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三维基因组分析点亮人类大脑进化之谜

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  • 1 中国科学院昆明动物研究所,遗传资源与进化国家重点实验室,昆明 650223

收稿日期: 2021-01-28

  网络出版日期: 2021-02-16

基金资助

中国科学院B类先导项目(XDB1301000);国家自然科学基金委项目(U2002207);国家自然科学基金委项目(31730088);国家自然科学基金委项目(31621062);国家自然科学基金委项目(91631306);国家自然科学基金委项目(32000406);国家自然科学基金委项目(31871266);国家自然科学基金委项目(71532001);国家自然科学基金委项目(11661141019);国家自然科学基金委项目(61621003);科技部重点研发项目(2016YFA0100103)

Three dimensional genome analysis lightens the mystery of human brain evolution

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  • 1 State Key Laboratory of genetic resources and evolution, Kunming Institute of zoology, Chinese Academy of Sciences, Kunming, China

Received date: 2021-01-28

  Online published: 2021-02-16

Supported by

the Strategic Priority Research Program(XDB1301000);the National Natural Science Foundation of China(U2002207);the National Natural Science Foundation of China(31730088);the National Natural Science Foundation of China(31621062);the National Natural Science Foundation of China(91631306);the National Natural Science Foundation of China(32000406);the National Natural Science Foundation of China(31871266);the National Natural Science Foundation of China(71532001);the National Natural Science Foundation of China(11661141019);the National Natural Science Foundation of China(61621003);the National Key Research and Development Program of China(2016YFA0100103)

摘要

人类大脑起源于漫长的生命进化过程,其最显著的改变是大脑的认知功能,反映在脑容量的显著扩增和脑结构的高度精细化。人类进化过程中哪些遗传改变造就了人类大脑是国际科学界长期力图回答的重要科学问题。所有器官包括大脑的形成都是通过发育过程来实现的,人类独特的脑发育模式源于在进化中基因组积累的功能性突变。通过近20年的比较基因组学研究已经发现大量人类特异的基因组序列变异和调控元件,典型的如人类快速进化区域(human accelerated regions, HARs)和人类特异的增强子(human-specific enhancers, HGEs)。哺乳动物包括人类的基因组一般长度约2 m,折叠在仅有10 μm大小的细胞核中。基因组在细胞核的三维空间中层次化有序折叠,其染色质高维结构对发育中细胞的增殖和有序分化至关重要。如何将基因组中的序列差异与脑发育的调控改变之间建立因果联系,并解析其中的分子调控机制,是颇具挑战的问题。

关键词: 大脑; 三维基因组; 进化

本文引用格式

罗鑫, 宿兵 . 三维基因组分析点亮人类大脑进化之谜[J]. 遗传, 2021 , 43(2) : 105 -107 . DOI: 10.16288/j.yczz.20-031

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