RRC ID 53314
著者 Niwa S.
タイトル The nephronophthisis-related gene ift-139 is required for ciliogenesis in Caenorhabditis elegans.
ジャーナル Sci Rep
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.
巻・号 6
ページ 31544
公開日 2016-8-12
DOI 10.1038/srep31544
PII srep31544
PMID 27515926
PMC PMC4981862
MeSH Animals Caenorhabditis elegans* / genetics Caenorhabditis elegans* / metabolism Cilia / genetics Cilia / metabolism Cloning, Molecular Evolution, Molecular* Kidney Diseases, Cystic* / genetics Kidney Diseases, Cystic* / metabolism Microtubule-Associated Proteins* / genetics Microtubule-Associated Proteins* / metabolism Point Mutation*
IF 3.998
引用数 10
リソース情報
線虫 tm324