Elucidating the evolutionary process of archaic-like haplotype related to high-altitude adaptation in modern humans

2017 Fiscal Year Final Research Report

• Project/Area Number: 15K18621
• Research Category: Grant-in-Aid for Young Scientists (B)
• Allocation Type: Multi-year Fund
• Research Field: Physical anthropology
• Research Institution: Mie University
• Principal Investigator: YASUKOCHI YOSHIKI 三重大学, 地域イノベーション推進機構, 助教 (60624525)
• Project Period (FY): 2015-04-01 – 2018-03-31
• Keywords: 高地適応 / EPAS1 / EGLN1 / 旧人類 / 関連解析 / 低圧低酸素

Outline of Final Research Achievements

In the present study, we aimed to elucidate 1) how the Denisovan-like (archaic-like) haplotype related to high-altitude adaptation in Tibetan highlanders has been introduced into modern humans and 2) the association of EGLN1 genetic polymorphisms related to high-altitude adaptation with physiological responses in lowlanders with lowlander ancestry. The Denisovan-like haplotype was not detected from Melanesian populations with 4-6% of their genetic material from Denisovans, suggesting that archaic-like EPAS1 genetic variants have expanded in Tibetan highlanders after the divergence from other ethnic groups. In addition, genetic variants of two polymorphic sites around the EGLN1 gene were associated with arterial oxygen saturation (SpO2) levels and the reaction time (SpO2 latency) in Japanese lowlanders.

Free Research Field

分子進化学