The severity of retinal degeneration in Rp1h gene-targeted mice is dependent on genetic background

Investigative Ophthalmology and Visual Science

Volumn 50, Issue 4, 2009, Pages 1566-1574

  Liu, Qin ^a   Saveliev, Alexei ^a   Pierce, Eric A ^a  

^a UNIVERSITY OF PENNSYLVANIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

REGULATOR PROTEIN; RETINITIS PIGMENTOSA 1 HOMOLOG PROTEIN; UNCLASSIFIED DRUG; MICROTUBULE ASSOCIATED PROTEIN; RP1 PROTEIN, MOUSE;

ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; CELL ULTRASTRUCTURE; CONGENIC STRAIN; CONTROLLED STUDY; DISEASE SEVERITY; ELECTRORETINOGRAPHY; GENETIC VARIABILITY; IMMUNOFLUORESCENCE MICROSCOPY; MOUSE; NONHUMAN; NUCLEOTIDE SEQUENCE; PHENOTYPIC VARIATION; PHOTORECEPTOR CELL; PHOTORECEPTOR OUTER SEGMENT; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN LOCALIZATION; RETINA DEGENERATION; A J MOUSE; ANIMAL; C57BL MOUSE; CROSS BREEDING; DBA MOUSE; FLUORESCENCE MICROSCOPY; GENE TARGETING; GENETIC PREDISPOSITION; GENETICS; IMAGE PROCESSING; PATHOLOGY; PATHOPHYSIOLOGY; PHENOTYPE;

ANIMALS; CROSSES, GENETIC; ELECTRORETINOGRAPHY; GENE TARGETING; GENETIC PREDISPOSITION TO DISEASE; IMAGE PROCESSING, COMPUTER-ASSISTED; MICE; MICE, CONGENIC; MICE, INBRED A; MICE, INBRED C57BL; MICE, INBRED DBA; MICROSCOPY, FLUORESCENCE; MICROTUBULE-ASSOCIATED PROTEINS; PHENOTYPE; PHOTORECEPTOR CELLS, VERTEBRATE; RETINAL DEGENERATION;

EID: 64049089236     PISSN: 01460404     EISSN: 15525783     Source Type: Journal    
DOI: 10.1167/iovs.08-2776     Document Type: Article

References (56)

1. Pierce EA. Pathways to photoreceptor cell death in inherited retinal degenerations. Bioessays. 2001;23:605-618.
2. Bessant DA, Ali RR, Bhattacharya SS. Molecular genetics and prospects for therapy of the inherited retinal dystrophies. Curr Opin Genet Dev. 2001;11:307-316.
3. Hartong DT, Berson EL, Dryja TP. Retinitis pigmentosa. Lancet. 2006;368:1795-1809.
4. Retinal Information Network. http://www.sph.uth.tmc.edu/Ret-net/. Accessed December 18, 2008.
5. Nadeau JH. Modifier genes in mice and humans. Nat Rev Genet. 2001;2:165-174.
6. Haider NB, Ikeda A, Naggert JK, Nishina PM. Genetic modifiers of vision and hearing. Hum Mol Genet. 2002;11:1195-1206.
7. Paunescu K, Preising MN, Janke B, Wissinger B, Lorenz B. Genotype-phenotype correlation in a German family with a novel complex CRX mutation extending the open reading frame. Ophthalmology. 2007;114:1348-1357.
8. Passerini I, Sodi A, Giambene B, Menchini U, Torricelli F. Phenotypic intrafamilial variability associated with S212G mutation in the RDS/peripherin gene. Eur J Ophthalmol. 2007;17:1000-1003.
9. Berson EL, Rosner B, Sandberg MA, Weigel-DiFranco C, Dryja TP. Ocular findings in patients with autosomal dominant retinitis pigmentosa and rhodopsin, proline-347-leucine. Am J Ophthalmol. 1991;111:614-623.
10. Berson EL, Rosner B, Sandberg MA, Dryja TP. Ocular findings in patients with autosomal dominant retinitis pigmentosa and a rhodopsin gene defect (Pro-23-His). Arch Ophthalmol. 1991;109:92-101.
11. To K, Adamian M, Dryja TP, Berson EL. Histopathologic study of variation in severity of retinitis pigmentosa due to the dominant rhodopsin mutation Pro23His. Am J Ophthalmol. 2002;134:290-293.
12. Ayuso C, Trujillo MJ, Robledo M, et al. Novel rhodopsin mutation in an autosomal dominant retinitis pigmentosa family: phenotypic variation in both heterozygote and homozygote Val137Met mutant patients. Hum Genet. 1996;98:51-54.
13. Chang W, Ding Q, Tang Z, et al. A novel de novo frameshift mutation of RPGR ORF15 is associated with X-linked retinitis pigmentosa in a Chinese family. Mol Vis. 2007;13:1548-1554.
14. Pierce EA, Quinn T, Meehan T, McGee TL, Berson EL, Dryja TP. Mutations in a gene encoding a new oxygen-regulated photoreceptor protein cause dominant retinitis pigmentosa. Nat Genet. 1999;22:248-254.
15. Sullivan LS, Heckenlively JR, Bowne SJ, et al. Mutations in a novel retina-specific gene cause autosomal dominant retinitis pigmentosa. Nat Genet. 1999;22:255-259.
16. Guillonneau X, Piriev NI, Danciger M, et al. A nonsense mutation in a novel gene is associated with retinitis pigmentosa in a family linked to the RP1 locus. Hum Mol Genet. 1999;8:1541-1546.
17. Payne A, Vithana E, Khaliq S, et al. RP1 protein truncating mutations predominate at the RP1 adRP locus. Invest Ophthalmol Vis Sci. 2000;41:4069-4073.
18. Berson EL, Grimsby JL, Adams SM, et al. Clinical features and mutations in patients with dominant retinitis pigmentosa-1 (RP1). Invest Ophthalmol Vis Sci. 2001;42:2217-2224.
19. Schwartz SB, Aleman TS, Cideciyan AV, Swaroop A, Jacobson SG, Stone EM. De novo mutation in the RP1 gene (Arg677ter) associated with retinitis pigmentosa. Invest Ophthalmol Vis Sci. 2003; 44:3593-3597.
20. Riazuddin SA, Zulfiqar F, Zhang Q, et al. Autosomal recessive retinitis pigmentosa is associated with mutations in RP1 in three consanguineous Pakistani families. Invest Ophthalmol Vis Sci. 2005;46:2264-2270.
21. Khaliq S, Abid A, Ismail M, et al. Novel association of RP1 gene mutations with autosomal recessive retinitis pigmentosa. J Med Genet. 2005;42:436-438.
22. Jacobson SG, Cideciyan AV, Iannaccone A, et al. Disease expression of RP1 mutations causing autosomal dominant retinitis pigmentosa. Invest Ophthalmol Vis Sci. 2000;41:1898-1908.
23. Ansley SJ, Badano JL, Blacque OE, et al. Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome. Nature. 2003; 425:628-633.
24. Badano JL, Teslovich TM, Katsanis N. The centrosome in human genetic disease. Nat Rev Genet. 2005;6:194-205.
25. Katsanis N, Ansley SJ, Badano JL, et al. Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder. Science. 2001;293:2256-2259.
26. Badano JL, Kim JC, Hoskins BE, et al. Heterozygous mutations in BBS1, BBS2 and BBS6 have a potential epistatic effect on Bardet-Biedl patients with two mutations at a second BBS locus. Hum Mol Genet. 2003;12:1651-1659.
27. Beales PL, Badano JL, Ross AJ, et al. Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome. Am J Hum Genet. 2003;72:1187-1199.
28. Badano JL, Leitch CC, Ansley SJ, et al. Dissection of epistasis in oligogenic Bardet-Biedl syndrome. Nature. 2006;439:326-330.
29. Kajiwara K, Berson EL, Dryja TP. Digenic retinitis pigmentosa due to mutations at the unlinked peripherin/RDS and ROM1 loci. Science. 1994;264:1604-1608.
30. Danciger M, Ogando D, Yang H, et al. Genetic modifiers of retinal degeneration in the rd3 mouse. Invest Ophthalmol Vis Sci. 2008; 49:2863-2869.
31. Danciger M, Yang H, Ralston R, et al. Quantitative genetics of age-related retinal degeneration: a second F1 intercross between the A/J and C57BL/6 strains. Mol Vis. 2007;13:79-85.
32. Haider NB, Zhang W, Hurd R, et al. Mapping of genetic modifiers of Nr2e3 rd7/rd7 that suppress retinal degeneration and restore blue cone cells to normal quantity. Mamm Genome. 2008;19:145-154.
33. Johnson BA, Aoyama N, Friedell NH, Ikeda S, Ikeda A. Genetic modification of the schisis phenotype in a mouse model of X-linked retinoschisis. Genetics. 2008;178:1785-1794.
34. Liu Q, Lyubarsky A, Skalet JH, Pugh EN Jr, Pierce EA. RP1 is required for the correct stacking of outer segment discs. Invest Ophthalmol Vis Sci. 2003;44:4171-4183.
35. Lyubarsky AL, Savchenko AB, Morocco SB, Daniele LL, Redmond TM, Pugh EN Jr. Mole quantity of RPE65 and its productivity in the generation of 11-cis-retinal from retinyl esters in the living mouse eye. Biochemistry. 2005;44:9880-9888.
36. Liu Q, Zuo J, Pierce EA. The retinitis pigmentosa 1 protein is a photoreceptor microtubule-associated protein. J Neurosci. 2004; 24:6427-6436.
37. LaVail MM, Gorrin GM, Repaci MA, Thomas LA, Ginsberg HM. Genetic regulation of light damage to photoreceptors. Invest Ophthalmol Vis Sci. 1987;28:1043-1048.
38. Lyubarsky AL, Falsini B, Pennesi ME, Valentini P, Pugh EN. UV-and midwave-sensitive cone-driven retinal responses of the mouse: a possible phenotype for coexpression of cone photopigments. J Neurosci. 1999;19:442-455.
39. Mutant mice and neuroscience: recommendations concerning genetic background: Banbury Conference on genetic background in mice. Neuron. 1997;19:755-759.
40. Liu Q, Zhou J, Daiger SP, et al. Identification and subcellular localization of the RP1 protein in human and mouse photoreceptors. Invest Ophthalmol Vis Sci. 2002;43:22-32.
41. Danciger M, Matthes MT, Yasamura D, et al. A QTL on distal chromosome 3 that influences the severity of light-induced dam-age to mouse photoreceptors. Mamm Genome. 2000;11:422-427.
42. Wenzel A, Reme CE, Williams TP, Hafezi F, Grimm C. The Rpe65 Leu450Met variation increases retinal resistance against light-induced degeneration by slowing rhodopsin regeneration. J Neuro-sci. 2001;21:53-58.
43. Samardzija M, Wenzel A, Naash M, Reme CE, Grimm C. Rpe65 as a modifier gene for inherited retinal degeneration. Eur J Neurosci. 2006;23:1028-1034.
44. Fain PR, McFann KK, Taylor MR, et al. Modifier genes play a significant role in the phenotypic expression of PKD1. Kidney Int. 2005;67:1256-1267.
45. Goodarzi MO, Lehman DM, Taylor KD, et al. SORCS1: a novel human type 2 diabetes susceptibility gene suggested by the mouse. Diabetes. 2007;56:1922-1929.
46. LaVail MM, Battelle BA. Influence of eye pigmentation and light deprivation on inherited retinal dystrophy in the rat. Exp Eye Res. 1975;21:167-192.
47. Beermann F, Orlow SJ, Lamoreux ML. The Tyr (albino) locus of the laboratory mouse. Mamm Genome. 2004;15:749-758.
48. Ray K, Chaki M, Sengupta M. Tyrosinase and ocular diseases: some novel thoughts on the molecular basis of oculocutaneous albinism type 1. Prog Retin Eye Res. 2007;26:323-358.
49. Donatien P, Jeffery G. Correlation between rod photoreceptor numbers and levels of ocular pigmentation. Invest Ophthalmol Vis Sci. 2002;43:1198-1203.
50. Wu J, Seregard S, Algvere PV. Photochemical damage of the retina. Surv Ophthalmol. 2006;51:461-481.
51. Frazer KA, Eskin E, Kang HM, et al. A sequence-based variation map of 8.27 million SNPs in inbred mouse strains. Nature. 2007; 448:1050-1053.
52. Nakayama J, Fu YH, Clark AM, et al. A nonsense mutation of the MASS1 gene in a family with febrile and afebrile seizures. Ann Neurol. 2002;52:654-657.
53. Weston MD, Luijendijk MW, Humphrey KD, Moller C, Kimberling WJ. Mutations in the VLGR1 gene implicate G-protein signaling in the pathogenesis of Usher syndrome type II. Am J Hum Genet. 2004;74:357-366.
54. Zhang J, Sun X, Qian Y, Maquat LE. Intron function in the non-sense-mediated decay of beta-globin mRNA: indications that pre-mRNA splicing in the nucleus can influence mRNA translation in the cytoplasm. RNA. 1998;4:801-815.
55. van Wijk E, van der Zwaag B, Peters T, et al. The DFNB31 gene product whirlin connects to the Usher protein network in the cochlea and retina by direct association with USH2A and VLGR1. Hum Mol Genet. 2006;15:761-765.
56. Liu Q, Tan G, Levenkova N, et al. The proteome of the mouse photoreceptor sensory cilium complex. Mol Cell Proteomics. 2007;6:1299-1317.