Advertisement

Organization of the Chicken and Xenopus Peripherin/rds Gene

  • Chibo Li
  • John O’Brien
  • Muayyad R. Al-Ubaidi
  • Muna I. Naash

Abstract

Peripherin/rds is an integral membrane glycoprotein located in the rim region of rod and cone outer segment disk membranes (1). Interest in peripherin/rds has increased since the discovery of its association with different forms of human retinal diseases. Over 50 different pathogenic mutations have been identified that are associated with retinitis pigmentosa (RP), pattern dystrophy, retinitis punctata albescens, macular dystrophy (MD), butterfly-shaped MD, or cone-rod dystrophy (2). These mutations include base substitutions causing missense mutations or premature termination, and in-frame insertion/deletion mutations that change the reading frame. The majority of these mutations are located in the large intradiscal loop, emphasizing the important role played by this region in the function of peripherin/rds.

Keywords

Retinitis Pigmentosa Retinal Degeneration Macular Dystrophy Integral Membrane Glycoprotein Autosomal Dominant Retinitis Pigmentosa 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

References

  1. 1.
    Molday RS. Peripherin/rds and rom-1: molecular properties and role in photoreceptor cell degeneration. In: Osborne NN, Chader GJ, editors. Progress in retinal and eye research. Great Britain: Pergamon Press Ltd., 1994: 271-299.Google Scholar
  2. 2.
    Kohl S, Giddings I, Besch D, Apfelstedt-Sylla E, Zrenner E, Wissinger B. The role of the peripherin/RDS gene in retinal dystrophies. Acta Anatomica 1998; 162:75–78.PubMedCrossRefGoogle Scholar
  3. 3.
    Travis GH, Christerson L, Danielson PE et al. The human retinal degeneration slow (RDS) gene: chromosome assignment and structure of the mRNA. Genomics 1991; 10:733–739.PubMedCrossRefGoogle Scholar
  4. 4.
    Connell GJ, Molday RS. Molecular cloning, primary structure, and orientation of the vertebratephotoreceptor cell protein peripherin in the rod outer segment disc membrane. Biochem 1990; 29:4691– 4698.CrossRefGoogle Scholar
  5. 5.
    Moghrabi WN, Kedzierski W, Travis GH. Canine homolog and exclusion of retinal degeneration slow (rds) as the gene for early retinal degeneration (erd) in the dog. Exp Eye Res 1995; 61(5):641–643.PubMedCrossRefGoogle Scholar
  6. 6.
    Gorin MB, Snyder S, To A, Narfstrom K, Curtis R. The cat RDS transcript: candidate gene analysis and phylogenetic sequence analysis. Mamm Genome 1993; 4:544–548.PubMedCrossRefGoogle Scholar
  7. 7.
    Begy C, Bridges CD. Nucleotide and predicted protein sequence of rat retinal degeneration slow (rds). Nucl cids Res 1990; 18:3058–3058.CrossRefGoogle Scholar
  8. 8.
    Travis GH, Brennan MB, Danielson PE, Kozak CA, Sutcliffe JG. Identification of a photoreceptor-specific mRNA encoded by the gene responsible for retinal degeneration slow (rds). Nature 1989; 338:70–73.PubMedCrossRefGoogle Scholar
  9. 9.
    Weng J, Belecky-Adams T, Adler R, Travis GH. Identification of two rds/peripherin homologs in the chick retina. Invest Ophthalmol Vis Sci 1998; 39(2):440–443.PubMedGoogle Scholar
  10. 10.
    Kedzierski W, Moghrabi WN, Allen AC et al. Three homologs of rds/peripherin in Xenopus laevis photoreceptors that exhibit covalent and non-covalent interactions. J Cell Sci 1996; 109:2551–2560.PubMedGoogle Scholar
  11. 11.
    Li C, Al-Ubaidi MR and Naash MI. Isolation and characterization of the skate peripherin/rds gene. Invest Ophthalmol Vis Sci 1997; 38(4):S219.Google Scholar
  12. 12.
    Moritz OL, Molday RS. Molecular cloning, membrane topology, and localization of bovine rom-1 in rod and cone photoreceptor cells. Invest Ophthalmol Vis Sci 1996; 37(2):352–362.PubMedGoogle Scholar
  13. 13.
    Goldberg AF, Molday RS. Subunit composition of the peripherin/rds-rom-1 disk rim complex from rod photoreceptors: hydrodynamic evidence for a tetrameric quaternary structure. Biochem 1996; 35(19):6144–6149.CrossRefGoogle Scholar
  14. 14.
    Kedzierski W, Weng J, Travis GH. Analysis of the rds/peripherin.roml complex in transgenic photoreceptors that express a chimeric protein. J Biol Chem 1999; 274(41):29181–29187.PubMedCrossRefGoogle Scholar
  15. 15.
    Goldberg AFX, Loewen CJR, Molday RS. Cysteine residues of photoreceptor peripherin/rds: role in subunit assembly and autosomal dominant retinitis pigmentosa. Biochem 1998; 37(2):680–685.CrossRefGoogle Scholar
  16. 16.
    Bascom RA, Manara S, Collins L, Molday RS, Kalnins VI, Mclnnes RR. Cloning of the cDNA for a novel photoreceptor membrane protein (rom-1) identifies a disk rim protein family implicated in human retinopathies. Neuron 1992; 8:1171–1184.PubMedCrossRefGoogle Scholar
  17. 17.
    Ma J, Norton JC, Allen AC et al. Retinal degeneration slow (rds) in mouse results from simple insertion of a t haplotype-specific element into protein-coding exon II. Genomics 1995; 28:212–219.PubMedCrossRefGoogle Scholar
  18. 18.
    Cheng T, Al-Ubaidi MR, Naash MI. Structural and developmental analysis of the mouse peripherin/rds gene. Som Cell Mol Genet 1997; 23(2):165–183.CrossRefGoogle Scholar
  19. 19.
    Kajiwara K, Hahn LB, Mukai S, Travis GH, Berson EL, Dryja TP. Mutations in the human retinal degeneration slow gene in autosomal dominant retinitis pigmentosa. Nature 1991; 354:480–483.PubMedCrossRefGoogle Scholar
  20. 20.
    Bascom RA, Schappert K, Mclnnes RR. Cloning of the human and murine ROM1 genes: genomic organization and sequence conservation. Hum Mol Genet 1993; 2(4):385–391.PubMedCrossRefGoogle Scholar
  21. 21.
    Sambrook J, Fritsch EF, Maniatis T. Molecular cloning: A laboratory manual. Cold Spring Harbor Laboratory Press, 1989.Google Scholar

Copyright information

© Springer Science+Business Media New York 2001

Authors and Affiliations

  • Chibo Li
    • 1
  • John O’Brien
    • 2
  • Muayyad R. Al-Ubaidi
    • 3
  • Muna I. Naash
    • 3
  1. 1.OphthalmologyNorthwestern UniversityChicagoUSA
  2. 2.Ophthalmology & Visual ScienceUniversity of Texas School of MedicineHoustonUSA
  3. 3.Cell BiologyUniversity of Oklahoma Health Sciences CenterOklahoma CityUSA

Personalised recommendations