Elevated male European and female African contributions to the genomes of African American individuals |
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| Authors: | Joanne M Lind Holli B Hutcheson-Dilks Scott M Williams Jason H Moore Myron Essex Eduardo Ruiz-Pesini Douglas C Wallace Sarah A Tishkoff Stephen J O’Brien Michael W Smith |
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| Institution: | (1) Laboratory of Genomic Diversity, NCI-Frederick, Frederick, MD, USA;(2) Department of Molecular Physiology and Biophysics, Center for Human Genetics Research, and Division of Cardiovascular Medicine, Department of Medicine, Vanderbilt University, Nashville, TN, USA;(3) Computational Genetics Laboratory, Department of Genetics, Department of Community and Family Medicine, Norris Cotton Cancer Center, Dartmouth Medical School, Lebanon, NH, USA;(4) Harvard AIDS Institute and Department of Immunology and Infectious Diseases, Harvard School of Public Health, Cambridge, MA, USA;(5) Center for Molecular and Mitochondrial Medicine and Genetics, University of California, Irvine, CA, USA;(6) Department of Biology, University of Maryland, College Park, MD, USA;(7) Basic Research Program, SAIC-Frederick, Inc., NCI-Frederick, Frederick, MD, USA;(8) Agnes Ginges Centre for Molecular Cardiology, Centenary Institute, Sydney, Australia;(9) National Cancer Institute at Frederick, Bldg 560, Rm 21-74, SAIC-Frederick, Frederick, MD 21702, USA |
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| 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.
Electronic supplementary material Supplementary material is available in the online version of this article at and is accessible for authorized users. |
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| Keywords: | Sex-biased gene flow Admixture |
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