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dc.contributor.author Clarke G
dc.contributor.author Goldberg AFX
dc.contributor.author Vidgen D
dc.contributor.author Collins L
dc.contributor.author Ploder L
dc.contributor.author Schwarz L
dc.contributor.author Molday LL
dc.contributor.author Rossant J
dc.contributor.author Szél Ágoston
dc.contributor.author Molday SR
dc.contributor.author Birch GD
dc.contributor.author McInnes RR
dc.date.accessioned 2015-03-10T08:36:27Z
dc.date.available 2015-03-10T08:36:27Z
dc.date.issued 2000
dc.identifier.citation pagination=67-73;journalVolume=25;journalIssueNumber=1;journalTitle=NATURE GENETICS; hu
dc.identifier.uri http://repo.lib.semmelweis.hu//handle/123456789/1412
dc.identifier.uri doi:10.1038/75621
dc.description.abstract The homologous membrane proteins Rom-1 and peripherin-2 are localized to the disk rims of photoreceptor outer segments (OSs), where they associate as tetramers and larger oligomers1, 2, 3. Disk rims are thought to be critical for disk morphogenesis, OS renewal4 and the maintenance of OS structure5, but the molecules which regulate these processes are unknown. Although peripherin-2 is known to be required for OS formation (because Prph2−/− mice do not form OSs; ref. 6), and mutations in RDS (the human homologue of Prph2) cause retinal degeneration7, the relationship of Rom-1 to these processes is uncertain. Here we show that Rom1−/− mice form OSs in which peripherin-2 homotetramers are localized to the disk rims, indicating that peripherin-2 alone is sufficient for both disk and OS morphogenesis. The disks produced in Rom1−/− mice were large, rod OSs were highly disorganized (a phenotype which largely normalized with age) and rod photoreceptors died slowly by apoptosis. Furthermore, the maximal photoresponse of Rom1−/− rod photoreceptors was lower than that of controls. We conclude that Rom-1 is required for the regulation of disk morphogenesis and the viability of mammalian rod photoreceptors, and that mutations in human ROM1 may cause recessive photoreceptor degeneration. hu
dc.relation.ispartof urn:issn:1061-4036
dc.title Rom-1 is required for rod photoreceptor viability and regulation of disk morphogenesis hu
dc.type Journal Article hu
dc.date.updated 2015-02-16T12:33:55Z
dc.language.rfc3066 en hu
dc.identifier.mtmt 1420107
dc.identifier.wos 000086884000019
dc.identifier.pubmed 10802659
dc.contributor.department SE/AOK/I/Humánmorfológiai és Fejlődésbiológiai Intézet
dc.contributor.institution Semmelweis Egyetem


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