Mutation spectrum of the rhodopsin gene among patients with autosomal dominant retinitis pigmentosa.
- 15 October 1991
- journal article
- Published by Proceedings of the National Academy of Sciences in Proceedings of the National Academy of Sciences of the United States of America
- Vol. 88 (20), 9370-9374
- https://doi.org/10.1073/pnas.88.20.9370
Abstract
We searched for point mutations in every exon of the rhodopsin gene in 150 patients from separate families with autosomal dominant retinitis pigmentosa. Including the 4 mutations we reported previously, we found a total of 17 different mutations that correlate with the disease. Each of these mutations is a single-base substitution corresponding to a single amino acid substitution. Based on current models for the structure of rhodopsin, 3 of the 17 mutant amino acids are normally located on the cytoplasmic side of the protein, 6 in transmembrane domains, and 8 on the intradiscal side. Forty-three of the 150 patients (29%) carry 1 of these mutations, and no patient has more than 1 mutation. In every family with a mutation so far analyzed, the mutation cosegregates with the disease. We found one instance of a mutation in an affected patient that was absent in both unaffected parents (i.e., a new germ-line mutation), indicating that some "isolate" cases of retinitis pigmentosa carry a mutation of the rhodopsin gene.Keywords
This publication has 16 references indexed in Scilit:
- Ocular Findings in Patients with Autosomal Dominant Retinitis Pigmentosa and Rhodopsin, Proline-347-LeucineAmerican Journal of Ophthalmology, 1991
- Ocular Findings in Patients With Autosomal Dominant Retinitis Pigmentosa and a Rhodopsin Gene Defect (Pro-23-His)American Journal of Ophthalmology, 1991
- Mutations within the Rhodopsin Gene in Patients with Autosomal Dominant Retinitis PigmentosaNew England Journal of Medicine, 1990
- A point mutation of the rhodopsin gene in one form of retinitis pigmentosaNature, 1990
- Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reactionGenomics, 1989
- Molecular Genetics of Human Blue Cone MonochromacyScience, 1989
- Photoproduct frequency is not the major determinant of UV base substitution hot spots or cold spots in human cells.Proceedings of the National Academy of Sciences of the United States of America, 1987
- Membrane morphogenesis in retinal rod outer segments: inhibition by tunicamycin.The Journal of cell biology, 1985
- Distribution of UV light-induced damage in a defined sequence of human DNA: detection of alkaline-sensitive lesions at pyrimidine nucleoside-cytidine sequences.Proceedings of the National Academy of Sciences, 1981
- Molecular basis of base substitution hotspots in Escherichia coliNature, 1978