title: The nephronophthisis-related gene ift-139 is required for ciliogenesis in Caenorhabditis elegans.
abstract: Defects in cilia cause a spectrum of diseases known as ciliopathies. Nephronophthisis, a ciliopathy, is the most common genetic cause of renal disease. Here, I cloned and analysed a nephronophthisis-related gene ift-139 in Caenorhabditis elegans. ift-139 was exclusively expressed in ciliated neurons in C. elegans. Genetic and cellular analyses suggest that ift-139 plays a role in retrograde intraflagellar transport and is required for cilia formation. A homologous point mutation that causes ciliopathy disrupted the function of ift-139 in C. elegans. ift-139 is an orthologue of human TTC21B, mutations in which are known to cause nephronophthisis 12 and short-rib thoracic dysplasia 4. These results suggest that ift-139 is evolutionarily conserved and fundamental to the formation of cilia.
authors: Frontier Research Institute for Interdisciplinary Sciences and Graduate School of Life Sciences, Tohoku University, Aramaki Aza Aoba 6-3, Aobaku, Sendai, Miyagi 980-8578, Japan.
authors: Shinsuke
authors: S
authors: Niwa
mesh_terms: D000818:Animals; D017173:Caenorhabditis elegans / Q000235:genetics / Q000378:metabolism; D002923:Cilia / Q000235:genetics / Q000378:metabolism; D003001:Cloning, Molecular; D019143:Evolution, Molecular; D052177:Kidney Diseases, Cystic / Q000235:genetics / Q000378:metabolism; D008869:Microtubule-Associated Proteins / Q000235:genetics / Q000378:metabolism; D017354:Point Mutation
chemical_list: D008869:Microtubule-Associated Proteins