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.

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
  • Ethnic Groups / 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