학술논문
MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome.
Document Type
Article
Author
Source
Subject
*SYNDROMES
*DISEASES
*NEURAL tube defects
*CYSTIC kidney disease
*DYSPLASIA
*CELL transformation
*LIVER
*GENES
*GENETIC mutation
*GENOMICS
*PROTEOMICS
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Language
ISSN
1061-4036
Abstract
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. [ABSTRACT FROM AUTHOR]