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

Journal Article · Tue Oct 15 00:00:00 EDT 1991 · Proceedings of the National Academy of Sciences of the United States of America; (United States)

DOI:https://doi.org/10.1073/pnas.88.20.9370· OSTI ID:5702020

Dryja, T P; Han, L B; Cowley, G S; McGee, T L; Berson, E L ^[1]

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1. Massachusetts Eye and Ear Infirmary, Boston, MA (United States)

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.

• OSTI ID: 5702020
• Journal Information: Proceedings of the National Academy of Sciences of the United States of America; (United States), Vol. 88:20; ISSN 0027-8424
• Country of Publication: United States
• Language: English

Related Subjects

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