Mutations in mRNA export mediator GLE1 result in a fetal motoneuron disease

被引：141

作者：

Nousiainen, Heidi O. ^{[1
]}

Kestila, Marjo ^{[1
]}

Pakkasjarvi, Niklas ^{[1
]}

Honkala, Heli ^{[1
]}

Kuure, Satu ^{[2
]}

Tallila, Jonna ^{[1
]}

Vuopala, Katri ^{[3
]}

Ignatius, Jaakko ^{[4
,5
]}

Herva, Riitta ^{[6
]}

Peltonen, Leena ^{[1
,7
,8
,9
]}

机构：

[1] Natl Publ Hlth Inst, Dept Mol Med, Helsinki 00290, Finland

[2] Univ Helsinki, Inst Biomed, FIN-00014 Helsinki, Finland

[3] Lapland Cent Hosp, Dept Pathol, Rovaniemi 96100, Finland

[4] Oulu Univ Hosp, Dept Clin Genet, Oulu 90014, Finland

[5] Univ Oulu, Oulu 90014, Finland

[6] Oulu Univ Hosp, Dept Pathol, Oulu 90029, Finland

[7] Univ Helsinki, Dept Med Genet, FIN-00014 Helsinki, Finland

[8] Broad Inst, Cambridge, MA 02142 USA

[9] Wellcome Trust Sanger Inst, Hinxton CB10 1SA, England

来源：

NATURE GENETICS | 2008年 / 40卷 / 02期

基金：

英国惠康基金;

关键词：

D O I：

10.1038/ng.2007.65

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

The most severe forms of motoneuron disease manifest in utero are characterized by marked atrophy of spinal cord motoneurons and fetal immobility. Here, we report that the defective gene underlying lethal motoneuron syndrome LCCS1 is the mRNA export mediator GLE1. Our finding of mutated GLE1 exposes a common pathway connecting the genes implicated in LCCS1, LCCS2 and LCCS3 and elucidates mRNA processing as a critical molecular mechanism in motoneuron development and maturation.

引用

页码：155 / 157

页数：3

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