Proportionally more deleterious genetic variation in European than in African populations

Kirk E. Lohmueller, Amit R. Indap, Steffen Schmidt, Adam R. Boyko, Ryan D. Hernandez, Melissa J. Hubisz, John J. Sninsky, Thomas J. White, Shamil R. Sunyaev, Rasmus Nielsen, Andrew G. Clark and Carlos D. Bustamante ()
Additional contact information
Kirk E. Lohmueller: Department of Molecular Biology and Genetics,
Amit R. Indap: Biotechnology Building, Cornell University, Ithaca, New York 14853, USA
Steffen Schmidt: Max Planck Institute for Developmental Biology
Adam R. Boyko: Department of Molecular Biology and Genetics,
Ryan D. Hernandez: Biotechnology Building, Cornell University, Ithaca, New York 14853, USA
Melissa J. Hubisz: University of Chicago, Chicago, Illinois 60637, USA
John J. Sninsky: Celera Diagnostics, Alameda, California 94592, USA
Thomas J. White: Celera Diagnostics, Alameda, California 94592, USA
Shamil R. Sunyaev: Brigham and Women’s Hospital and Harvard Medical School, Boston, Massachusetts 02115, USA
Rasmus Nielsen: Center for Comparative Genomics, University of Copenhagen, Universitetsparken 15, 2100, KBH Ø, Denmark
Andrew G. Clark: Department of Molecular Biology and Genetics,
Carlos D. Bustamante: Biotechnology Building, Cornell University, Ithaca, New York 14853, USA

Nature, 2008, vol. 451, issue 7181, 994-997

Abstract: Genetic baggage check The analysis of genome-wide patterns of variation in human populations can provide genetic evidence of patterns of human migration and adaptation across the world. Two contrasting papers in this issue illustrate the power of the method. By combining a large number of datasets, Lohmueller et al. obtain precise estimates of the number of deleterious mutations carried by each of 15 African-Americans and 20 European-Americans, resequenced across 11,000 genes. They find that individuals with a European background have more potentially damaging mutations lurking in their genomes than those with an African background. This is interpreted as a genetic legacy from the 'out-of-Africa' bottleneck that accompanied the peopling of Europe. Jakobsson et al. take a broader snapshot of human variation by examining 29 populations in the Human Genome Diversity Project. They obtain genotype data for over 500,000 markers in the human genome. Echoing the study of Americans with African and European backgrounds, these data reveal increasing linkage disequilibrium with increasing geographic distance from Africa.

Date: 2008
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DOI: 10.1038/nature06611

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