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Proportionally more deleterious genetic variation in European than in African populations

Author

Listed:
  • Kirk E. Lohmueller

    (Department of Molecular Biology and Genetics,
    Biotechnology Building, Cornell University, Ithaca, New York 14853, USA)

  • 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,
    Biotechnology Building, Cornell University, Ithaca, New York 14853, USA)

  • 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)

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.

Suggested Citation

  • 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 , 2008. "Proportionally more deleterious genetic variation in European than in African populations," Nature, Nature, vol. 451(7181), pages 994-997, February.
    • Handle: RePEc:nat:nature:v:451:y:2008:i:7181:d:10.1038_nature06611
    DOI: 10.1038/nature06611
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    Cited by:

    1. Raul Torres & Zachary A Szpiech & Ryan D Hernandez, 2018. "Human demographic history has amplified the effects of background selection across the genome," PLOS Genetics, Public Library of Science, vol. 14(6), pages 1-27, June.
    2. Sergio F. Nigenda-Morales & Meixi Lin & Paulina G. Nuñez-Valencia & Christopher C. Kyriazis & Annabel C. Beichman & Jacqueline A. Robinson & Aaron P. Ragsdale & Jorge Urbán R. & Frederick I. Archer & , 2023. "The genomic footprint of whaling and isolation in fin whale populations," Nature Communications, Nature, vol. 14(1), pages 1-18, December.
    3. Guillaume Laval & Etienne Patin & Luis B Barreiro & Lluís Quintana-Murci, 2010. "Formulating a Historical and Demographic Model of Recent Human Evolution Based on Resequencing Data from Noncoding Regions," PLOS ONE, Public Library of Science, vol. 5(4), pages 1-15, April.
    4. Kirk E Lohmueller & Anders Albrechtsen & Yingrui Li & Su Yeon Kim & Thorfinn Korneliussen & Nicolas Vinckenbosch & Geng Tian & Emilia Huerta-Sanchez & Alison F Feder & Niels Grarup & Torben Jørgensen , 2011. "Natural Selection Affects Multiple Aspects of Genetic Variation at Putatively Neutral Sites across the Human Genome," PLOS Genetics, Public Library of Science, vol. 7(10), pages 1-15, October.
    5. Jerome Kelleher & Alison M Etheridge & Gilean McVean, 2016. "Efficient Coalescent Simulation and Genealogical Analysis for Large Sample Sizes," PLOS Computational Biology, Public Library of Science, vol. 12(5), pages 1-22, May.
    6. Carlos Eduardo G Amorim & Ziyue Gao & Zachary Baker & José Francisco Diesel & Yuval B Simons & Imran S Haque & Joseph Pickrell & Molly Przeworski, 2017. "The population genetics of human disease: The case of recessive, lethal mutations," PLOS Genetics, Public Library of Science, vol. 13(9), pages 1-23, September.
    7. Rahul C Deo & David Reich & Arti Tandon & Ermeg Akylbekova & Nick Patterson & Alicja Waliszewska & Sekar Kathiresan & Daniel Sarpong & Herman A Taylor Jr. & James G Wilson, 2009. "Genetic Differences between the Determinants of Lipid Profile Phenotypes in African and European Americans: The Jackson Heart Study," PLOS Genetics, Public Library of Science, vol. 5(1), pages 1-11, January.

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