MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome
MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome
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DOI：
10.1038/ng1714
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发表时间：
2006-02-01
期刊：
影响因子：
30.8
通讯作者：
Kestïla, M
中科院分区：
文献类型：
--
作者：
Kyttälä, M;Tallila, J;Kestïla, M
Meckel综合征（MKS）是一种严重的胎儿发育障碍，在大多数人群中报道。临床特征为枕部脑膜脑膨出、囊性肾发育不良、肝脏纤维化改变和多指畸形。在这里，我们报告的一个基因，MKS 1，突变的MKS家庭连接到17 q的鉴定。MKS 1在小鼠胚胎中的表达，通过原位杂交确定，与MKS的组织表型一致。比较基因组学和蛋白质组学数据暗示MKS 1在纤毛功能。
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.