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

• Published in: Nature genetics Vol. 38; no. 2; pp. 155 - 157
• Main Authors: Peltonen, Leena, Kyttälä, Mira, Tallila, Jonna, Salonen, Riitta, Kopra, Outi, Kohlschmidt, Nicolai, Paavola-Sakki, Paulina, Kestilä, Marjo
• Format: Journal Article
• Language: English
• Published: London Nature Publishing Group 01.02.2006
• Subjects: Abnormalities, Multiple - genetics; Abnormalities, Multiple - metabolism; Animals; Biological and medical sciences; Child development deviations; Complications and side effects; Developmental disabilities; Diagnosis; DNA sequencing; Embryo, Mammalian - metabolism; Embryos; Ethnic Groups - genetics; Flagella - metabolism; Fundamental and applied biological sciences. Psychology; Gene expression; Gene Expression Regulation, Developmental; Gene mutations; Genes; Genetic aspects; Genetics of eukaryotes. Biological and molecular evolution; Genomics; Health aspects; Humans; Hybridization; Kidneys; Malformations of the nervous system; Medical sciences; Mice; Mutation; Mutation - genetics; Neural Tube Defects - genetics; Neural Tube Defects - metabolism; Neurology; Nucleotide sequencing; Prenatal development; Proteins - genetics; Proteome - metabolism; Risk factors; RNA, Messenger - genetics; RNA, Messenger - metabolism; Rodents; Syndrome; Finland; Nervous system diseases; Urinary system disease; Malformation; Diseases of the osteoarticular system; Digestive diseases; Proteome; Meckel syndrome; Genetic disease
• DOI: 10.1038/ng1714
• ISSN: 1061-4036

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.