Predicting the pathogenicity of RPE65 mutations

Human Mutation

Volumn 30, Issue 8, 2009, Pages 1183-1188

  Philpa, A R ^a,b   Jin, M ^c   Li, S ^d   Schindler, E I ^a   Iannaccone, A ^f   Lam, B L ^g   Weleber, R G ^h   Fishman, G A ⁱ   Jacobson, S G ^j   Mullins, R F ^a   Travis, Gabriel H ^d,e   Stone, Edwin M ^a,b  

^a UNIVERSITY OF IOWA   (United States)

^b UNIVERSITY OF IOWA HOSPITALS AND CLINICS   (United States)

^c LOUISIANA STATE UNIVERSITY HEALTH SCIENCES CENTER   (United States)

^d JULES STEIN EYE INSTITUTE   (United States)

^e UNIVERSITY OF CALIFORNIA   (United States)

^f UNIVERSITY OF TENNESSEE HEALTH SCIENCE CENTER   (United States)

^g UNIVERSITY OF MIAMI MILLER SCHOOL OF MEDICINE   (United States)

^h OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

ⁱ UNIVERSITY OF ILLINOIS AT CHICAGO   (United States)

^j UNIVERSITY OF PENNSYLVANIA   (United States)

more..

Author keywords

Leber congenital amaurosis; Retinoid; RPE65

Indexed keywords

ALANINE; ARGININE; ASPARAGINE; COMPLEMENTARY DNA; GLUTAMINE; ISOMERASE; ISOMEROHYDROLASE; LYSINE; PROTEIN RPE65; RETINOID ISOMERASE; RETINOL; UNCLASSIFIED DRUG; VALINE; VISUAL PROTEINS AND PIGMENTS;

ACCURACY; AMINO ACID SUBSTITUTION; ARTICLE; CELL CULTURE; CELL STRAIN HEK293; CONTROLLED STUDY; ENZYME ACTIVITY; ESTIMATE OF PATHOGENIC PROBABILITY; GENE DELETION; GENE FUNCTION; GENETIC ALGORITHM; GENETIC TRANSFECTION; GENETIC VARIABILITY; HUMAN; HUMAN CELL; ISOMERIZATION; LEBER CONGENITAL AMAUROSIS; MAJOR CLINICAL STUDY; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PATHOGENICITY; PIGMENT EPITHELIUM; PRIORITY JOURNAL; PROBABILITY; PROTEIN STRUCTURE;

ALGORITHMS; AMINO ACID SEQUENCE; BASE SEQUENCE; BIOCATALYSIS; CARRIER PROTEINS; CELL LINE; DNA PRIMERS; DNA, COMPLEMENTARY; EYE PROTEINS; FEMALE; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTAGENESIS, SITE-DIRECTED; MUTATION, MISSENSE; PEDIGREE; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION;

EID: 67749097721     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.21033     Document Type: Article

References (22)

1. Barnetson RA, Cartwright N, van Vliet A, Haq N, Drew K, Farrington S, Williams N, Warner J, Campbell H, Porteous ME, Dunlop MG. 2008. Classification of ambiguous mutations in DNA mismatch repair genes identified in a population-based study of colorectal cancer. Hum Mutat 29:367-374.
2. Bereta G, Kiser P, Golczak M, Sun W, Heon E, Saperstein D, Palczewski K. 2008. Impact of retinal disease-associated RPE65 mutations on retinoid isomerization. Biochemistry 47:9856-9865.
3. Goldgar DE, Easton DF, Byrnes GB, Spurdle AB, Iversen ES, Greenblatt MS. 2008. Genetic evidence and integration of various data sources for classifying uncertain variants into a single model. Hum Mutat 29:1265-1272.
4. Gu S, Thompson D, Srikumari C, Lorenz B, Finckh U, Nicoletti A, Murthy K, Rathmann M, Kumaramanickavel G, Denton M, Gal A. 1997. Mutations in RPE65 cause autosomal recessive childhood-onset severe retinal dystrophy. Nat Genet 17:194-197.
5. Henikoff S, Henikoff J. 1992. Amino acid substitution matrices from protein blocks. Proc Natl Acad Sci USA 17:139-141.
6. Jin M, Li S, Moghrabi W, Sun H, Travis G. 2005. RPE65 is the retinoid isomerase in bovine retinal pigment epithelium. Cell 122:449-459.
7. Jin M, Yuan Q, Li S, Travis G. 2007. Role of LRAT on the retinoid isomerase activity and membrane association of Rpe65. J Biol Chem 282:20915-20924.
8. Marlhens F, Bereil C, Griffoin J, Zrenner E, Amalric P, Eliaou C, Liu S, Harris E, Remond T, Arnaud B, Claustres M, Hamel CP. 1997. Mutations in RPE65 cause Leber's congenital amaurosis. Nat Genet 17:139-141.
9. Mata N, Radu R, Clemmons R, Travis G. 2002. Isomerization and oxidation of vitamin a in cone-dominant retinas: a novel pathway for visual-pigment regeneration in daylight. Neuron 36:69-80.
10. Mata N, Moghrabi W, Lee J, Bui T, Radu R, Horwitz J, Travis G. 2004. Rpe65 is a retinyl ester binding protein that presents insoluble substrate to the isomerase in retinal pigment epithelial cells. J Biol Chem 279:635-643.
11. Moiseyev G, Crouch R, Goletz P, Oatis JJ, Redmond T, Ma J. 2003. Retinyl esters are the substrate for isomerohydrolase. Biochemistry 42:2229-2238.
12. Moiseyev G, Chen Y, Takahashi Y, Wu B, Ma J. 2005. RPE65 is the isomerohydrolase in the retinoid visual cycle. Proc Natl Acad Sci USA 102:12413-12418.
13. Morimura H, Fishman G, Grover S, Fulton A, Berson E, Dryja T. 1998. Mutations in the RPE65 gene in patients with autosomal recessive retinitis pigmentosa or Leber congenital amaurosis. Proc Natl Acad Sci USA 95:3088-3093.
14. Perrault I, Rozet JM, Ghazi I, Leowski C, Bonnemaison M, Gerber S, Ducroq D, Cabot A, Souied E, Dufier JL, Munnich A, Kaplan J. 1999. Different functional outcome of RetGC1 and RPE65 gene mutations in Leber congenital amaurosis. Am J Hum Genet 64:1225-1228.
15. Redmond T, Poliakov E, Yu S, Tsai J, Lu Z, Gentleman S. 2005. Mutation of key residues of RPE65 abolishes its enzymatic role as isomerohydrolase in the visual cycle. Proc Natl Acad Sci USA 102:13658-13663.
16. Simovich MJ, Miller B, Ezzeldin H, Kirkland BT, McLeod G, Fulmer C, Nathans J, Jacobson SG, Pittler SJ. 2001. Four novel mutations in the RPE65 gene in patients with Leber congenital amaurosis. Hum Mutat 18:164.
17. Stone E. 2003. Finding and interpreting genetic variations that are important to ophthalmologists. Trans Am Ophthalmol Soc 101:437-484.
18. Stone E. 2007. Leber congenital amaurosis-a model for efficient genetic testing of heterogeneous disorders: LXIV Edward Jackson Memorial Lecture. Am J Ophthalmol 144:791-811.
19. Takahashi Y, Chen Y, Moiseyev G, Ma J. 2006. Two point mutations of RPE65 from patients with retinal dystrophies decrease the stability of RPE65 protein and abolish its isomerohydrolase activity. J Biol Chem 281:21820-21826.
20. Thompson DA, Lorenz B, Gyürüs P, Gao J, Hanna DB, Andrassi M. 1999. RPE65 mutations in childhood-onset severe retinal degenerations. Invest Ophthalmol Vis Sci 40:S75.
21. Thompson D, Gyurus P, Fleischer L, Bingham E, McHenry C, Apfelstedt-Sylla E, Zrenner E, Lorenz B, Richards J, Jacobson S, Sieving PA, Gal A. 2000. Genetics and phenotypes of RPE65 mutations in inherited retinal degeneration. Invest Ophthalmol Vis Sci 41:4293-4299.
22. Wheeler DA, Srinivasan M, Egholm M, Shen Y, Chen L, McGuire A, He W, Chen YJ, Makhijani V, Roth GT, Gomes X, Tartaro K, Niazi F, Turcotte CL, Irzyk GP, Lupski JR, Chinault C, Song XZ, Liu Y, Yuan Y, Nazareth L, Qin X, Muzny DM, Margulies M, Weinstock GM, Gibbs RA, Rothberg JM. 2008. The complete genome of an individual by massively parallel DNA sequencing. Nature 452:872-876.