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PMID: 8394174 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, P.H.S.

Recessive mutations in the gene encoding the beta-subunit of rod phosphodiesterase in patients with retinitis pigmentosa.

Nature genetics ·Vol. 4 ·No. 2 ·1993-06-00 ·Pages 130-4

McLaughlin ME, Sandberg MA, Berson EL, Dryja TP

Abstract

We have found four mutations in the human gene encoding the beta-subunit of rod cGMP phosphodiesterase (PDE beta) that cosegregate with autosomal recessive retinitis pigmentosa, a degenerative disease of photoreceptors. In one family two affected siblings both carry allelic nonsense mutations at codons 298 and 531. Affected individuals have abnormal rod and cone electroretinograms. PDE beta is the second member of the phototransduction cascade besides rhodopsin that is absent or altered as a cause of retinitis pigmentosa, suggesting that other members of this pathway may be defective in other forms of this disease.

Related Genes

RDS rd rds

MeSH Terms

3',5'-Cyclic-GMP Phosphodiesterases/deficiency,genetics Amino Acid Sequence Animals Base Sequence Codon Cyclic Nucleotide Phosphodiesterases, Type 6 DNA Mutational Analysis DNA, Single-Stranded/genetics Disease Models, Animal Dog Diseases/genetics Dogs Electroretinography Eye Proteins/genetics Female Genes, Recessive Humans Male Mice Mice, Mutant Strains/genetics Molecular Sequence Data Mutation Nucleic Acid Conformation Pedigree Phosphoric Diester Hydrolases Photoreceptor Cells/enzymology,physiology,radiation effects Polymorphism, Genetic Retinal Degeneration/genetics Retinal Dysplasia/genetics,veterinary Retinitis Pigmentosa/classification,genetics Rhodopsin/genetics Signal Transduction

Chemicals

Codon DNA, Single-Stranded Eye Proteins Rhodopsin Phosphoric Diester Hydrolases 3',5'-Cyclic-GMP Phosphodiesterases Cyclic Nucleotide Phosphodiesterases, Type 6 PDE6B protein, human Pde6b protein, mouse

Authors & Affiliations

4 authors, click to expand affiliations / ORCID

McLaughlin M E

Berman-Gund Laboratory, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston 02114.

Sandberg M A

Berson E L

Dryja T P

Article Info

Journal

Nature genetics

Abbr.

Nat Genet

ISSN

1061-4036

DOI

10.1038/ng0693-130

Published

1993-06-00

Pages

130-4

Language

English

Region

United States

NLM ID

9216904

Subset

Grants

NEI NIH HHS · EY00169 · United States

NEI NIH HHS · EY08683 · United States

External Links

PubMed source DOI: 10.1038/ng0693-130 View journal details

Analysis Services

Recessive mutations in the gene encoding the beta-subunit of rod phosphodiesterase in patients with retinitis pigmentosa.

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