title: MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome.
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.
authors.affiliation: Department of Molecular Medicine, National Public Health Institute, FI-00251 Helsinki, Finland.
authors.forename: Mira
authors.initials: M
authors.lastname: Kyttälä
authors.forename: Jonna
authors.initials: J
authors.lastname: Tallila
authors.forename: Riitta
authors.initials: R
authors.lastname: Salonen
authors.forename: Outi
authors.initials: O
authors.lastname: Kopra
authors.forename: Nicolai
authors.initials: N
authors.lastname: Kohlschmidt
authors.forename: Paulina
authors.initials: P
authors.lastname: Paavola-Sakki
authors.forename: Leena
authors.initials: L
authors.lastname: Peltonen
authors.forename: Marjo
authors.initials: M
authors.lastname: Kestilä
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics* / Q000378:metabolism; D000818:Animals; D004622:Embryo, Mammalian / Q000378:metabolism; D005006:Ethnicity / Q000235:genetics; D005407:Flagella / Q000378:metabolism*; D018507:Gene Expression Regulation, Developmental; D006801:Humans; D051379:Mice; D009154:Mutation / Q000235:genetics*; D009436:Neural Tube Defects / Q000235:genetics / Q000378:metabolism; D011506:Proteins / Q000235:genetics*; D020543:Proteome / Q000378:metabolism*; D012333:RNA, Messenger / Q000235:genetics / Q000378:metabolism; D013577:Syndrome
chemical_list: C509165:MKS1 protein, human; C509166:MKS1 protein, mouse; D011506:Proteins; D020543:Proteome; D012333:RNA, Messenger