Human Genetics

, Volume 120, Issue 5, pp 713–722

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
Original Investigation

DOI: 10.1007/s00439-006-0261-7

Cite this article as:
Lind, J.M., Hutcheson-Dilks, H.B., Williams, S.M. et al. Hum Genet (2007) 120: 713. doi:10.1007/s00439-006-0261-7

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.

Keywords

Sex-biased gene flowAdmixture

Supplementary material

439_2006_261_MOESM1_ESM.doc (70 kb)
Supplementary material

Copyright information

© Springer-Verlag 2006

Authors and Affiliations

  • Joanne M. Lind
    • 1
    • 8
  • Holli B. Hutcheson-Dilks
    • 1
  • Scott M. Williams
    • 2
  • Jason H. Moore
    • 3
  • Myron Essex
    • 4
  • Eduardo Ruiz-Pesini
    • 5
  • Douglas C. Wallace
    • 5
  • Sarah A. Tishkoff
    • 6
  • Stephen J. O’Brien
    • 1
  • Michael W. Smith
    • 1
    • 7
    • 9
  1. 1.Laboratory of Genomic Diversity, NCI-Frederick FrederickUSA
  2. 2.Department of Molecular Physiology and Biophysics, Center for Human Genetics Research, and Division of Cardiovascular Medicine, Department of MedicineVanderbilt UniversityNashvilleUSA
  3. 3.Computational Genetics Laboratory, Department of Genetics, Department of Community and Family Medicine, Norris Cotton Cancer CenterDartmouth Medical SchoolLebanonUSA
  4. 4.Harvard AIDS Institute and Department of Immunology and Infectious DiseasesHarvard School of Public HealthCambridgeUSA
  5. 5.Center for Molecular and Mitochondrial Medicine and GeneticsUniversity of CaliforniaIrvineUSA
  6. 6.Department of BiologyUniversity of MarylandCollege ParkUSA
  7. 7.Basic Research ProgramSAIC-Frederick, Inc., NCI-FrederickFrederickUSA
  8. 8.Agnes Ginges Centre for Molecular CardiologyCentenary InstituteSydneyAustralia
  9. 9.National Cancer Institute at Frederick, Bldg 560, Rm 21-74, SAIC-FrederickFrederickUSA