Ontology highlight
ABSTRACT:
SUBMITTER: Chang B
PROVIDER: S-EPMC1592550 | biostudies-literature | 2006 Jun
REPOSITORIES: biostudies-literature
Chang Bo B Khanna Hemant H Hawes Norman N Jimeno David D He Shirley S Lillo Concepcion C Parapuram Sunil K SK Cheng Hong H Scott Alison A Hurd Ron E RE Sayer John A JA Otto Edgar A EA Attanasio Massimo M O'Toole John F JF Jin Genglin G Shou Chengchao C Hildebrandt Friedhelm F Williams David S DS Heckenlively John R JR Swaroop Anand A
Human molecular genetics 20060421 11
Centrosome- and cilia-associated proteins play crucial roles in establishing polarity and regulating intracellular transport in post-mitotic cells. Using genetic mapping and positional candidate strategy, we have identified an in-frame deletion in a novel centrosomal protein CEP290 (also called NPHP6), leading to early-onset retinal degeneration in a newly identified mouse mutant, rd16. We demonstrate that CEP290 localizes primarily to centrosomes of dividing cells and to the connecting cilium o ...[more]