Ontology highlight
ABSTRACT:
SUBMITTER: Dowdle WE
PROVIDER: S-EPMC3135817 | biostudies-literature | 2011 Jul
REPOSITORIES: biostudies-literature
Dowdle William E WE Robinson Jon F JF Kneist Andreas A Sirerol-Piquer M Salomé MS Frints Suzanna G M SG Corbit Kevin C KC Zaghloul Norann A NA van Lijnschoten Gesina G Mulders Leon L Verver Dideke E DE Zerres Klaus K Reed Randall R RR Attié-Bitach Tania T Johnson Colin A CA García-Verdugo José Manuel JM Katsanis Nicholas N Bergmann Carsten C Reiter Jeremy F JF
American journal of human genetics 20110701 1
Nearly every ciliated organism possesses three B9 domain-containing proteins: MKS1, B9D1, and B9D2. Mutations in human MKS1 cause Meckel syndrome (MKS), a severe ciliopathy characterized by occipital encephalocele, liver ductal plate malformations, polydactyly, and kidney cysts. Mouse mutations in either Mks1 or B9d2 compromise ciliogenesis and result in phenotypes similar to those of MKS. Given the importance of these two B9 proteins to ciliogenesis, we examined the role of the third B9 protein ...[more]