RRH, encoding the RPE-expressed opsin-like peropsin, is not mutated in retinitis pigmentosa and allied diseases

Ophthalmic Genetics

Volumn 28, Issue 1, 2007, Pages 31-37

  Ksantini, Mohamed ^b   Sénéchal, Audrey ^b   Humbert, Ghyslaine ^b   Arnaud, Bernard ^b   Hamel, Christian P ^a  

^a HÔPITAL SAINT ELOI   (France)

^b NONE

Author keywords

Mutations; Peropsin; Retinitis pigmentosa; RRH

Indexed keywords

OPSIN;

ADULT; ARTICLE; CONTROLLED STUDY; FEMALE; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; MAJOR CLINICAL STUDY; MALE; PIGMENT EPITHELIUM; PRIORITY JOURNAL; PROTEIN EXPRESSION; RETINITIS PIGMENTOSA; SCREENING;

ADULT; BASE SEQUENCE; CASE-CONTROL STUDIES; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE; RETINAL DEGENERATION; RETINITIS PIGMENTOSA; RHODOPSIN; SEQUENCE HOMOLOGY, NUCLEIC ACID;

EID: 34147185662     PISSN: 13816810     EISSN: 17445094     Source Type: Journal    
DOI: 10.1080/13816810701202052     Document Type: Article

References (23)

1. Hamel CP. Retinitis pigmentosa. Orphanet J Rare Dis. 2006; 1:40. http//www.OJRD.com/content/1/1/40
2. Maubaret C, Hamel C. Genetics of retinitis pigmentosa: metabolic classification and phenotype/genotype correlations. J Fr Ophtalmol. 2005;28:71-92.
3. Dryja TP, McGee TL, Reichel E, Hahn LB, Cowley GS, Yandell DW, Sandberg MA, Berson EL. A point mutation of the rhodopsin gene in one form of retinitis pigmentosa. Nature 1990;343:364-366.
4. Allikmets R, Singh N, Sun H, Shroyer NF, Hutchinson A, Chidambaram A, Gerrard B, Baird L, Stauffer D, Peiffer A, Rattner A, Smallwood P, Li Y, Anderson KL, Lewis RA, Nathans J, Leppert M, Dean M, Lupski JR. A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy. Nat Genet. 1997;15:236-246.
5. Martinez-Mir A, Paloma E, Allikmets R, Ayuso C, del Rio T, Dean M, Vilageliu L, Gonzalez-Duarte R, Balcells S. Retinitis pigmentosa caused by a homozygous mutation in the Stargardt disease gene ABCR. Nat Genet. 1998;18:11-12.
6. Janecke AR, Thompson DA, Utermann G, Becker C, Hubner CA, Schmid E, McHenry CL, Nair AR, Ruschendorf F, Heckenlively J, Wissinger B, Nurnberg P, Gal A. Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy. Nat Genet. 2004;36:850-854.
7. Perrault I, Hanein S, Gerber S, Barbet F, Ducroq D, Dollfus H, Hamel C, Dufier JL, Munnich A, Kaplan J, Rozet JM. Retinal dehydrogenase 12 (RDH12) mutations in Leber congenital amaurosis. Am J Hum Genet. 2004;75:639-646.
8. Marlhens F, Bareil C, Griffoin JM, Zrenner E, Amalric P, Eliaou C, Liu SY, Harris E, Redmond TM, Arnaud B, Claustres M, Hamel CP. Mutations in RPE65 cause Leber's congenital amaurosis. Nat Genet. 1997;17:139-141.
9. Gu SM, Thompson DA, Srikumari CR, Lorenz B, Finckh U, Nicoletti A, Murthy KR, Rathmann M, Kumaramanickavel G, Denton MJ, Gal A. Mutations in RPE65 cause autosomal recessive childhood-onset severe retinal dystrophy. Nat Genet. 1997;17:194-197.
10. Thompson DA, Li Y, McHenry CL, Carlson TJ, Ding X, Sieving PA, Apfelstedt-Sylla E, Gal A. Mutations in the gene encoding lecithin retinol acyltransferase are associated with early-onset severe retinal dystrophy. Nat Genet. 2001;208:123-124.
11. Senechal A, Humbert G, Surget M-O, Bazalgette C, Bazalgette C, Arnaud B, Arndt C, Laurent E, Brabet P, Hamel CP. Screening genes of the retinoid metabolism: novel LRAT mutation in Leber congenital amaurosis. Am J Ophthalmol. 2006;142:702-704.
12. Morimura H, Berson EL, Dryja TP. Recessive mutations in the RLBP1 gene encoding cellular retinaldehyde-binding protein in a form of retinitis punctata albescens. Invest Ophthalmol Vis Sci. 1999;40:1000-1004.
13. Maw MA, Kennedy B, Knight A, Bridges R, Roth KE, Mani EJ, Mukkadan JK, Nancarrow D, Crabb JW, Denton MJ. Mutation of the gene encoding cellular retinaldehyde-binding protein in auto-somal recessive retinitis pigmentosa. Nat Genet. 1997;17:198-200.
14. Burstedt MS, Sandgren O, Holmgren G, Forsman-Semb K. Bothnia dystrophy caused by mutations in the cellular retinaldehyde-binding protein gene (RLBP1) on chromosome 15q26. Invest Ophthalmol Vis Sci. 1999;40:995-1000.
15. Eichers ER, Green JS, Stockton DW, Jackman CS, Whelan J, Arch McNamara J, Johnson GJ, Lupski JR, Katsanis N. Newfoundland rod-cone dystrophy, an early-onset retinal dystrophy, is caused by splice-junction mutations in RLBP1. Am J Hum Genet. 2002;70:955-964.
16. Yamamoto H, Simon A, Eriksson U, Harris E, Berson EL, Dryja TP. Mutations in the gene encoding 11-cis retinol dehydrogenase cause delayed dark adaptation and fundus albipunctatus. Nat Genet. 1999;22:188-191.
17. Morimura H, Saindelle-Ribeaudeau F, Berson E, Dryja TP. Mutations in RGR, encoding a light-sensitive opsin homologue, in patients with retinitis pigmentosa. Nat Genet. 1999;23:393-394.
18. Shen D, Jiang M, Hao W, Tao L, Salazar M, Fong HK. A human opsin-related gene that encodes a retinaldehyde-binding protein. Biochemistry 1994;33:13117-13125.
19. Tarttelin EE, Bellingham J, Hankins MW, Foster RG, Lucas RJ. Neuropsin (Opn5): a novel opsin identified in mammalian neural tissue. FEBS Lett. 2003;554:410-416.
20. Bellingham J, Wells DJ, Foster RG. In silico characterisation and chromosomal localisation of human RRH (peropsin)-implications for opsin evolution. BMC Genomics. 2003;4:3.
21. Hao W, Fong HK. The endogenous chromophore of retinal G protein-coupled receptor opsin from the pigment epithelium. J Biol Chem. 1999;274:6085-6090.
22. Koyanagi M, Terakita A, Kubokawa K, Shichida Y. Amphioxus homologs of Go-coupled rhodopsin and peropsin having 11-cis- and all-trans-retinals as their chromophores. FEBS Lett. 2002;531:525-528.
23. Sun H, Gilbert DJ, Copeland NG, Jenkins NA, Nathans J. Peropsin, a novel visual pigment-like protein located in the apical microvilli of the retinal pigment epithelium. Proc Natl Acad Sci USA. 1997;94:9893-9898.