth Coll Sch Med, Dept Genet, Dept Community & Family Med, Computat Genet Lab,Norris Cotton Canc Ctr, Lebanon, NH USA. Harvard Univ, Sch Publ Hlth, Harvard AIDS Inst, Cambridge, MA 02138 USA. Harvard Univ, Sch Publ Hlth, Dept Immunol & Infect Dis, Cambridge, MA 02138 USA. Univ Calif Irvine, Ctr Mol & Mitochondrial Med & Genet, Irvine, CA 92717 USA. Univ Maryland, Dept Biol, College Pk, MD 20742 USA. SAIC Frederick Inc, NCI Frederick, Basic Res Program, Frederick, MD USA. Centenary Inst, Agnes Ginges Ctr Mol Cardiol, Sydney, NSW, Australia.;Smith, MW, NCI, SAIC Frederick, Lab Genom Divers, Bldg 560,Rm 21-74, Frederick, MD 21701 USA.;smithm@ncifcrf.gov
    1. Year: 2007
    2. Date: Jan
  2. Journal: Human Genetics
    1. 120
    2. 5
    3. Pages: 713-722
  4. Type of Article: Article
  5. ISSN: 0340-6717
  1. Abstract:

    The differential relative contribution of males and females from Africa and Europe to individual African American genomes is relevant to mapping genes utilizing admixture analysis. The assessment of ancestral population contributions to the four types of genomic DNA (autosomes, X and Y chromosomes, and mitochondrial) with their differing modes of inheritance is most easily addressed in males. A thorough evaluation of 93 African American males for 2,018 autosomal single nucleotide polymorphic (SNP) markers, 121 X chromosome SNPs, 10 Y chromosome haplogroups specified by SNPs, and six haplogroup defining mtDNA SNPs is presented. A distinct lack of correlation observed between the X chromosome and the autosomal admixture fractions supports separate treatment of these chromosomes in admixture-based gene mapping applications. The European genetic contributions were highest (and African lowest) for the Y chromosome (28.46%), followed by the autosomes (19.99%), then the X chromosome (12.11%), and the mtDNA (8.51%). The relative order of admixture fractions in the genomic compartments validates previous studies that suggested sex-biased gene flow with elevated European male and African female contributions. There is a threefold higher European male contribution compared with European females (Y chromosome vs. mtDNA) to the genomes of African American individuals meaning that admixture-based gene discovery will have the most power for the autosomes and will be more limited for X chromosome analysis.

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External Sources

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  2. DOI: 10.1007/s00439-006-0261-7
  3. View record in Web of Science®
  4. WOS: 000243000800012

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