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Nephronophthisis, a ciliopathy, is the most common genetic cause of renal disease. Here, I cloned and analysed a nephronophthisis-related gene <jats:italic>ift-139<\/jats:italic> in <jats:italic>Caenorhabditis elegans. ift-139<\/jats:italic> was exclusively expressed in ciliated neurons in <jats:italic>C. elegans<\/jats:italic>. Genetic and cellular analyses suggest that <jats:italic>ift-139<\/jats:italic> plays a role in retrograde intraflagellar transport and is required for cilia formation. A homologous point mutation that causes ciliopathy disrupted the function of <jats:italic>ift-139<\/jats:italic> in <jats:italic>C. elegans. ift-139<\/jats:italic> is an orthologue of human <jats:italic>TTC21B<\/jats:italic>, mutations in which are known to cause nephronophthisis 12 and short-rib thoracic dysplasia 4. These results suggest that <jats:italic>ift-139<\/jats:italic> is evolutionarily conserved and fundamental to the formation of cilia.<\/jats:p>","DOI":"10.1038\/srep31544","type":"journal-article","created":{"date-parts":[[2016,8,12]],"date-time":"2016-08-12T09:13:03Z","timestamp":1470993183000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":25,"title":["The nephronophthisis-related gene ift-139 is required for ciliogenesis in Caenorhabditis elegans"],"prefix":"10.1038","volume":"6","author":[{"given":"Shinsuke","family":"Niwa","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2016,8,12]]},"reference":[{"key":"BFsrep31544_CR1","doi-asserted-by":"publisher","first-page":"813","DOI":"10.1038\/nrm952","volume":"3","author":"JL Rosenbaum","year":"2002","unstructured":"Rosenbaum, J. L. & Witman, G. B. Intraflagellar transport. 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