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Sci Rep. 2016 Aug 12;6:31544. doi: 10.1038/srep31544.

The nephronophthisis-related gene ift-139 is required for ciliogenesis in Caenorhabditis elegans.

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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.


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.

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