遗传 ›› 2010, Vol. 32 ›› Issue (3): 205-210.doi: 10.3724/SP.J.1005.2010.00205

• 综述 • 上一篇    下一篇

X连锁精神发育迟滞相关基因JARID1C研究进展

雷徐, 高晓彩, 张富昌   

  1. 西北大学生命科学学院人口与健康研究所, 西安710069
  • 收稿日期:2009-06-27 修回日期:2009-10-30 出版日期:2010-03-20 发布日期:2010-03-15
  • 通讯作者: 高晓彩;张富昌 E-mail:gaoxc@nwu.edu.cn;zhfch@nwu.edu.cn
  • 基金资助:

    陕西省科技研究发展计划项目(编号:2007K01-25)资助

Progress on X-linked mental retardation related gene JARID1C

LEI Xu, GAO Xiao-Cai, ZHANG Fu-Chang   

  1. Institute of Population and Health, College of Life Science, Northwest University, Xi’an 710069, China
  • Received:2009-06-27 Revised:2009-10-30 Online:2010-03-20 Published:2010-03-15
  • Contact: GAO Xiao-Cai;fuchang zhang E-mail:gaoxc@nwu.edu.cn;zhfch@nwu.edu.cn

摘要:

JARID1C基因属于X连锁精神发育迟滞相关基因之一, 其表达产物影响大脑神经系统中相关基因的转录和表达, 并可能与人类认知能力密切相关。对JARID1C基因功能的研究有助于理解该基因在精神发育迟滞形成和人类认知能力发展中的分子作用, 也能为精神发育迟滞的临床诊断和防治提供参考。文章对JARID1C基因的定位、分离、转录产物的生理功能及其认知功能做一综述, 并对以后的研究工作进行了展望。

关键词: JARID1C基因, 精神发育迟滞, 认知能力, 基因突变

Abstract:

JARID1C is one of the genes related to X-linked mental retardation. Its express product influences transcription and expression of the related genes in brain nervous system, and may be associated with human cognitive ability. Study on the functions of JARID1C not only helps to understand its molecular role in mental retardation and human cognitive ability, but also provides references for clinical diagnosis and prevention of mental retardation. This article reviews the progresses on JARID1C in location, isolation, physiological functions, and cognitive functions of its encoding product. The future re-search work of JARID1C is also discussed.

Key words: JARID1C gene, mental retardation, cognitive ability, gene mutation