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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Acknowledgments
We are grateful to the many individuals whose DNA samples were used in this study. Technical help was provided by Ann Truelove, Guo Kui Pei, and Michael Malasky. Some help with statistical analysis and sample tracking was provided by James Lautenberger and Bailey Kessing, respectively. We appreciate the secretarial assistance of Andrea Smith during the manuscript preparation and publication process, Carolyn Whistler of Scientific Publications, Graphics and Media, SAIC-Frederick who assisted with preparation of the artwork. This project has been funded in part with federal funds from the National Cancer Institute, National Institutes of Health, under contract N01-CO-12400. The content of this publication does not necessarily reflect the views or policies of the Department of Health and Human Services, nor does mention of trade names, commercial products, or organizations imply endorsement by the US Government. This research was supported in part by the Intramural Research Program of the NIH, National Cancer Institute, Center for Cancer Research.
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Lind, J.M., Hutcheson-Dilks, H.B., Williams, S.M. et al. Elevated male European and female African contributions to the genomes of African American individuals. Hum Genet 120, 713–722 (2007). https://doi.org/10.1007/s00439-006-0261-7
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DOI: https://doi.org/10.1007/s00439-006-0261-7