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对与精神疾病和人类独特人格特质相关基因的正向选择和平衡选择。

Positive and balancing selection on gene associated with psychiatric disorders and human-unique personality traits.

作者信息

Sato Daiki X, Kawata Masakado

机构信息

Graduate School of Life Sciences, Tohoku University Sendai 980-8578 Japan.

出版信息

Evol Lett. 2018 Aug 21;2(5):499-510. doi: 10.1002/evl3.81. eCollection 2018 Oct.

Abstract

Maintenance of genetic variants susceptible to psychiatric disorders is one of the intriguing evolutionary enigmas. The present study detects three psychiatric disorder-relevant genes (, , and ) that have been under positive selection during the human evolution. In particular, (vesicular monoamine transporter 1; ) gene has a human-unique variant (rs1390938, Thr136Ile), which is associated with bipolar disorders and/or the anxiety-related personality traits. 136Ile shows relatively high (20-61%) frequency in non-African populations, and Tajima's  reports a significant peak around the Thr136Ile site, suggesting that this polymorphism has been positively maintained by balancing selection in non-African populations. Moreover, Coalescent simulations predict that 136Ile originated around 100,000 years ago, the time being generally associated with the Out-of-Africa migration of modern humans. Our study sheds new light on a gene in monoamine pathway as a strong candidate contributing to human-unique psychological traits.

摘要

维持对精神疾病易感的基因变异是一个引人入胜的进化谜团。本研究检测到三个在人类进化过程中经历正选择的与精神疾病相关的基因(、和)。特别是,囊泡单胺转运体1(Vesicular monoamine transporter 1; )基因有一个人类特有的变异(rs1390938,Thr136Ile),它与双相情感障碍和/或焦虑相关的人格特质有关。136Ile在非非洲人群中显示出相对较高(20 - 61%)的频率,并且Tajima's检验在Thr136Ile位点周围报告了一个显著的峰值,表明这种多态性在非非洲人群中通过平衡选择而被正向维持。此外,溯祖模拟预测136Ile大约起源于10万年前,这个时间通常与现代人类走出非洲的迁徙相关。我们的研究为单胺途径中的一个基因作为导致人类独特心理特质的有力候选基因提供了新的线索。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b9b7/6145502/b446fb9d90ac/EVL3-2-499-g001.jpg

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