@article{RonquilloHankeGogokhiaReveloetal.2016,
  author    = {Ronquillo, Cecinio C. and Hanke-Gogokhia, Christin and Revelo, Monica P. and Frederick, Jeanne M. and Jiang, Li and Baehr, Wolfgang},
  title     = {Ciliopathy-associated IQCB1/NPHP5 protein is required for mouse photoreceptor outer segment formation},
  series = {The FASEB journal : the official journal of the Federation of American Societies for Experimental Biology},
  volume    = {30},
  journal   = {The FASEB journal : the official journal of the Federation of American Societies for Experimental Biology},
  publisher = {Federation of American Societies for Experimental Biology},
  address   = {Bethesda},
  issn      = {0892-6638},
  doi       = {10.1096/fj.201600511R},
  pages     = {3400 -- 3412},
  year      = {2016},
  abstract  = {Null mutations in the human IQCB1/NPHP5 (nephrocystin-5) gene that encodes NPHP5 are the most frequent cause of Senior-LOken syndrome, a ciliopathy that is characterized by Leber congenital amaurosis and nephronophthisis. We generated germline Nphp5-knockout mice by placing a -Geo gene trap in intron 4, thereby truncating NPHP5 at Leu87 and removing all known functional domains. At eye opening, Nphp5(-/-) mice exhibited absence of scotopic and photopic electroretinogram responses, a phenotype that resembles Leber congenital amaurosis. Outer segment transmembrane protein accumulation in Nphp5(-/-) endoplasmic reticulum was evident as early as postnatal day (P)6. EGFP-CETN2, a centrosome and transition zone marker, identified basal bodies in Nphp5(-/-) photoreceptors, but without fully developed transition zones. Ultrastructure of P6 and 10 Nphp5(-/-) photoreceptors revealed aberrant transition zones of reduced diameter. Nphp5(-/-) photoreceptor degeneration was complete at 1 mo of age but was delayed significantly in Nphp5(-/-);Nrl(-/-) (cone only) retina. Nphp5(-/-) mouse embryonic fibroblast developed normal cilia, and Nphp5(-/-) kidney histology at 1 yr of age showed no significant pathology. Results establish that nephrocystin-5 is essential for photoreceptor outer segment formation but is dispensable for kidney and mouse embryonic fibroblast ciliary formation.},
  language  = {en}
}