Rom-1 is required for rod photoreceptor viability and the regulation of disk morphogenesis

Geoff Clarke, Andrew F X Goldberg, Danka Vidgen, Leslie Collins, Lynda Ploder, Lois Schwarz, Laurie L. Molday, Janet Rossant, A. Szél, Robert S. Molday, David G. Birch, Roderick R. McInnes

Research output: Contribution to journalArticle

118 Citations (Scopus)

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 oligomers. Disk rims are thought to be critical for disk morphogenesis, OS renewal and the maintenance of OS structure, 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 degeneration, 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.

Original languageEnglish
Pages (from-to)67-73
Number of pages7
JournalNature Genetics
Volume25
Issue number1
DOIs
Publication statusPublished - May 2000

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Peripherins
Retinal Rod Photoreceptor Cells
Morphogenesis
Rod Cell Outer Segment
Retinal Degeneration
Mutation
Membrane Proteins
Maintenance
Apoptosis
Phenotype

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

Clarke, G., Goldberg, A. F. X., Vidgen, D., Collins, L., Ploder, L., Schwarz, L., ... McInnes, R. R. (2000). Rom-1 is required for rod photoreceptor viability and the regulation of disk morphogenesis. Nature Genetics, 25(1), 67-73. https://doi.org/10.1038/75621

Rom-1 is required for rod photoreceptor viability and the regulation of disk morphogenesis. / Clarke, Geoff; Goldberg, Andrew F X; Vidgen, Danka; Collins, Leslie; Ploder, Lynda; Schwarz, Lois; Molday, Laurie L.; Rossant, Janet; Szél, A.; Molday, Robert S.; Birch, David G.; McInnes, Roderick R.

In: Nature Genetics, Vol. 25, No. 1, 05.2000, p. 67-73.

Research output: Contribution to journalArticle

Clarke, G, Goldberg, AFX, Vidgen, D, Collins, L, Ploder, L, Schwarz, L, Molday, LL, Rossant, J, Szél, A, Molday, RS, Birch, DG & McInnes, RR 2000, 'Rom-1 is required for rod photoreceptor viability and the regulation of disk morphogenesis', Nature Genetics, vol. 25, no. 1, pp. 67-73. https://doi.org/10.1038/75621
Clarke G, Goldberg AFX, Vidgen D, Collins L, Ploder L, Schwarz L et al. Rom-1 is required for rod photoreceptor viability and the regulation of disk morphogenesis. Nature Genetics. 2000 May;25(1):67-73. https://doi.org/10.1038/75621
Clarke, Geoff ; Goldberg, Andrew F X ; Vidgen, Danka ; Collins, Leslie ; Ploder, Lynda ; Schwarz, Lois ; Molday, Laurie L. ; Rossant, Janet ; Szél, A. ; Molday, Robert S. ; Birch, David G. ; McInnes, Roderick R. / Rom-1 is required for rod photoreceptor viability and the regulation of disk morphogenesis. In: Nature Genetics. 2000 ; Vol. 25, No. 1. pp. 67-73.
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