AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis

• Published in: Nature genetics Vol. 42; no. 2; pp. 175 - 180
• Main Authors: den Hollander, Anneke I, Dallapiccola, Bruno, Ayuso, Carmen, Caridi, Gianluca, Brancati, Francesco, Kispert, Andreas, Gudiseva, Harini V, Louie, Carrie M, Koenekoop, Robert K, Ayyagari, Radha, Leitges, Michael, Lopez, Irma, Vallespin, Elena, Otto, Edgar A, Williams, David S, Lopes, Vanda S, Valente, Enza Maria, Gleeson, Joseph G, Lancaster, Madeline A, Cremers, Frans P M, Hildebrandt, Friedhelm, O'Toole, John F, Gröne, Hermann-Josef, Ghiggeri, Gian Marco, Schlossman, Andrew M
• Format: Journal Article
• Language: English
• Published: New York Nature Publishing Group US 01.02.2010; Nature Publishing Group
• Subjects: 631/208/366; 631/208/727/2000; Agriculture; Amino Acid Substitution - genetics; Animal Genetics and Genomics; Animals; Apoptosis; Biological and medical sciences; Biomedical and Life Sciences; Biomedicine; Cancer Research; Carrier Proteins - genetics; Cell Death; Cell Line; Fundamental and applied biological sciences. Psychology; Gene Function; Genetic aspects; Genetic counseling; Genetics; Genetics of eukaryotes. Biological and molecular evolution; Human Genetics; Humans; Italy; Kidney diseases; letter; Medical sciences; Mice; Mortality; Ophthalmology; Opsins - metabolism; Photoreception; Photoreceptor Cells, Vertebrate - metabolism; Photoreceptor Cells, Vertebrate - pathology; Photoreceptor Cells, Vertebrate - ultrastructure; Photoreceptors; Physiological aspects; Proteins; Proto-Oncogene Proteins - deficiency; Proto-Oncogene Proteins - genetics; Proto-Oncogene Proteins - metabolism; Retinal degeneration; Retinal Degeneration - genetics; Retinal Degeneration - pathology; Retinopathies; Risk factors; Signal transduction; Italy; United States; Eye; Macular degeneration; Visual system; Eye disease; Retinopathy; Photoreceptor; Development; Retina

Degeneration of photoreceptors is a common feature of ciliopathies, owing to the importance of the specialized ciliary structure of these cells. Mutations in AHI1, which encodes a cilium-localized protein, have been shown to cause a form of Joubert syndrome that is highly penetrant for retinal degen...