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Title: Mutation spectrum of the rhodopsin gene among patients with autosomal dominant retinitis pigmentosa

Abstract

The authors 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 the authors reported previously, they 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. They 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.

Authors:
; ; ; ;  [1]
  1. (Massachusetts Eye and Ear Infirmary, Boston, MA (United States))
Publication Date:
OSTI Identifier:
5702020
Resource Type:
Journal Article
Resource Relation:
Journal Name: Proceedings of the National Academy of Sciences of the United States of America; (United States); Journal Volume: 88:20
Country of Publication:
United States
Language:
English
Subject:
59 BASIC BIOLOGICAL SCIENCES; DNA; AUTORADIOGRAPHY; GENE MUTATIONS; DNA SEQUENCING; RETINA; BIODEGRADATION; RHODOPSIN; AMINO ACID SEQUENCE; GENE AMPLIFICATION; GENES; HUMAN POPULATIONS; PHOSPHORUS 32; BETA DECAY RADIOISOTOPES; BETA-MINUS DECAY RADIOISOTOPES; BODY; BODY AREAS; CHEMICAL REACTIONS; DAYS LIVING RADIOISOTOPES; DECOMPOSITION; EYES; FACE; HEAD; ISOTOPES; LIGHT NUCLEI; MOLECULAR STRUCTURE; MUTATIONS; NUCLEI; NUCLEIC ACIDS; ODD-ODD NUCLEI; ORGANIC COMPOUNDS; ORGANS; PHOSPHORUS ISOTOPES; PIGMENTS; POPULATIONS; PROTEINS; RADIOISOTOPES; SENSE ORGANS; STRUCTURAL CHEMICAL ANALYSIS; 550201* - Biochemistry- Tracer Techniques

Citation Formats

Dryja, T.P., Han, L.B., Cowley, G.S., McGee, T.L., and Berson, E.L. Mutation spectrum of the rhodopsin gene among patients with autosomal dominant retinitis pigmentosa. United States: N. p., 1991. Web. doi:10.1073/pnas.88.20.9370.
Dryja, T.P., Han, L.B., Cowley, G.S., McGee, T.L., & Berson, E.L. Mutation spectrum of the rhodopsin gene among patients with autosomal dominant retinitis pigmentosa. United States. doi:10.1073/pnas.88.20.9370.
Dryja, T.P., Han, L.B., Cowley, G.S., McGee, T.L., and Berson, E.L. Tue . "Mutation spectrum of the rhodopsin gene among patients with autosomal dominant retinitis pigmentosa". United States. doi:10.1073/pnas.88.20.9370.
@article{osti_5702020,
title = {Mutation spectrum of the rhodopsin gene among patients with autosomal dominant retinitis pigmentosa},
author = {Dryja, T.P. and Han, L.B. and Cowley, G.S. and McGee, T.L. and Berson, E.L.},
abstractNote = {The authors 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 the authors reported previously, they 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. They 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.},
doi = {10.1073/pnas.88.20.9370},
journal = {Proceedings of the National Academy of Sciences of the United States of America; (United States)},
number = ,
volume = 88:20,
place = {United States},
year = {Tue Oct 15 00:00:00 EDT 1991},
month = {Tue Oct 15 00:00:00 EDT 1991}
}