論文

査読有り
2017年8月

Evidence for Very Recent Positive Selection in Mongolians

MOLECULAR BIOLOGY AND EVOLUTION
  • Kazuhiro Nakayama
  • ,
  • Jun Ohashi
  • ,
  • Kazuhisa Watanabe
  • ,
  • Lkagvasuren Munkhtulga
  • ,
  • Sadahiko Iwamoto

34
8
開始ページ
1936
終了ページ
1946
記述言語
英語
掲載種別
研究論文(学術雑誌)
DOI
10.1093/molbev/msx138
出版者・発行元
OXFORD UNIV PRESS

Mongols, the founders of the largest continental empire in history, successfully adapted to the harsh environments of Inner Asia through nomadic pastoralism. Considerable interest exists in ascertaining whether genetic adaptation also contributed to the Mongols' success, and dissecting the genome diversity of present-day populations in Mongolia can help address this question. To this end, we determined the genotypes of nearly 2.4 million single nucleotide polymorphisms (SNPs) of 96 unrelated Mongolian individuals in Ulaanbaatar city, and performed genome-wide scans for population-specific positive selection. We discovered signatures of Mongolian-specific positive selection at the chromosomal region 3p12.1, in which hits in genome-wide association studies were reported for medical and biological traits related to energy metabolism and reproduction. The top SNP, rs117799927, showed a distinctive geographic distribution: the frequency of the derived allele, rs117799927 G, was extremely low among worldwide populations (0.005) but exceptionally high in Mongolians (0.247). Approximate Bayesian computation-based age estimation showed that the rs117799927 G allele emerged or positive selection began to operate 50 generations before the present, near the age of the climate anomaly named Late Antique Little Ice Age. Furthermore, rs117799927 showed significant associations with multiple adiposity-related traits in Mongolians and allelic difference in enhancer activity in cells of adipocyte lineage, suggesting that positive selection at 3p12.1 might be related to adaptation in the energy metabolism system. These findings provide novel evidence for a very recent positive-selection event in Homo sapiens and offer insights into the roles of genes in 3p12.1 in the adaptive evolution of our species.

リンク情報
DOI
https://doi.org/10.1093/molbev/msx138
PubMed
https://www.ncbi.nlm.nih.gov/pubmed/28444381
Web of Science
https://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=JSTA_CEL&SrcApp=J_Gate_JST&DestLinkType=FullRecord&KeyUT=WOS:000406929700010&DestApp=WOS_CPL
ID情報
  • DOI : 10.1093/molbev/msx138
  • ISSN : 0737-4038
  • eISSN : 1537-1719
  • PubMed ID : 28444381
  • Web of Science ID : WOS:000406929700010

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