Evolutionary history and adaptation from high-coverage whole-genome sequences of diverse African hunter-gatherers

Details

• Alternative Title:
  Cell
• Personal Author:
  Lachance, Joseph ; Vernot, Benjamin ; Elbers, Clara C. ; Ferwerda, Bart ; Froment, Alain ; Bodo, Jean-Marie ; Lema, Godfrey ; Fu, Wenqing ; Nyambo, Thomas B. ; Rebbeck, Timothy R. ; Zhang, Kun ; Akey, Joshua M. ; Tishkoff, Sarah A.
• Description:
  To reconstruct modern human evolutionary history and identify loci that have shaped hunter-gatherer adaptation, we sequenced the whole genomes of five individuals in each of three different hunter-gatherer populations at > 60× coverage: Pygmies from Cameroon and Khoesan-speaking Hadza and Sandawe from Tanzania. We identify 13.4 million variants, substantially increasing the set of known human variation. We found evidence of archaic introgression in all three populations, and the distribution of time to most recent common ancestors from these regions is similar to that observed for introgressed regions in Europeans. Additionally, we identify numerous loci that harbor signatures of local adaptation, including genes involved in immunity, metabolism, olfactory and taste perception, reproduction, and wound healing. Within the Pygmy population, we identify multiple highly differentiated loci that play a role in growth and anterior pituitary function and are associated with height.
• Subjects:
  Black People Evolution, Molecular Genetics, Medical Genome, Human High-Throughput Nucleotide Sequencing Human Activities Humans Polymorphism, Single Nucleotide Sequence Analysis, DNA
• Source:
  Cell. 2012; 150(3):457-469
• Pubmed ID:
  22840920
• Pubmed Central ID:
  PMC3426505
• Document Type:
  Journal Article
• Funding:
  R01GM076637/GM/NIGMS NIH HHS/United States ; 8 DP1 ES022557-04/DP/NCCDPHP CDC HHS/United States ; R01 GM076637/GM/NIGMS NIH HHS/United States ; P30-ES013508-07/ES/NIEHS NIH HHS/United States ; P30 ES013508/ES/NIEHS NIH HHS/United States ; F32HG006648-01/HG/NHGRI NIH HHS/United States ; F32 HG006648/HG/NHGRI NIH HHS/United States ; DP1 ES022577/ES/NIEHS NIH HHS/United States
• Volume:
  150
• Issue:
  3
• Collection(s):
  CDC Public Access
• Main Document Checksum:
  urn:sha256:7b07263b5646af77ca1a6f19461ca9130e759243b34ef2c55f17b68041c9783e
• Download URL:
  https://stacks.cdc.gov/view/cdc/33421/cdc_33421_DS1.pdf
• File Type:
  [PDF - 1.79 MB ]