Skip to main content
NCBI home page
Proceedings of the National Academy of Sciences of the United States of America logoLink to Proceedings of the National Academy of Sciences of the United States of America
. 1991 Aug 1;88(15):6481–6485. doi: 10.1073/pnas.88.15.6481

Rhodopsin mutations in autosomal dominant retinitis pigmentosa.

C H Sung 1, C M Davenport 1, J C Hennessey 1, I H Maumenee 1, S G Jacobson 1, J R Heckenlively 1, R Nowakowski 1, G Fishman 1, P Gouras 1, J Nathans 1
PMCID: PMC52109  PMID: 1862076

Abstract

DNA samples from 161 unrelated patients with autosomal dominant retinitis pigmentosa were screened for point mutations in the rhodopsin gene by using the polymerase chain reaction and denaturing gradient gel electrophoresis. Thirty-nine patients were found to carry 1 of 13 different point mutations at 12 amino acid positions. The presence or absence of the mutations correlated with the presence or absence of retinitis pigmentosa in 174 out of 179 individuals tested in 17 families. The mutations were absent from 118 control subjects with normal vision.

Full text

PDF
6481

Images in this article

6482Image
on p.6482
6482Image
on p.6482
6482Image
on p.6482
6482Image
on p.6482
6483Image
on p.6483
6483Image
on p.6483
6483Image
on p.6483
6483Image
on p.6483
6483Image
on p.6483
6483Image
on p.6483
6483Image
on p.6483
6483Image
on p.6483
6483Image
on p.6483
6483Image
on p.6483
6483Image
on p.6483
6483Image
on p.6483
6483Image
on p.6483
6485Image
on p.6485

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Alpern M. A note on the action spectrum of human rod vision. Vision Res. 1987;27(9):1471–1480. doi: 10.1016/0042-6989(87)90156-8. [DOI] [PubMed] [Google Scholar]
  2. Berson E. L., Rosner B., Sandberg M. A., Dryja T. P. Ocular findings in patients with autosomal dominant retinitis pigmentosa and a rhodopsin gene defect (Pro-23-His). Arch Ophthalmol. 1991 Jan;109(1):92–101. doi: 10.1001/archopht.1991.01080010094039. [DOI] [PubMed] [Google Scholar]
  3. Boughman J. A., Fishman G. A. A genetic analysis of retinitis pigmentosa. Br J Ophthalmol. 1983 Jul;67(7):449–454. doi: 10.1136/bjo.67.7.449. [DOI] [PMC free article] [PubMed] [Google Scholar]
  4. Dryja T. P., McGee T. L., Hahn L. B., Cowley G. S., Olsson J. E., Reichel E., Sandberg M. A., Berson E. L. Mutations within the rhodopsin gene in patients with autosomal dominant retinitis pigmentosa. N Engl J Med. 1990 Nov 8;323(19):1302–1307. doi: 10.1056/NEJM199011083231903. [DOI] [PubMed] [Google Scholar]
  5. Dryja T. P., McGee T. L., Reichel E., Hahn L. B., Cowley G. S., Yandell D. W., Sandberg M. A., Berson E. L. A point mutation of the rhodopsin gene in one form of retinitis pigmentosa. Nature. 1990 Jan 25;343(6256):364–366. doi: 10.1038/343364a0. [DOI] [PubMed] [Google Scholar]
  6. Fleischman J. A., O'Donnell F. E., Jr Congenital X-linked incomplete achromatopsia. Evidence for slow progression, carrier fundus findings, and possible genetic linkage with glucose-6-phosphate dehydrogenase locus. Arch Ophthalmol. 1981 Mar;99(3):468–472. doi: 10.1001/archopht.1981.03930010470016. [DOI] [PubMed] [Google Scholar]
  7. Heckenlively J. R., Rodriguez J. A., Daiger S. P. Autosomal dominant sectoral retinitis pigmentosa. Two families with transversion mutation in codon 23 of rhodopsin. Arch Ophthalmol. 1991 Jan;109(1):84–91. doi: 10.1001/archopht.1991.01080010086038. [DOI] [PubMed] [Google Scholar]
  8. Inglehearn C. F., Bashir R., Lester D. H., Jay M., Bird A. C., Bhattacharya S. S. A 3-bp deletion in the rhodopsin gene in a family with autosomal dominant retinitis pigmentosa. Am J Hum Genet. 1991 Jan;48(1):26–30. [PMC free article] [PubMed] [Google Scholar]
  9. McWilliam P., Farrar G. J., Kenna P., Bradley D. G., Humphries M. M., Sharp E. M., McConnell D. J., Lawler M., Sheils D., Ryan C. Autosomal dominant retinitis pigmentosa (ADRP): localization of an ADRP gene to the long arm of chromosome 3. Genomics. 1989 Oct;5(3):619–622. doi: 10.1016/0888-7543(89)90031-1. [DOI] [PubMed] [Google Scholar]
  10. Mullis K. B., Faloona F. A. Specific synthesis of DNA in vitro via a polymerase-catalyzed chain reaction. Methods Enzymol. 1987;155:335–350. doi: 10.1016/0076-6879(87)55023-6. [DOI] [PubMed] [Google Scholar]
  11. Nathans J., Davenport C. M., Maumenee I. H., Lewis R. A., Hejtmancik J. F., Litt M., Lovrien E., Weleber R., Bachynski B., Zwas F. Molecular genetics of human blue cone monochromacy. Science. 1989 Aug 25;245(4920):831–838. doi: 10.1126/science.2788922. [DOI] [PubMed] [Google Scholar]
  12. Nathans J., Hogness D. S. Isolation and nucleotide sequence of the gene encoding human rhodopsin. Proc Natl Acad Sci U S A. 1984 Aug;81(15):4851–4855. doi: 10.1073/pnas.81.15.4851. [DOI] [PMC free article] [PubMed] [Google Scholar]
  13. Nathans J., Piantanida T. P., Eddy R. L., Shows T. B., Hogness D. S. Molecular genetics of inherited variation in human color vision. Science. 1986 Apr 11;232(4747):203–210. doi: 10.1126/science.3485310. [DOI] [PubMed] [Google Scholar]
  14. Nathans J., Thomas D., Hogness D. S. Molecular genetics of human color vision: the genes encoding blue, green, and red pigments. Science. 1986 Apr 11;232(4747):193–202. doi: 10.1126/science.2937147. [DOI] [PubMed] [Google Scholar]
  15. Nathans J., Weitz C. J., Agarwal N., Nir I., Papermaster D. S. Production of bovine rhodopsin by mammalian cell lines expressing cloned cDNA: spectrophotometry and subcellular localization. Vision Res. 1989;29(8):907–914. doi: 10.1016/0042-6989(89)90105-3. [DOI] [PubMed] [Google Scholar]
  16. Oprian D. D., Molday R. S., Kaufman R. J., Khorana H. G. Expression of a synthetic bovine rhodopsin gene in monkey kidney cells. Proc Natl Acad Sci U S A. 1987 Dec;84(24):8874–8878. doi: 10.1073/pnas.84.24.8874. [DOI] [PMC free article] [PubMed] [Google Scholar]
  17. Reichel E., Bruce A. M., Sandberg M. A., Berson E. L. An electroretinographic and molecular genetic study of X-linked cone degeneration. Am J Ophthalmol. 1989 Nov 15;108(5):540–547. doi: 10.1016/0002-9394(89)90431-5. [DOI] [PubMed] [Google Scholar]
  18. Sheffield V. C., Cox D. R., Lerman L. S., Myers R. M. Attachment of a 40-base-pair G + C-rich sequence (GC-clamp) to genomic DNA fragments by the polymerase chain reaction results in improved detection of single-base changes. Proc Natl Acad Sci U S A. 1989 Jan;86(1):232–236. doi: 10.1073/pnas.86.1.232. [DOI] [PMC free article] [PubMed] [Google Scholar]

Articles from Proceedings of the National Academy of Sciences of the United States of America are provided here courtesy of National Academy of Sciences

RESOURCES