国际眼科纵览 ›› 2013, Vol. 37 ›› Issue (3): 210-214.doi: 10 3760/ cma. j. issn.16735803 2013 03 015

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基因突变导致的mRNA异常剪接与先天性白内障

吴彬阁 杨振菲 霍建新 朱思泉   

  1. 014010 内蒙古, 包头医学院第一附属医院(吴彬阁、霍建新); 100730 首都医科大学附属北京同仁医院 北京同仁眼科中心 北京市眼科学与视觉科学重点实验室(杨振菲、朱思泉)。吴彬阁、 杨振菲系在读研究生
  • 收稿日期:2013-01-15 出版日期:2013-06-22 发布日期:2013-06-27
  • 通讯作者: 朱思泉,Email: siquanzhu@sina.com E-mail:siquanzhu@sina.com

Aberrant splicing of the mRNA second to mutation and congenital cataract

WU Bin-ge, YANG Zhen-fei,  HUO Jian-xin, ZHU Si-quan   

  1. 1 The First Affiliated Hospital of Baotou Medical University, Baotou 014010, China;  2 Beijing Ophthalmology & Visual Sciences Key Laboratory, Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing 100730, China
  • Received:2013-01-15 Online:2013-06-22 Published:2013-06-27
  • Contact: ZHU Si-quan, Email: siquanzhu@sina.com E-mail:siquanzhu@sina.com

摘要: 先天性白内障约1/3是遗传性的,研究发现基因突变不仅可直接改变蛋白质序列,也可导致mRNA异常剪接而致病。突变位点可以通过干扰组成性剪接位点和选择性剪接位点,影响剪接体组分及选择性剪接调节因子而导致mRNA的异常剪接。目前的研究发现,突变位点可以干扰组成性剪接位点而导致mRNA的异常剪接,进而造成先天性白内障。本文就先天性白内障与选择性剪接的关系作一综述。

Abstract: Congenital cataracts are the most common cause of treatable childhood blindness, onethird of which are inherited. More and more studies identify many mutations cause diseases because of mRNA aberrant splicing rather than altering protein sequences. Mutations can cause mRNA aberrant splicing through interfering the constitutive splice sites and alternative splice sites, disturbing some splice  components and alternative splicing regulatory factors. Studies show that mutations result congenital cataracts through interfering constitutive splice site. In this article, we will discuss the relationships between congenital cataract and mRNA aberrant splicing.