A novel mutation in Prph2, a gene regulated by Nr2e3, causes retinal degeneration and outer-segment defects similar to Nr2e3 rd7/rd7 retinas

Mammalian Genome

Volumn 19, Issue 9, 2008, Pages 623-633

  Nystuen, Arne M ^a   Sachs, Andrew J ^a   Yuan, Yang ^a   Heuermann, Laura ^a   Haider, Neena B ^a,b  

^a UNIVERSITY OF NEBRASKA MEDICAL CENTER   (United States)

^b UNIVERSITY OF NEBRASKA AT OMAHA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; PERIPHERIN;

ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; CHROMATIN IMMUNOPRECIPITATION; CHROMOSOME 17; CHROMOSOME MAP; CLINICAL EXAMINATION; COMPARATIVE STUDY; CONTROLLED STUDY; DISEASE COURSE; EXON; GENE; GENE MUTATION; GENE TARGETING; HISTOPATHOLOGY; HOMOZYGOSITY; MOLECULAR CLONING; MOUSE; MUTANT; NMF193 GENE; NONHUMAN; NR2E3 GENE; PHENOTYPE; PHOTORECEPTOR CELL; PRPH2 GENE; RETINA DEGENERATION; RETINA ROD OUTER SEGMENT; RNA SPLICING;

AMINO ACID SEQUENCE; ANIMALS; BASE SEQUENCE; CHROMOSOME MAPPING; DNA PRIMERS; ETHYLNITROSOUREA; FEMALE; HETEROZYGOTE; HOMOZYGOTE; INTERMEDIATE FILAMENT PROTEINS; MALE; MEMBRANE GLYCOPROTEINS; MICE; MICE, INBRED C57BL; MICE, MUTANT STRAINS; MOLECULAR SEQUENCE DATA; MUTATION; NERVE TISSUE PROTEINS; RECEPTORS, CYTOPLASMIC AND NUCLEAR; RETINAL DEGENERATION; RNA, MESSENGER; ROD CELL OUTER SEGMENT;

MUS;

EID: 63949086607     PISSN: 09388990     EISSN: 14321777     Source Type: Journal    
DOI: 10.1007/s00335-008-9138-5     Document Type: Article

References (48)

1. NB Akhmedov NI Piriev B Chang AL Rapoport NL Hawes 2000 A deletion in a photoreceptor-specific nuclear receptor mRNA causes retinal degeneration in the rd7 mouse Proc Natl Acad Sci USA 97 5551 5556
2. PN Baird RH Guymer D Chiu AL Vincent WS Alexander 2002 Generating mouse models of retinal disease using ENU mutagenesis Vision Res 42 479 485
3. I Barbaric S Wells A Russ TN Dear 2007 Spectrum of ENU-induced mutations in phenotype-driven and gene-driven screens in the mouse Environ Mol Mutagen 48 124 142
4. K Boesze-Battaglia OP Lamba AA Napoli Jr S Sinha Y Guo 1998 Fusion between retinal rod outer segment membranes and model membranes: a role for photoreceptor peripherin/rds Biochemistry 37 9477 9487
5. K Boesze-Battaglia FP Stefano M Fenner AA Napoli Jr 2000 A peptide analogue to a fusion domain within photoreceptor peripherin/rds promotes membrane adhesion and depolarization Biochim Biophys Acta 1463 343 354
6. GQ Chang Y Hao F Wong 1993 Apoptosis: final common pathway of photoreceptor death in rd, rds, and rhodopsin mutant mice Neuron 11 595 605
7. J Chen A Rattner J Nathans 2005 The rod photoreceptor-specific nuclear receptor Nr2e3 suppresses transcription of multiple cone-specific genes J Neurosci 25 118 129
8. T Cheng NS Peachey S Li Y Goto Y Cao 1997 The effect of peripherin/rds haploinsufficiency on rod and cone photoreceptors J Neurosci 17 8118 8128
9. H Cheng H Khanna EC Oh D Hicks KP Mitton 2004 Photoreceptor-specific nuclear receptor NR2E3 functions as a transcriptional activator in rod photoreceptors Hum Mol Genet 13 1563 1575
10. AT Clark D Goldowitz JS Takahashi MH Vitaterna SM Siepka 2004 Implementing large-scale ENU mutagenesis screens in North America Genetica 122 51 64
11. G Connell R Bascom L Molday D Reid RR McInnes 1991 Photoreceptor peripherin is the normal product of the gene responsible for retinal degeneration in the rds mouse Proc Natl Acad Sci U S A 88 723 726
12. F Coppieters BP Leroy D Beysen J Hellemans K De Bosscher 2007 Recurrent mutation in the first zinc finger of the orphan nuclear receptor NR2E3 causes autosomal dominant retinitis pigmentosa Am J Hum Genet 81 147 57
13. JC Corbo CL Cepko 2005 A hybrid photoreceptor expressing both rod and cone genes in a mouse model of enhanced S-cone syndrome PLoS Genet 5 140 153
14. XQ Ding M Nour LM Ritter AF Goldberg SJ Fliesler 2004 The R172 W mutation in peripherin/rds causes a cone-rod dystrophy in transgenic mice Hum Mol Genet 13 2075 2087
15. XQ Ding HM Stricker MI Naash 2005 Role of the second intradiscal loop of peripherin/rds in homo and hetero associations Biochemistry 44 4897 4904
16. R Farjo JS Skaggs BA Nagel AB Quiambao ZA Nash 2006 Retention of function without normal disc morphogenesis occurs in cone but not rod photoreceptors J Cell Biol 173 59 68
17. R Farjo SJ Fliesler MI Naash 2007 Effect of Rds abundance on cone outer segment morphogenesis, photoreceptor gene expression, and outer limiting membrane integrity J Comp Neurol 504 619 630
18. GJ Farrar P Kenna SA Jordan R Kumar-Singh MM Humphries 1991 A three-base-pair deletion in the peripherin-RDS gene in one form of retinitis pigmentosa Nature 354 478 480
19. U Felbor H Schilling BH Weber 1997 Adult vitelliform macular dystrophy is frequently associated with mutations in the peripherin/RDS gene Hum Mutat 10 301 309
20. NB Haider SG Jacobson AV Cideciyan R Swiderski LM Streb 2000 Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate Nat Genet 24 127 131
21. NB Haider JK Naggert PM Nishina 2001 Excess cone cell proliferation due to lack of a functional NR2E3 causes retinal dysplasia and degeneration in rd7/rd7 mice Hum Mol Genet 10 1619 1626
22. NB Haider P Demarco AM Nystuen X Huang RS Smith 2006 The transcription factor Nr2e3 functions in retinal progenitors to suppress cone cell generation Vis Neurosci 23 917 929
23. NL Hawes RS Smith B Chang M Davisson JR Heckenlively 1999 Mouse fundus photography and angiography: a catalogue of normal and mutant phenotypes Mol Vis 5 22
24. MM Jablonski X Wang L Lu DR Miller EM Rinchik 2005 The Tennessee Mouse Genome Consortium: identification of ocular mutants Vis Neurosci 22 595 604
25. MJ Justice JK Noveroske JS Weber B Zheng A Bradley 1999 Mouse ENU mutagenesis Hum Mol Genet 8 1955 1963
26. W Kedzierski M Lloyd DG Birch D Bok GH Travis 1997 Generation and analysis of transgenic mice expressing P216L-substituted rds/peripherin in rod photoreceptors Invest Ophthalmol Vis Sci 38 498 509
27. TJ Keen CF Inglehearn 1996 Mutations and polymorphisms in the human peripherin-RDS gene and their involvement in inherited retinal degeneration Hum Mutat 8 297 303
28. AE Kiernan A Erven S Voegeling J Peters P Nolan 2002 ENU mutagenesis reveals a highly mutable locus on mouse Chromosome 4 that affects ear morphogenesis Mamm Genome 13 142 148
29. RY Kim H Dollfus TJ Keen FW Fitzke GB Arden 1995 Autosomal dominant pattern dystrophy of the retina associated with a 4-base pair insertion at codon 140 in the peripherin/RDS gene Arch Ophthalmol 113 451 455
30. S Kohl I Giddings D Besch E Apfelstedt-Sylla E Zrenner 1998 The role of the peripherin/RDS gene in retinal dystrophies Acta Anat (Basel) 162 75 84
31. BL Lam JL Goldberg KL Hartley EM Stone M Liu 2007 Atypical mild enhanced S-cone syndrome with novel compound heterozygosity of the NR2E3 gene Am J Ophthalmol 144 157 159
32. CJ Loewen OL Moritz RS Molday 2001 Molecular characterization of peripherin-2 and rom-1 mutants responsible for digenic retinitis pigmentosa J Biol Chem 276 22388 22396
33. CJ Loewen OL Moritz BM Tam DS Papermaster RS Molday 2003 The role of subunit assembly in peripherin-2 targeting to rod photoreceptor disk membranes and retinitis pigmentosa Mol Biol Cell 14 3400 3413
34. J Ma JC Norton AC Allen JB Burns KW Hasel 1995 Retinal degeneration slow (rds) in mouse results from simple insertion of a t haplotype-specific element into protein-coding exon II Genomics 28 212 219
35. N McNally PF Kenna D Rancourt T Ahmed A Stitt 2002 Murine model of autosomal dominant retinitis pigmentosa generated by targeted deletion at codon 307 of the rds-peripherin gene Hum Mol Genet 11 1005 1016
36. BE Nichols VC Sheffield K Vandenburgh AV Drack AE Kimura 1993 Butterfly-shaped pigment dystrophy of the fovea caused by a point mutation in codon 167 of the RDS gene Nat Genet 3 202 207
37. AM Nystuen JK Schwendinger AJ Sachs AW Yang NB Haider 2007 A null mutation in VAMP1/synaptobrevin is associated with neurological defects and prewean mortality in the lethal-wasting mouse mutant Neurogenetics 8 1 10
38. HP Peng O Ahmad F Ahmad J Liu S Chen 2005 The photoreceptor-specific nuclear receptor Nr2e3 interacts with Crx and exerts opposing effects on the transcription of rod versus cone genes Hum Mol Genet 14 747 764
39. LH Pinto MH Vitaterna SM Siepka K Shimomura S Lumayag 2004 Results from screening over 9000 mutation-bearing mice for defects in the electroretinogram and appearance of the fundus Vision Res 44 3335 3345
40. LH Pinto MH Vitaterna K Shimomura SM Siepka EL McDearmon 2005 Generation, characterization, and molecular cloning of the Noerg-1 mutation of rhodopsin in the mouse Vis Neurosci 22 619 629
41. LM Ritter K Boesze-Battaglia BM Tam OL Moritz N Khattree 2004 Uncoupling of photoreceptor peripherin/rds fusogenic activity from biosynthesis, subunit assembly, and targeting: a potential mechanism for pathogenic effects J Biol Chem 279 39958 39967
42. AJ Sachs JK Schwendinger AW Yang NB Haider AM Nystuen 2007 The mouse mutants recoil wobbler and nmf373 represent a series of Grm1 mutations Mamm Genome 18 749 756
43. HM Stricker XQ Ding A Quiambao SJ Fliesler MI Naash 2005 The Cys214 → Ser mutation in peripherin/rds causes a loss-of-function phenotype in transgenic mice Biochem J 388 605 613
44. GH Travis MB Brennan PE Danielson CA Kozak JG Sutcliffe 1989 Identification of a photoreceptor-specific mRNA encoded by the gene responsible for retinal degeneration slow (rds) Nature 338 70 73
45. GH Travis JG Sutcliffe D Bok 1991 The retinal degeneration slow (rds) gene product is a photoreceptor disc membrane-associated glycoprotein Neuron 6 61 70
46. RG Weleber RE Carr WH Murphey VC Sheffield EM Stone 1993 Phenotypic variation including retinitis pigmentosa, pattern dystrophy, and fundus flavimaculatus in a single family with a deletion of codon 153 or 154 of the peripherin/RDS gene Arch Ophthalmol 111 11 1531 1542
47. J Wells J Wroblewski J Keen C Inglehearn C Jubb 1993 Mutations in the human retinal degeneration slow (RDS) gene can cause either retinitis pigmentosa or macular dystrophy Nat Genet 3 213 218
48. JD Wrigley T Ahmed CL Nevett JB Findlay 2000 Peripherin/rds influences membrane vesicle morphology. Implications for retinopathies J Biol Chem 275 13191 13194