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

Mira Kyttälä; Jonna Tallila; Riitta Salonen; Outi Kopra; Nicolai Kohlschmidt; Paulina Paavola-Sakki; Leena Peltonen; Marjo Kestilä

doi:10.1038/ng1714

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

Nat Genet. 2006 Feb;38(2):155-7. doi: 10.1038/ng1714. Epub 2006 Jan 15.

Authors

Mira Kyttälä¹, Jonna Tallila, Riitta Salonen, Outi Kopra, Nicolai Kohlschmidt, Paulina Paavola-Sakki, Leena Peltonen, Marjo Kestilä

Affiliation

¹ Department of Molecular Medicine, National Public Health Institute, FI-00251 Helsinki, Finland.

PMID: 16415886
DOI: 10.1038/ng1714

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.

Publication types

Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't

MeSH terms

Abnormalities, Multiple / genetics*
Abnormalities, Multiple / metabolism
Animals
Embryo, Mammalian / metabolism
Ethnicity / genetics
Flagella / metabolism*
Gene Expression Regulation, Developmental
Humans
Mice
Mutation / genetics*
Neural Tube Defects / genetics
Neural Tube Defects / metabolism
Proteins / genetics*
Proteome / metabolism*
RNA, Messenger / genetics
RNA, Messenger / metabolism
Syndrome

Substances

MKS1 protein, human
MKS1 protein, mouse
Proteins
Proteome
RNA, Messenger

Associated data

OMIM/249000
OMIM/603194
OMIM/607361