MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome

被引：185

作者：

Kyttälä, M

Tallila, J

Salonen, R

Kopra, O

Kohlschmidt, N

Paavola-Sakki, P

Peltonen, L ^{[1
]}

Kestïla, M

机构：

[1] Natl Publ Hlth Inst, Dept Mol Med, FI-00251 Helsinki, Finland

[2] Univ Helsinki, Dept Med Genet, FI-00014 Helsinki, Finland

[3] Dept Med Genet, FI-00101 Helsinki, Finland

[4] Univ Helsinki Hosp, Dept Med, FI-00014 Helsinki, Finland

[5] Harvard Univ, Broad Inst, Cambridge, MA 02139 USA

[6] MIT, Cambridge, MA 02139 USA

来源：

NATURE GENETICS | 2006年 / 38卷 / 02期

基金：

芬兰科学院; 美国国家卫生研究院;

关键词：

D O I：

10.1038/ng1714

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Meckel syndrome (MKS) is a severe fetal developmental disorder reported in most populations. The clinical hallmarks are occipital meningoencephalocele, cystic kidney dysplasia, fibrotic changes of the liver and polydactyly. Here we report the identification of a gene, MKS1, mutated in MKS families linked to 17q. Mks1 expression in mouse embryos, as determined by in situ hybridization, agrees well with the tissue phenotype of MKS. Comparative genomics and proteomics data implicate MKS1 in ciliary functions.

引用

页码：155 / 157

页数：3

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