Elevated male European and female African contributions to the genomes of African American individuals
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 chrom…
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A sex bias in African American ancestry, with greater male European and female African contributions, has been suggested through mtDNA, Y chromosome, and autosomal studies.
“A sex bias in African American ancestry, with greater male European and female African contributions, has been suggested through mtDNA, Y chromosome, and autosomal studies.6”
From The genetic ancestry of African Americans, Latinos, and European Americans across the United States (2015) · cites this paper as [6]
More recent studies using high-density genotype data provide reliable individual ancestry estimates, illustrate large variability in African and European ancestry proportions at an individual level, and detect low proportions of Native American ancestry.
“More recent studies that utilized high-density genotype data provide reliable individual ancestry estimates, illustrate the large variability in African and European ancestry proportions at an individual level, and are able to detect low proportions of Native American ancestry.3–11”
From The genetic ancestry of African Americans, Latinos, and European Americans across the United States (2015) · cites this paper as [6]
Cites
Estimating African American Admixture Proportions by Use of Population-Specific Alleles
Parra, E. J., Marcini, A., Akey, J., Martinson, J., Batzer, M. A., Cooper, R., Forrester, T., Allison, D. B., Deka, R., Ferrell, R. E., et al. (1998) · The American Journal of Human Genetics · doi:10.1086/302148 · Cited by 771 · cited 7× · see citing works
“Parra et al. (1998) and Parra et al. (2001) showed evidence for elevated European male (Y chromosome) and African female (mtDNA) genetic contributions, using the available marker sets (ten autosomal markers, six mtDNA markers, and one or two Y chromosome markers).”
BackgroundMethodResultInfluentialAdmixture mapping identifies 8q24 as a prostate cancer risk locus in African-American men
Freedman, M. L., Haiman, C. A., Patterson, N., McDonald, G. J., Tandon, A., Waliszewska, A., Penney, K., Steen, R. G., Ardlie, K., John, E. M., et al. (2006) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0605832103 · Cited by 612 · see citing works
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The Genetic Structure and History of Africans and African Americans
Tishkoff, S. A., Reed, F. A., Friedlaender, F. R., Ehret, C., Ranciaro, A., Froment, A., Hirbo, J. B., Awomoyi, A. A., Bodo, J.-M., Doumbo, O., et al. (2009) · Science · doi:10.1126/science.1172257 · Cited by 1,573 · see citing works
Self-citationThe genetic ancestry of African Americans, Latinos, and European Americans across the United States
Bryc, K., Durand, E. Y., Macpherson, J. M., Reich, D., & Mountain, J. L. (2015) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2014.11.010 · Cited by 712 · see citing works
- Authors
- 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.
- Affiliations
- Frederick National Laboratory for Cancer Research (US)
- Vanderbilt University (US)
- Dartmouth College (US)
- University of California, Irvine (US)
- University of Maryland, College Park (US)
- Corresponding author
- Smith, Michael W.
- ORCID
- Venue
- Human Genetics
- Published
- 2006-09-28
- Volume
- 120
- Issue
- 5
- Pages
- 713-722
- ISSN
- 0018-7348 (ISSN-L)
- 0340-6717
- 1432-1203
- OpenAlex
- W2158094182
- Cited by
- 88
- References
- 2
- Citations by year
- 2026: 1 · 2024: 2 · 2023: 3 · 2022: 7 · 2021: 5 · 2020: 5 · 2019: 4 · 2018: 2 · 2017: 2 · 2016: 4 · 2015: 7 · 2014: 5 · 2013: 4 · 2012: 7
- FWCI
- 3.23
- Type
- journal article
- Language
- en
- Open access
- closed
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Human Genetics (publishedVersion)
- PubMed (publishedVersion)
- NSUWorks (Nova Southeastern University) (submittedVersion)
- Funders
- U.S. Department of Health and Human Services
- National Institutes of Health (n01co12400-79-0-22)
- National Cancer Institute (N01CO12400)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Forensic and Genetic Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Race, Genetics, and Society
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic diversity and population structure
- Keywords
- European ancestry, African ancestry, sex-biased gene flow, Y chromosome, X chromosome, mitochondrial DNA, autosomes, single nucleotide polymorphisms, Y-chromosome haplogroups, mtDNA haplogroups
- MeSH terms
- Algorithms, Black or African American, DNA, Mitochondrial, Female, Genetics, Population, Haplotypes, Humans, Male, Phylogeny, Genome, Human, Chromosomes, Human, X, Chromosomes, Human, Y, Black People, White People
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