Electrophysiologic and phenotypic features of an autosomal cone-rod dystrophy caused by a novel CRX mutation

Ophthalmology

Volumn 109, Issue 10, 2002, Pages 1862-1870

  Lines, Matthew A ^a   Hébert, Marc ^a   McTaggart, Kerry E ^a   Flynn, Sarah J ^a   Tennant, Matthew T ^a   MacDonald, Ian M ^a,b  

^a UNIVERSITY OF ALBERTA   (Canada)

^b UNIVERSITY OF ALBERTA   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

MICROSATELLITE DNA; RHODOPSIN;

ADULT; AGED; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CANADA; CLINICAL ARTICLE; COLOR VISION; CONTROLLED STUDY; CRX GENE; DISEASE CLASSIFICATION; ELECTROPHYSIOLOGY; ELECTRORETINOGRAM; EXON; EYE FUNDUS; FEMALE; FRAMESHIFT MUTATION; GENE; GENE LOCUS; GENE MUTATION; GENE SEQUENCE; HAPLOTYPE; HOMEOBOX; HUMAN; MALE; MOLECULAR GENETICS; NEUROTRANSMISSION; PHENOTYPE; PHOTORECEPTOR; PHOTOTRANSDUCTION; PRIORITY JOURNAL; RETINA CONE; RETINA DYSTROPHY; RETINA MACULA DEGENERATION; RETINA NERVE CELL; RETINA ROD; RETINITIS PIGMENTOSA; VISUAL ACUITY;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; AMINO ACID SEQUENCE; CHROMOSOME MAPPING; COLOR PERCEPTION; CONES (RETINA); ELECTRORETINOGRAPHY; FEMALE; FRAMESHIFT MUTATION; FUNDUS OCULI; GENES, DOMINANT; HAPLOTYPES; HOMEODOMAIN PROTEINS; HUMANS; LINKAGE (GENETICS); MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; PEDIGREE; PHENOTYPE; RETINITIS PIGMENTOSA; RHODOPSIN; RODS (RETINA); TRANS-ACTIVATORS; VISUAL ACUITY;

EID: 0036789729     PISSN: 01616420     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0161-6420(02)01187-9     Document Type: Article

References (49)

1. Pearce WG. Hereditary macular dystrophy. A clinical and genetic study of two specific forms. Can J Ophthalmol 1975; 10:319-25.
2. Nathans J, Hogness DS. Isolation and nucleotide sequence of the gene encoding human rhodopsin. Proc Natl Acad Sci U S A 1984;81:4851-5.
3. Dryja TP, McGee TL, Hahn LB, et al. Mutations within the rhodopsin gene in patients with autosomal dominant retinitis pigmentosa. N Engl J Med 1990;323:1302-7.
4. Dryja TP, McGee TL, Reichel E, et al. A point mutation of the rhodopsin gene in one form of retinitis pigmentosa. Nature 1990;343:364-6.
5. Farrar GJ, McWilliam P, Bradley DG, et al. Autosomal dominant retinitis pigmentosa: linkage to rhodopsin and evidence for genetic heterogeneity. Genomics 1990;8:35-40.
6. Sohocki MM, Sullivan LS, Mintz-Hittner HA, et al. A range of clinical phenotypes associated with mutations in CRX, a photoreceptor transcription-factor gene. Am J Hum Genet 1998;63:1307-15.
7. Swain PK, Chen S, Wang QL, et al. Mutations in the cone-rod homeobox gene are associated with the cone-rod dystrophy photoreceptor degeneration. Neuron 1997;19:1329-36.
8. Freund CL, Gregory-Evans CY, Furukawa T, et al. Cone-rod dystrophy due to mutations in a novel photoreceptor-specific homeobox gene (CRX) essential for maintenance of the photoreceptor. Cell 1997;91:543-53.
9. Freund CL, Wang QL, Chen S, et al. De novo mutations in the CRX homeobox gene associated with Leber congenital amaurosis [letter]. Nat Genet 1998;18:311-2.
10. Swaroop A, Wang QL, Wu W, et al. Leber congenital amaurosis caused by a homozygous mutation (R90W) in the homeodomain of the retinal transcription factor CRX: direct evidence for the involvement of CRX in the development of photoreceptor function. Hum Mol Genet 1999;8:299-305.
11. Jacobson SG, Cideciyan AV, Huang Y, et al. Retinal degenerations with truncation mutations in the cone-rod homeobox (CRX) gene. Invest Ophthalmol Vis Sci 1998;39:2417-26.
12. Silva E, Yang JM, Li Y, et al. A CRX null mutation is associated with both Leber congenital amaurosis and a normal ocular phenotype. Invest Ophthalmol Vis Sci 2000;44: 2076-9.
13. Lotery AJ, Namperumalsamy P, Jacobson SG, et al. Mutation analysis of 3 genes in patients with Leber congenital amaurosis. Arch Ophthalmol 2000;118:538-43.
14. Chen S, Wang QL, Nie Z, et al. Crx, a novel Otx-like paired-homeodomain protein, binds to and transactivates photoreceptor cell-specific genes. Neuron 1997; 19:1017-30.
15. Furukawa T, Morrow EM, Cepko CL. Crx, a novel otx-like homeobox gene, shows photoreceptor-specific expression and regulates photoreceptor differentiation. Cell 1997;91:531-41.
16. Li X, Chen S, Wang Q. A pineal regulatory element (PIRE) mediates transactivation by the pineal/retina-specific transcription factor CRX. Proc Natl Acad Sci U S A 1998;95: 1876-81.
17. Furukawa T, Morrow EM, Li T, et al. Retinopathy and attenuated circadian entrainment in Crx-deficient mice. Nat Genet 1999;23:466-70.
18. Livesey FJ, Furukawa T, Steffen MA, et al. Microarray analysis of the transcriptional network controlled by the photoreceptor homeobox gene Crx. Curr Biol 2000;10:301-10.
19. Kajiwara K, Hahn LB, Mukai S, et al. Mutations in the human retinal degeneration slow gene in autosomal dominant retinitis pigmentosa. Nature 1991;354:480-3.
20. Wells J, Wroblewski J, Keen J, et al. Mutations in the human retinal degeneration slow (RDS) gene can cause either retinitis pigmentosa or macular dystrophy. Nat Genet 1993;3:213-8.
21. Kohl S, Christ-Adler M, Apfelstedt-Sylla E, et al. RDS/peripherin gene mutations are frequent causes of central retinal dystrophies. J Med Genet 1997;34:620-6.
22. Olsson JE, Gordon JW, Pawlyk BS, et al. Transgenic mice with a rhodopsin mutation (Pro23His): a mouse model of autosomal dominant retinitis pigmentosa. Neuron 1992;9:815-30.
23. Dryja TP, Berson EL, Rao VR, Oprian DD. Heterozygous missense mutation in the rhodopsin gene as a cause of congenital stationary night blindness. Nat Genet 1993;4:280-3.
24. Sieving PA, Richards JE, Naarendorp F, et al. Dark-light model for nightblindness from the human rhodopsin Gly-90→Asp mutation. Proc Natl Acad Sci U S A 1995;92: 880-4.
25. Ardell MD, Bedsole DL, Schoborg RV, Pittler SJ. Genomic organization of the human rod photoreceptor cGMP-gated cation channel β-subunit gene. Gene 2000;245:311-8.
26. Weissenbach J, Gyapay G, Dib C, et al. A second-generation linkage map of the human genome. Nature 1992:359:794-801.
27. Dib C, Fauré S, Fizames C, et al. A comprehensive genetic map of the human genome based on 5,264 microsatellites. Nature 1996;380:152-4.
28. Chau KY, Chen S, Zack DJ, Ono SJ. Functional domains of the cone-rod homeobox (CRX) transcription factor. J Biol Chem 2000;275:37264-70.
29. Fei Y, Hughes TE. Nuclear trafficking of photoreceptor protein Crx: the targeting sequence and pathologic implications. Invest Ophthalmol Vis Sci 2000;41:2849-56.
30. Mitton KP, Swain PK, Chen S, et al. The leucine zipper of NRL interacts with the CRX homeodomain. J Biol Chem 2000;275:29794-9.
31. Yanagi Y, Masuhiro Y, Mori M, et al. p300/CBP acts as a coactivator of the cone-rod homeobox transcription factor. Biochem Biophys Res Commun 2000;269:410-4.
32. Ogryzko VV, Schiltz RL, Russanova V, et al. The transcriptional coactivators p300 and CBP are histone acetyltransferases. Cell 1996;87:953-9.
33. Kobayashi A, Higashide T, Hamasaki D, et al. HRG5 (UNC119) mutation found in cone-rod dystrophy causes retinal degeneration in a transgenic model. Invest Ophthalmol Vis Sci 2000;41:3268-77.
34. Kubota S, Kobayashi A, Mori, N, et al. Changes in retinal synaptic proteins in the transgenic model expressing a mutant HRG4 (UNC119). Invest Ophthalmol Vis Sci 2002;43:308-13.
35. Niemeyer G. Selective rod- and cone-ERG responses in retinal degenerations. Digit J Ophthalmol 1998:4. Available from URL:http://djo.harvard.edu/meei/OA/OAhome.html.
36. Kaupp UB, Niidome T, Tanabe T, et al. Primary structure and functional expression from complementary DNA of the rod photoreceptor cyclic GMP-gated channel. Nature 1989;342: 762-6.
37. Biel M, Zong X, Distler M, et al. Another member of the cyclic nucleotide-gated channel family, expressed in testis, kidney, and heart. Proc Natl Acad Sci U S A 1994;91:3505-9.
38. Chen TY, Peng YW, Dhallan RS, et al. A new subunit of the cyclic nucleotide-gated cation channel in retinal rods. Nature 1993;362:764-7.
39. 2+-calmodulin modulation. Proc Natl Acad Sci U S A 1994;91: 11757-61.
40. Dhallan RS, Macke JP, Eddy RL, et al. Human rod photoreceptor cGMP-gated channel: amino acid sequence, gene structure, and functional expression. J Neurosci 1992;12:3248-56.
41. Pittler SJ, Lee AK, Altherr MR, et al. Primary structure and chromosomal localization of human and mouse rod photoreceptor cGMP-gated cation channel. J Biol Chem 1992;267: 6257-62.
42. Kohl S, Baumann B, Broghammer M, et al. Mutations in the CNGB3 gene encoding the β-subunit of the cone photoreceptor cGMP-gated channel are responsible for achromatopsia (ACHM3) linked to chromosome 8q21. Hum Mol Genet 2000; 9:2107-16.
43. Dryja TP, Finn JT, Peng YW, et al. Mutations in the gene encoding the a subunit of the rod cGMP-gated channel in autosomal recessive retinitis pigmentosa. Proc Natl Acad Sci U S A 1995;92:10177-81.
44. Bareil C, Hamel CP, Delague V, et al. Segregation of a mutation in CNGB1 encoding the β-subunit of the rod cGMP-gated channel in a family with autosomal recessive retinitis pigmentosa. Hum Genet 2001;108;328-34.
45. Wissinger B, Jägle H, Kohl S, et al. Human rod monochromacy: linkage analysis and mapping of a cone photoreceptor expressed candidate gene on chromosome 2q11. Genomics 1998;51:325-33.
46. Kohl S, Marx T, Giddings I, et al. Total colourblindness is caused by mutations in the gene encoding the α-subunit of the cone photoreceptor cGMP-gated cation channel [letter]. Nat Genet 1998;19:257-9.
47. Bech-Hansen NT, Naylor MJ, Maybaum TA, et al. Loss-of-function mutations in a calcium-channel α1-subunit gene in Xp11.23 cause incomplete X-linked congenital stationary night blindness. Nat Genet 1998:19:264-7.
48. Strom TM, Nyakatura G, Apfelstedt-Sylla E, et al. An L-type calcium-channel gene mutated in incomplete X-linked congenital stationary night blindness. Nat Genet 1998;19:260-3.
49. Boycott KM, Maybaum TA, Naylor, MJ, et al. A summary of 20 CACNA1F mutations identified in 36 families with incomplete X-linked congenital stationary night blindness, and characterization of splice variants. Hum Genet 2001;108;91-7.