MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome.
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.
Kyttälä
Mira
M
Department of Molecular Medicine, National Public Health Institute, FI-00251 Helsinki, Finland.
Tallila
Jonna
J
Salonen
Riitta
R
Kopra
Outi
O
Kohlschmidt
Nicolai
N
Paavola-Sakki
Paulina
P
Peltonen
Leena
L
Kestilä
Marjo
M
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
C509165:MKS1 protein, human; C509166:MKS1 protein, mouse; D011506:Proteins; D020543:Proteome; D012333:RNA, Messenger