RNA-binding proteins in human genetic disease

被引：536

作者：

Lukong, Kiven E. ^{[1
,2
,3
]}

Chang, Kai-wei ^{[1
,2
,3
]}

Khandjian, Edouard W. ^{[4
,5
]}

Richard, Stephane ^{[1
,2
,3
]}

机构：

[1] McGill Univ, Terry Fox Mol Oncol Grp, Montreal, PQ H3T 1E2, Canada

[2] McGill Univ, Bloomfield Ctr Res Aging, Lady Davis Inst Med Res, Sir Mortimer B Davis Jewish Gen Hosp,Dept Med, Montreal, PQ H3T 1E2, Canada

[3] McGill Univ, Bloomfield Ctr Res Aging, Lady Davis Inst Med Res, Sir Mortimer B Davis Jewish Gen Hosp,Dept Oncol, Montreal, PQ H3T 1E2, Canada

[4] Univ Laval, Ctr Rech Robert Giffard, Quebec City, PQ G1J 2G3, Canada

[5] Univ Laval, Dept Med Biol, Quebec City, PQ G1J 2G3, Canada

来源：

TRENDS IN GENETICS | 2008年 / 24卷 / 08期

基金：

加拿大健康研究院;

关键词：

D O I：

10.1016/j.tig.2008.05.004

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

RNA-binding proteins (RBPs) are key components in RNA metabolism, regulating the temporal, spatial and functional dynamics of RNAs. Altering the expression of RBPs has profound implications for cellular physiology, affecting RNA processes from pre-mRNA splicing to protein translation. Recent genetic and proteomic data and evidence from animal models reveal that RBPs are involved in many human diseases ranging from neurologic disorders to cancer. Here we review the emerging evidence showing the involvement of RBPs in many disease networks and conclude that defects in RNA metabolism caused by aberrations in RBPs might underlie a broader spectrum of complex human disorders.

引用

页码：416 / 425

页数：10

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