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

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*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

73 Citations (Scopus)


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.

Original languageEnglish
Pages (from-to)713-722
Number of pages10
JournalHuman Genetics
Issue number5
Publication statusPublished - Jan 2007
Externally publishedYes


  • Admixture
  • Sex-biased gene flow


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