Mutations in a gene encoding a new oxygen-regulated photoreceptor protein cause dominant retinitis pigmentosa

Nature Genetics

Volumn 22, Issue 3, 1999, Pages 248-254

  Pierce, Eric A ^a   Quinn, Tracey ^a   Meehan, Terrence ^a   McGee, Terri L ^b   Berson, Eliot L ^b   Dryja, Thaddeus P ^b  

^a UNIVERSITY OF PENNSYLVANIA   (United States)

^b MASSACHUSETTS EYE AND EAR INFIRMARY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

OXYGEN;

ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CHROMOSOME 8Q; CONTROLLED STUDY; FRAMESHIFT MUTATION; GENE MUTATION; GENETIC LINKAGE; HUMAN; HUMAN CELL; MOUSE; NONHUMAN; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PHOTORECEPTOR; PRIORITY JOURNAL; RETINITIS PIGMENTOSA;

AMINO ACID SEQUENCE; ANIMALS; BASE SEQUENCE; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 8; DNA; DNA PRIMERS; EYE PROTEINS; FEMALE; GENES, DOMINANT; HUMANS; LINKAGE (GENETICS); MALE; MICE; MICE, INBRED C57BL; MOLECULAR SEQUENCE DATA; MUTATION; OXYGEN; PEDIGREE; PHENOTYPE; PHOTORECEPTORS, VERTEBRATE; RETINITIS PIGMENTOSA;

ANIMALIA;

EID: 0033031796     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/10305     Document Type: Article

References (35)

1. Berson, E.L. Retinitis pigmentosa: the Friedenwald lecture. Invest. Ophthalmol. Vis. Sci. 34, 1659-1676 (1993).
2. Dryja, T.P. Genetic heterogeneity of retinal degenerations and dysfunctions. Les Seminaires Ophtalmologiques d'ISPEN 10, 25-35 (1998).
3. Dryja, T.P. & Li, T. Molecular genetics of retinitis pigmentosa. Hum. Mol. Genet. 4, 1739-1743 (1995).
4. Berson, E.L. Retinitis pigmentosa: unfolding its mystery. Proc. Natl Acad. Sci. USA 93, 4526-4528 (1996).
5. 2): evidence of an RP locus on chromosome 1. Am. J. Hum. Genet. 29, 397-404 (1977); erratum: 29, 592 (1977).
6. Blanton, S.H. et al. Linkage mapping of autosomal dominant retinitis pigmentosa (RPI) to the pencentric region of human chromosome 8. Genomics 11, 857-869 (1991).
7. Xu, S.Y., Denton, M., Sullivan, L., Daiger, S.P. & Gal, A. Genetic mapping of RP1 on 8q11-q21 in an Australian family with autosomal dominant retinitis pigmentosa reduces the critical region to 4 cM between D8S601 and D8S285. Hum. Genet. 98, 741-743 (1996).
8. Liang, P. & Pardee, A.B. Differential display of eukaryotic messenger RNA by means of the polymerase chain reaction. Science 257, 967-971 (1992).
9. Smith, L.E.H. et al. Oxygen-induced retinopathy in the mouse. Invest. Ophthalmol. Vis. Sci. 35, 101-111 (1994).
10. Grun, G. The Development of the Vertebrate Retina: A Comparative Survey (Springer-Verlag, Berlin, 1982).
11. Dryja, T.P. Doyne lecture. Rhodopsin and autosomal dominant retinitis pigmentosa. Eye 6, 1-10 (1992).
12. Frohman, M.A. Rapid amplification of complementary DNA ends for generation of full-length complementary DNAs: thermal RACE. Methods Enzymol. 218, 340-356 (1993).
13. Bahri, S.M., Yang, X. & Chia, W. The Drosophila bifocal gene encodes a novel protein which colocalizes with actin and is necessary to photoreceptor morphogenesis. Mol. Biol. Cell 17, 5521-5529 (1997).
14. Gleeson, J.G. et al. Doublecortin, a brain-specific gene mutated in human X-linked lissencephaly and double cortex syndrome, encodes a putative signaling protein. Cell 92, 63-72 (1998).
15. Gyapay, G. et al. A radiation hybrid map of the human genome. Hum. Mol. Genet. 5, 339-346 (1996).
16. Furukawa, T., Morrow, E.M. & Cepko, C.L. Crx, a novel otx-like homeobox gene, shows photoreceptor-specific expression and regulates photoreceptor differentiation. Cell 91, 531-541 (1997).
17. Berson, E.L. et al. A randomized trial of vitamin A and vitamin E supplementation for retinitis pigmentosa. Arch. Ophthalmol. 111, 761-772 (1993).
18. Dryja, T.P. et al. A point mutation of the rhodopsin gene in one form of retinitis pigmentosa. Nature 343, 364-366 (1990).
19. Kajiwara, K. et al. Mutations in the human retinal degeneration slow gene in autosomal dominant retinitis pigmentosa. Nature 354, 480-483 (1991).
20. Farrar, G.J. et al. A three base pair deletion in the peripherin/RDS gene in one form of retinitis pigmentosa. Nature 354, 478-480 (1991).
21. Bessant, D.A. et al. A mutation in NRL is associated with autosomal dominant retinitis pigmentosa. Nature Genet. 21, 355-356 (1999).
22. Vaithinathan, R., Berson, E.L. & Dryja, T.P. Further screening of the rhodopsin gene in patients with autosomal dominant retinitis pigmentosa. Genomics 21, 461-463 (1994).
23. Dryja, T.P., Hahn, L.B., Kajiwara, K. & Berson, E.L. Dominant and digenic mutations in the peripherin/RDS and ROM1 genes in retinitis pigmentosa. Invest. Ophthalmol. Vis. Sci. 38, 1972-1982 (1997).
24. Landschulz, W.H., Johnson, P.F. & McKnight, S.L. The leucine zipper: a hypothetical structure common to a new class of DNA binding proteins. Science 240, 1759-1764 (1988).
25. Maslim, J., Valter, K., Egensperger, R., Hollander, H. & Stone, J. Tissue oxygen during a critical developmental period controls the death and survival of photoreceptors. Invest. Ophthalmol. Vis. Sci. 38, 1667-1677 (1997).
26. Liang, P., Averboukh, L. & Pardee, A.B. Distribution and cloning of eukaryotic mRNAs by means of differential display: refinements and optimization. Nucleic Acids Res. 21, 3269-3275 (1993).
27. Aiello, L.P., Robinson, G.S., Lin, Y.W., Nishio, Y. & King, G.L. Identification of multiple genes in bovine retinal pericytes altered by exposure to elevated levels of glucose by using mRNA differential display. Proc. Natl Acad. Sci. USA 6231-6235 (1996).
28. Chomczynski, P. & Sacchi, N. Single-step method of RNA isolation by acid guanidinium thiocyanate-phenol-chloroform extraction. Anal. Biochem. 162, 156-159 (1987).
29. Arcellana-Panlillo, M.Y. & Schultz, G.A. Analysis of messenger RNA. Methods Enzymol. 225, 303-328 (1993).
30. Ausubel, F.M. et al. Current Protocols in Molecular Biology (John Wiley & Sons, New York, 1994).
31. Su, M.-T., Venkatesh, T.V. & Bodmer, R. Large-and small-scale preparation of bacteriophage λ lysate and DNA. Biotechniques 25, 44-46 (1998).
32. Ioannou, P.A. et al. A new bacteriophage P1-derived vector for the propagation of large human DNA fragments. Nature Genet. 6, 84-89 (1994).
33. Morimura, H. et al. Mutations in the RPE65 gene in patients with autosomal recessive retinitis pigmentosa or leber congenital amaurosis. Proc. Natl Acad. Sci. USA 95, 3088-3093 (1998).
34. Parminder, A.H., Murakami, A., Inana, G., Berson, E.L. & Dryja, T.P. Evaluation of the human gene encoding recoverin in patients with retinitis pigmentosa or an allied disease. Invest. Ophthalmol. Vis. Sci. 38, 704-709 (1997).
35. Laborda, J. 36B4 cDNA used as an estradiol-independent mRNA control is the cDNA for human acidic ribosomal phosphoprotein PO. Nucleic Acids Res. 19, 3998 (1991).