Update on the molecular genetics of retinitis pigmentosa

Ophthalmic Genetics

Volumn 22, Issue 3, 2001, Pages 133-154

  Wang, Qing ^a   Chen, Qiuyun ^a   Zhao, Kanxing ^a   Wang, Li ^a   Wang, Lejin ^a   Traboulsi, Elias I ^a  

^a LERNER RESEARCH INSTITUTE   (United States)

Author keywords

Genetic disease; Genetics; Mutation; Retinal degeneration; Retinal dystrophy; Retinitis pigmentosa

Indexed keywords

AUTOSOMAL DOMINANT INHERITANCE; AUTOSOMAL RECESSIVE INHERITANCE; CELL DEGENERATION; CHROMOSOME ANALYSIS; GENE IDENTIFICATION; GENE LOCUS; GENE MUTATION; HETEROZYGOTE; HUMAN; MOLECULAR CLONING; MOLECULAR GENETICS; NIGHT BLINDNESS; NONHUMAN; PATHOGENESIS; PHOTORECEPTOR CELL; PRIORITY JOURNAL; RESTRICTION MAPPING; RETINA DYSTROPHY; RETINITIS PIGMENTOSA; REVIEW; VISUAL FIELD; VISUAL IMPAIRMENT; X CHROMOSOME LINKAGE;

CHROMOSOME MAPPING; HUMANS; LINKAGE (GENETICS); MOLECULAR BIOLOGY; MUTATION; RETINITIS PIGMENTOSA; RETINOBLASTOMA PROTEIN; X CHROMOSOME;

EID: 0035573049     PISSN: 13816810     EISSN: None     Source Type: Journal    
DOI: 10.1076/opge.22.3.133.2224     Document Type: Review

References (122)

1. Beitraege sur pathologischen anatomie des Auges. 2. Pigmentbildung in der Netzhaut
2. Prevalence of retinitis pigmentosa and allied disorders in Denmark. I. Main results
3. Retinitis pigmentosa. The Friedenwald lecture
4. Exclusion of the involvement of all known retinitis pigmentosa loci in the disease present in a family of Irish origin provides evidence for a sixth autosomal dominant locus (RP8)
5. Molecular genetics of retinitis pigmentosa
6. Clinical findings and common symptoms in retinitis pigmentosa
7. Population genetic studies of retinitis pigmentosa
8. On the heredity of retinitis pigmentosa
9. Retinitis pigmentosa: Problems associated with genetic classification
10. Molecular genetics of human retinal dystrophies
11. A brief review of retinitis pigmentosa and the identified retinitis pigmentosa genes
12. Retinitis pigmentosa: Defined from a molecular point of view
13. Molecular genetics of human retinal disease
14. Autosomal dominant retinitis pigmentosa (ADRP): Localization of an ADRP gene to the long arm of chromosome 3
15. A point mutation of the rhodopsin gene in one form of retinitis pigmentosa
16. Crystal structure of rhodopsin: A G protein-coupled receptor
17. Rhodopsin mutations in inherited retinal dystrophies and dysfunctions
18. A novel mutation within the rhodopsin gene (Thr-94-Ile) causing autosomal dominant congenital stationary night blindness
19. Mutations in the gene encoding the alpha subunit of the rod cGMP-gated channel in autosomal recessive retinitis pigmentosa
20. Novel rhodopsin mutation in a Chinese family with autosomal dominant retinitis pigmentosa
21. Evidence against a second autosomal dominant retinitis pigmentosa locus close to rhodopsin on chromosome 3q
22. Transgenic mice with a rhodopsin mutation (Pro23His): A mouse model of autosomal dominant retinitis pigmentosa
23. Retinopathy induced in mice by targeted disruption of the rhodopsin gene
24. Morphological, physiological, and biochemical changes in rhodopsin knockout mice
25. A three-base-pair deletion in the peripherin-RDS gene in one form of retinitis pigmentosa
26. Mutations in the human retinal degeneration slow gene in autosomal dominant retinitis pigmentosa
27. Identification of a photoreceptor-specific mRNA encoded by the gene responsible for retinal degeneration slow (rds)
28. Retinal degeneration slow (rds) in mouse results from simple insertion of a t haplotype-specific element into protein-coding exon II
29. Mutations and polymorphisms in the human peripherin-RDS gene and their involvement in inherited retinal degeneration
30. Mutations in a gene encoding a new oxygen-regulated photoreceptor protein cause dominant retinitis pigmentosa
31. Mutations in a novel retina-specific gene cause autosomal dominant retinitis pigmentosa
32. Mutations in RGR, encoding a light-sensitive opsin homologue, in patients with retinitis pigmentosa
33. Molecular and ultrastructural characterization of the products of the human retinopathy candidate genes ROM1 and RDS
34. Localization of the photoreceptor gene ROM1 to human chromosome11 and mouse chromosome 19: Sublocalization to human 11q13 between PGA and PYGM
35. Identification of a new mammalian photoreceptor-specific gene family
36. Disulfide-mediated oligomerization of Peripherin/Rds and Rom-1 in photoreceptor disk membranes. Implications for photoreceptor outer segment morphogenesis and degeneration
37. Digenic retinitis pigmentosa due to mutations at the unlinked peripherin/RDS and ROM1 loci
38. A heterozygous putative null mutation in ROM1 without a mutation in peripherin/RDS in a family with retinitis pigmentosa
39. Mutation analysis of the ROM1 gene in retinitis pigmentosa
40. Dominant and digenic mutations in the peripherin/RDS and ROM1 genes in retinitis pigmentosa
41. Neural retina-specific leucine zipper gene NRL (D14S46E) maps to human chromosome 14q11.1-q11.2
42. A conserved retina-specific gene encodes a basic motif/leucine zipper domain
43. A mutation in NRL is associated with autosomal dominant retinitis pigmentosa
44. NRL S50T mutation and the importance of 'founder effects' in inherited retinal dystrophies
45. Cone-rod dystrophy due to mutations in a novel photoreceptor-specific homeobox gene (CRX) essential for maintenance of the photoreceptor
46. Crx, a novel otx-like homeobox gene, shows photoreceptor-specific expression and regulates photore-ceptor differentiation
47. A range of clinical phenotypes associated with mutations in CRX, a photoreceptor transcription-factor gene
48. De novo mutations in the CRX homeobox gene associated with Leber congenital amaurosis
49. Retinopathy and attenuated circadian entrainment in Crx-deficient mice
50. The leucine zipper of NRL interacts with the CRX homeodomain. A possible mechanism of transcriptional synergy in rhodopsin regulation
51. Identification of a sixth locus for autosomal dominant retinitis pigmentosa on chromosome 19
52. Evidence for a major retinitis pigmentosa locus on 19q13.4 (RP11) and association with a unique bimodal expressivity phenotype
53. Segregation of a PRKCG mutation in two RP11 families
54. A ninth locus (RP18) for autosomal dominant retinitis pigmentosa maps in the pericentromeric region of chromosome 1
55. A new locus for autosomal dominant retinitis pigmentosa on chromosome 7p
56. Localization of an autosomal dominant retinitis pigmentosa gene to chromosome 7q
57. A new locus for autosomal dominant retinitis pigmentosa on the short arm of chromosome 17
58. An eighth locus for autosomal dominant retinitis pigmentosa is linked to chromosome 17q
59. The retinal pigment epithelium: A versatile partner in vision
60. Molecular cloning and expression of RPE65, a novel retinal pigment epithelium-specific microsomal protein that is post-transcriptionally regulated in vitro
61. Rpe65 is necessary for production of 11-cis-vitamin A in the retinal visual cycle
62. Characterization of an RPE65 knockout mouse: A model for Leber's congenital amaurosis type II
63. Protection of Rpe65-deficient mice identifies rhodopsin as a mediator of light-induced retinal degeneration
64. Mutations in RPE65 cause autosomal recessive childhood-onset severe retinal dystrophy
65. Mutations in the RPE65 gene in patients with autosomal recessive retinitis pigmentosa or Leber congenital amaurosis
66. Mutations in RPE65 cause Leber's congenital amaurosis
67. Retinitis pigmentosa caused by a homozygous mutation in the Stargardt disease gene ABCR
68. A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy
69. Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration
70. ABCR gene analysis in familial exudative age-related macular degeneration
71. Allelic variation in ABCR associated with Stargardt disease but not age-related macular degeneration
72. A novel ABCR nonsense mutation responsible for late-onset fundus flavimaculatus
73. Insights into the function of Rim protein in photoreceptors and etiology of Stargardt's disease from the phenotype in abcr knockout mice
74. Assignment of a gene for autosomal recessive retinitis pigmentosa (RP12) to chromosome 1q31-q32.1 in an inbred and genetically heterogeneous disease population
75. Mutations in a human homologue of Drosophila crumbs cause retinitis pigmentosa (RP12)
76. Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type IIa
77. Missense mutation in the ush2a gene: Association with recessive retinitis pigmentosa without hearing loss
78. Cloning and developmental expression analysis of the murine c-mer tyrosine kinase
79. Mutation of the receptor tyrosine kinase gene Mertk in the retinal dystrophic RCS rat
80. Mutations in MERTK the human orthologue of the RCS rat retinal dystrophy gene, cause retinitis pigmentosa
81. A homozygous 1-base pair deletion in the arrestin gene is a frequent cause of Oguchi disease in Japanese
82. Structural organization of the human S-antigen gene. cDNA, amino acid, intron, exon, promoter, in vitro transcription, retina, and pineal gland
83. Arrestin gene mutations in autosomal recessive retinitis pigmentosa
84. Missense rhodopsin mutation in a family with recessive RP
85. Molecular characterization of human and bovine rod photoreceptor cGMP phosphodiesterase alpha-subunit and chromosomal localization of the human gene
86. Autosomal recessive retinitis pigmentosa caused by mutations in the alpha subunit of rod cGMP phosphodiesterase
87. Recessive mutations in the gene encoding the beta-subunit of rod phosphodi-esterase in patients with retinitis pigmentosa
88. Primary structure and functional expression from complementary DNA of the rod photoreceptor cyclic GMP-gated channel
89. Identification of a locus, distinct from RDS-peripherin, for autosomal recessive retinitis pigmentosa on chromosome6p
90. TULP1 mutation in two extended Dominican kindreds with autosomal recessive retinitis pigmentosa
91. Recessive mutations in the gene encoding the tubby-like protein TULP1 in patients with retinitis pigmentosa
92. Identification of a photoreceptor cell-specific nuclear receptor
93. Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate
94. The photoreceptor cell-specific nuclear receptor gene (PNR) accounts for retinitis pigmentosa in the Crypto-Jews from Portugal (Marranos), survivors from the Spanish Inquisition
95. Mutation of the gene encoding cellular retinaldehyde-binding protein in autosomal recessive retinitis pigmentosa
96. Autosomal recessive retinitis pigmentosa locus RP28 maps between D2S1337 and D2S286 on chromosome 2p11-p15 in an Indian family
97. A new autosomal recessive retinitis pigmentosa locus maps on chromosome 2q31-q33
98. A new locus for autosomal recessive retinitis pigmentosa mapping to chromosome 4q32-34
99. A major locus for autosomal recessive retinitis pigmentosa on 6q, determined by homozygosity mapping of chromosomal regions that contain gamma-aminobutyric acid-receptor clusters
100. Genetic linkage studies in autosomal recessive retinitis pigmentosa
101. The retinitis pigmentosa GTPase regulator (RPGR) interacts with novel transport-like proteins in the outer segments of rod photoreceptors
102. Homozygosity mapping of autosomal recessive retinitis pigmentosa locus (RP22) on chromosome 16p12.1-p12.3
103. Retinitis pigmentosa. Genetic percentages
104. A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange factor is mutated in X-linked retinitis pigmentosa (RP3)
105. Positional cloning of the gene for X-linked retinitis pigmentosa 2
106. Evidence for a new locus for X-linked retinitis pigmentosa (RP23)
107. Localizing multiple X chromosome-linked retinitis pigmentosa loci using multilocus homogeneity tests
108. A novel locus (RP24) for X-linked retinitis pigmentosa maps to Xq26-27
109. Positional cloning of the gene for X-linked retinitis pigmentosa 3: Homology with the guanine-nucleotide-exchange factor RCC1
110. Biochemical characterization and subcellular localization of the mouse retinitis pigmentosa GTPase regulator (mRpgr)
111. The retinitis pigmentosa GTPase regulator, RPGR, interacts with the delta subunit of rod cyclic GMP phosphodiesterase
112. A soluble form of bovine rod photoreceptor phosphodiesterase has a novel 15-kDa subunit
113. The delta subunit of rod specific cyclic GMP phosphodiesterase, PDE delta, interacts with the Arf-like protein Arl3 in a GTP specific manner
114. Identification of a novel protein interacting with RPGR
115. A retinitis pigmentosa GTPase regulator (RPGR)-deficient mouse model for X-linked retinitis pigmentosa (RP3)
116. X-linked dominant cone-rod degeneration: Linkage mapping of a new locus for retinitis pigmentosa (RP15) to Xp22.13-p22.11
117. Remapping of the RP15 locus for X-linked cone-rod degeneration to Xp11.4-p21.1, and identification of a de novo insertion in the RPGR exon ORF15
118. Mutations in the N-terminus of the X-linked retinitis pigmentosa protein RP2 interfere with the normal targeting of the protein to the plasma membrane
119. X-linked retinitis pigmentosa: Mutation spectrum of the RPGR and RP2 genes and correlation with visual function
120. Mutational hot spot within a new RPGR exon in X-linked retinitis pigmentosa
121. A randomized trial of vitamin A and vitamin E supplementation for retinitis pigmentosa
122. Supplemental vitamin A retards loss of ERG amplitude in retinitis pigmentosa