遗传 ›› 2016, Vol. 38 ›› Issue (11): 957-970.doi: 10.16288/j.yczz.16-102

• 综述 •    下一篇

基因组学:揭秘人类特有遗传变异对大脑皮层进化与发育的影响

浦懋懋, 姚俊, 曹新   

  1. 南京医科大学生物技术系,南京 211166
  • 收稿日期:2016-03-24 修回日期:2016-07-28 出版日期:2016-11-20 发布日期:2016-08-04
  • 通讯作者: 曹新,博士,教授,研究方向:分子遗传学。E-mail: caoxin@njmu.edu.cn
  • 作者简介:浦懋懋,本科,专业方向:生物技术。E-mail: 2206824909@qq.com

Genomics: disclose the influence of human specific genetic variation on the evolution and development of cerebral cortex

Maomao Pu, Jun Yao, Xin Cao   

  1. Department of Biology Technology, Nanjing Medical University, Nanjing 211166, China
  • Received:2016-03-24 Revised:2016-07-28 Online:2016-11-20 Published:2016-08-04

摘要: 大脑皮层是人类最高级的神经中枢,控制着人类区别于其他生物的认知能力,其结构与功能的高度复杂性起源于人类特有的遗传变异。应用基因组学技术,大脑皮层发育和进化的分子机制已经被逐步揭示。本文概述了基因组学技术如何运用于研究人类特有的遗传变异对大脑皮层发育与进化的影响,涉及采取基因组学方法研究人类和黑猩猩等其他哺乳类动物大脑皮层的基因表达差异以及重要的非编码调控序列—人类加速进化区(Human accelerated regions, HARs)在大脑发育过程中扮演的角色,并讨论了未来人类特有遗传变异在神经生物学领域的研究趋势。

关键词: 基因组, 发育, 大脑皮层, 分子进化

Abstract: Cerebral cortex, whose complexity of structure and function has derived from human specific genetic variation, is the most advanced nerve center of human, controlling the cognitive ability which distinguishes human from any other creatures. Using genomics technology, molecular mechanisms of cerebral cortex development and evolution have been disclosed. In this review, we summarize how genomics technologies are used in exploring the influence of human specific genetic variation on cerebral cortex development and evolution, including the genomics methods to study the gene expression differences among the cerebral cortex of human beings, chimpanzee and other mammals; as well as the role of the significant non-coding regulatory sequences—human accelerated regions (HARs) in the process of brain development. We also discuss the future research trends on the human specific genetic variation in the field of neurobiology.

Key words: genomics, development, cerebral cortex, molecular evolution