Title

Elevated Male European and Female African Contributions to the Genomes of African American Individuals

Authors

Joanne M. Lind, National Cancer Institute at Frederick; Centenary Institute - Sydney, Australia
Holli Hutcheson-Dilks, National Cancer Institute at Frederick
Scott M. Williams, Vanderbilt University
Jason H. Moore, Dartmouth Medical School
Myron Essex, Harvard School of Public Health
Eduardo Ruiz-Pesini, University of California - Irvine
Douglas C. Wallace, University of California - Irvine
Sarah A. Tishkoff, University of Maryland - College Park
Stephen J. O'Brien, National Cancer Institute at FrederickFollow
Michael W. Smith, National Cancer Institute at Frederick

Document Type

Article

Publication Date

1-2007

Publication Title

Human Genetics

Keywords

Sex-biased gene flow, Admixture

ISSN

0340-6717

Volume

120

Issue/No.

5

First Page

713

Last Page

722

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.

Comments

©Springer-Verlag 2006

Additional Comments

National Cancer Institute contract #: N01-CO-12400

NSUWorks Citation

Lind, Joanne M.; Holli Hutcheson-Dilks; Scott M. Williams; Jason H. Moore; Myron Essex; Eduardo Ruiz-Pesini; Douglas C. Wallace; Sarah A. Tishkoff; Stephen J. O'Brien; and Michael W. Smith. 2007. "Elevated Male European and Female African Contributions to the Genomes of African American Individuals." Human Genetics 120, (5): 713-722. https://nsuworks.nova.edu/cnso_bio_facarticles/529

ORCID ID

0000-0001-7353-8301

ResearcherID

N-1726-2015