A homozygous deletion in RPE65 in a small Sardinian family with autosomal recessive retinal dystrophy

Molecular Vision

Volumn 6, Issue 26, 2000, Pages 192-198

  Poehner, William J ^a   Fossarello, Maurizio ^b   Rapoport, Ana Lia ^a   Aleman, Tomas S ^c   Cideciyan, Artur V ^c   Jacobson, Samuel G ^c   Wright, Alan F ^d   Danciger, Michael ^a,e   Farber, Debora B ^a,f  

^a JULES STEIN EYE INSTITUTE   (United States)

^b UNIVERSITY OF CAGLIARI   (Italy)

^c UNIVERSITY OF PENNSYLVANIA   (United States)

^d WESTERN GENERAL HOSPITAL   (United Kingdom)

^e LOYOLA MARYMOUNT UNIVERSITY   (United States)

^f UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CARRIER PROTEIN; CYCLIC GMP PHOSPHODIESTERASE; EYE PROTEIN; PROTEIN; RPE65 PROTEIN, BOS TAURUS; RPE65 PROTEIN, HUMAN;

ARTICLE; COHORT ANALYSIS; ELECTRORETINOGRAPHY; ETHNOLOGY; FEMALE; FRAMESHIFT MUTATION; GENE DELETION; GENETIC SCREENING; GENETICS; HAPLOTYPE; HUMAN; ITALY; MALE; MISSENSE MUTATION; MOLECULAR GENETICS; NUCLEOTIDE SEQUENCE; PATHOLOGY; PEDIGREE; PIGMENT EPITHELIUM; POLYACRYLAMIDE GEL ELECTROPHORESIS; RETINA DEGENERATION; SINGLE STRAND CONFORMATION POLYMORPHISM; VISUAL ACUITY;

3',5'-CYCLIC-GMP PHOSPHODIESTERASE; BASE SEQUENCE; CARRIER PROTEINS; COHORT STUDIES; DNA MUTATIONAL ANALYSIS; ELECTROPHORESIS, POLYACRYLAMIDE GEL; ELECTRORETINOGRAPHY; EYE PROTEINS; FEMALE; FRAMESHIFT MUTATION; GENETIC SCREENING; HAPLOTYPES; HUMANS; ITALY; MALE; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; PEDIGREE; PIGMENT EPITHELIUM OF EYE; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; PROTEINS; RETINAL DEGENERATION; SEQUENCE DELETION; VISUAL ACUITY;

EID: 0034735147     PISSN: 10900535     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (39)

1. Cavalli-Sforza LL, Menozzi P, Piazza A. The history and geography of human genes. Princeton (NJ): Princeton University Press; 1994.
2. Cappello N, Rendine S, Griffo R, Mameli GE, Succa V, Vona G, Piazza A. Genetic analysis of Sardinia: I. data on 12 polymorphisms in 21 linguistic domains. Ann Hum Genet 1996; 60:125-41.
3. Daiger SP, Rossiter BF, Greenberg J, Christoffels A, Hide W. Data services and software for identifying genes and mutations causing retinal degeneration. Invest Ophthalmol Vis Sci 1998; 39:8295.
4. Huang SH, Pittler SJ, Huang X, Oliveira L, Berson EL, Dryja TP. Autosomal recessive retinitis pigmentosa caused by mutations in the alpha subunit of rod cGMP phosphodiesterase. Nat Genet 1995; 11:468-71.
5. Dryja TP, Rucinski DE, Chen SH, Berson EL. Frequency of mutations in the gene encoding the alpha subunit of rod cGMP-phosphodiesterase in autosomal recessive retinitis pigmentosa. Invest Ophthalmol Vis Sci 1999; 40:1859-65.
6. McLaughlin ME, Sandberg MA, Berson EL, Dryja TP. Recessive mutations in the gene encoding the beta-subunit of rod phosphodiesterase in patients with retinitis pigmentosa. Nat Genet 1993; 4:130-4.
7. McLaughlin ME, Ehrhart TE, Berson EL, Dryja TP. Mutation spectrum of the gene encoding the beta subunit of rod phosphodiesterase among patients with autosomal recessive retinitis pigmentosa. Proc Natl Acad Sci U S A 1995; 92:3249-53.
8. Danciger M, Blaney J, Gao YQ, Zhao DY, Heckenlively JR, Jacobson SG. Farber DB. Mutations in the PDE6B gene in autosomal recessive retinitis pigmentosa. Genomics 1995; 30:1-7.
9. Danciger M, Heilbron V, Gao YQ, Zhao DY, Jacobson SG, Farber DB. A homozygous PDE6B mutation in a family with autosomal recessive retinitis pigmentosa. Mol Vis 1996; 2:10.
10. Bayes M, Giordano M, Balcells S, Grinberg D, Vilageliu L, Martinez I, Ayuso C, Benitez J, Ramos-Arroyo MA, Chivelet P, et al. Homozygous tandem duplication within the gene encoding the beta-subunit of rod phosphodiesterase as a cause for autosomal recessive retinitis pigmentosa. Hum Mutat 1995; 5:228-34.
11. Valverde D, Solans T, Grinberg D, Balcells S, Vilageliu L, Bayes M, Chivelet P, Besmond C, Goossens M, Gonzalez-Duarte R, Baiget M. A novel mutation in exon 17 of the beta-subunit of rod phosphodiesterase in two RP sisters of a consanguineous family. Hum Genet 1996; 97:35-8.
12. 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; 17:139-41.
13. 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; 17:194-7.
14. Morimura H, Fishman GA, Grover SA, Fulton AB, Berson EL, Dryja TP. Mutations in the RPE65 gene in patients with autosomal recessive retinitis pigmentosa or leber congenital amaurosis. Proc Natl Acad Sci U S A 1998; 95:3088-93.
15. Marlhens F, Griffoin JM, Bareil C, Arnaud B, Claustres M, Hamel CP. Autosomal recessive retinal dystrophy associated with two novel mutations in the RPE65 gene. Eur J Hum Genet 1998; 6:527-31.
16. Lotery AJ, Namperumalsamy P, Jacobson SG, Weleber RG, Fishman GA, Musarella MA, Hoyt CS, Heon E, Levin A, Jan J, Lam B, Carr RE, Franklin A, Radha S, Andorf JE, Sheffield VC, Stone EM. Mutation analysis of 3 genes in patients with Leber congenital amaurosis. Arch Ophthalmol 2000; 118:538-43.
17. Bavik, CO, Levy F, Hellman U, Wernstedt C, Eriksson U. The retinal pigment epithelial membrane receptor for plasma retinol-binding protein. Isolation and cDNA cloning of the 63-kDa protein. J Biol Chem 1993; 268:20540-6.
18. Hamel CP, Tsilou E, Harris E, Pfeffer BA, Hooks JJ, Derrick B, Redmond TM. A developmentally regulated microsomal protein specific for the pigment epithelium of vertebrate retina. J Neurosci Res 1993a; 34:414-25.
19. Hamel CP, Tsilou E, Pfeffer BA, Hooks JJ, Detrick B, Redmond TM. Molecular cloning and expression of RPE65, a novel retinal pigment epithelium-specific microsomal protein that is post-transcriptionally regulated in vitro. J Biol Chem 1993; 268:15751-7.
20. Nicoletti A, Wong DJ, Kawase K, Gibson LH, Yang-Feng TL, Richards JE, Thompson DA. Molecular characterization of the human gene encoding an abundant 61 kDa protein specific to the retinal pigment epithelium. Hum Mol Genet 1995; 4:641-9.
21. Redmond TM, Yu S, Lee E, Bok D, Hamasaki D, Chen N, Goletz P, Ma JX, Crouch RK, Pfeifer K. Rpe65 is necessary for production of 11-cis-vitamin A in the retinal visual cycle. Nat Genet 1998; 20:344-51.
22. Van Hooser JP, Aleman TS, He YG, Cideciyan AV, Kuksa V, Pittler SJ, Stone EM, Jacobson SG, Palczewski K. Rapid restoration of visual pigment and function with oral retinoid in a mouse model of childhood blindness. Proc Natl Acad Sci USA 2000; 97:8623-8.
23. Weber B, Riess O, Daneshvar H, Graham R, Hayden MR. (CA)n dinucleotide repeat at the PDEB locus in 4p16.3. Hum Mol Genet 1993; 2:827.
24. Weber B, Riess O, Hutchinson G, Collins C, Lin BY, Kowbel D, Andrew S, Schappert K, Hayden MR. Genomic organization and complete sequence of the human gene encoding the beta-subunit of the cGMP phosphodiesterase and its localisation to 4p 16.3. Nucleic Acids Res 1991; 19:6263-8.
25. Nicoletti A, Kawase K, Thompson DA. Promoter analysis of RPE65, the gene encoding a 61-kDa retinal pigment epithelium-specific protein. Invest Ophthalmol Vis Sci 1998; 39:637-44.
26. Fossarello M, Bertini C, Galantuomo MS, Cao A, Serra A, Pirastu M. Deletion in the peripherin/RDS gene in two unrelated Sardinian families with autosomal dominant butterfly-shaped macular dystrophy. Arch Ophthalmol 1996; 114:448-56.
27. Jacobson SG, Buraczynska M, Milam AH, Chen C, Jarvalainen M, Fujita R, Wu W, Huang Y, Cideciyan AV, Swaroop A. Disease expression in X-linked retinitis pigmentosa caused by a putative null mutation in the RPGR gene. Invest Ophthalmol Vis Sci 1997; 38:1983-97.
28. Jacobson SG, Voigt WJ, Parel JM, Apathy PP, Nghiem-Phu L, Myers SW, Patella VM. Automated light- and dark-adapted perimetry for evaluating retinitis pigmentosa. Ophthalmology 1986; 93:1604-11.
29. Cideciyan AV, Haeseleer F, Fariss RN, Aleman TS, Jang GF, Verlinde CLMJ, Marmor MF, Jacobson SG, Palczewski K. Rod and cone visual cycle consequences of a null mutation in the 11-cis-retinol dehydrogenase gene in man. Vis Neurosci. In press 2000.
30. Fossarello M, Serra A, Mansfield D, Wright A, Loudianos J, Pirastu M, Orzalesi N. Genetic and epidemiological study of autosomal dominant (ADRP) and autosomal recessive (ARRP) retinitis pigmentosa in Sardinia. In: Anderson RE, Hollyfield JG, La Vail MM, editors. Retinal degeneration. New York: Plenum Press, 1994. p. 79-90.
31. Wright AF, Mansfield DC, Bruford EA, Teague PW, Thomson KL, Riise R, Jay M, Patton MA, Jeffery S, Schinzel A, Tommerup N, Fossarello M. Genetic studies in autosomal recessive forms of retinitis pigmentosa. In: Anderson RE, La Vail MM, Hollyfield JG, editors. Degenerative diseases of the retina. New York: Plenum Press; 1995. p.293-302.
32. Culbertson MR. RNA surveillance. Unforeseen consequences for gene expression, inherited genetic disorders and cancer. Trends Genet 1999; 15:74-80.
33. Felius J, Bingham EL, Kemp JA, Khan NW, Thompson DA, Sieving PA. Visual function in carriers of RPE65 gene mutations. Invest Ophthalmol Vis Sci 2000; 41:8885.
34. Lorenz B, Gyurus P, Preising M, Bremser D, Gu S, Andrassi M, Gerth C, Gal A. Early-onset severe rod-cone dystrophy in young children with RPE65 mutations. Invest Ophthalmol Vis Sci 2000; 41:2735-42.
35. Lyubarsky AL, Chen C, Simon MI, Pugh EN Jr. Mice lacking G-protein receptor kinase 1 have profoundly slowed recovery of cone-driven retinal responses. J Neurosci 2000; 20:2209-17.
36. Cideciyan AV, Zhao X, Nielsen L, Khani SC, Jacobson SG, Palczewski K. Null mutation in the rhodopsin kinase gene slows recovery kinetics of rod and cone phototransduction in man. Proc Natl Acad Sci U S A 1998; 95:328-33.
37. Perlman I. Kinetics of bleaching and regeneration of rhodopsin in abnormal (RCS) and normal albino rats in vivo. J Physiol 1978; 278:141-59.
38. Kemp CM, Faulkner DJ, Jacobson SG. The distribution and kinetics of visual pigments in the cat retina. Invest Ophthalmol Vis Sci 1988; 29:1056-65.
39. Kemp CM, Jacobson SG. Rhodopsin levels in the central retinas of normal miniature poodles and those with progressive rod-cone degeneration. Exp Eye Res 1992; 54:947-56.