A single-base change at a splice acceptor site in the ornithine aminotransferase gene causes abnormal RNA splicing in gyrate atrophy

Yukihiko Mashima, Richard G. Weleber, Nancy G. Kennaway, George Inana

Research output: Contribution to journalArticle

7 Citations (Scopus)

Abstract

Gyrate atrophy (GA) is an autosomal recessive eye disease involving a progressive loss of vision due to chorioretinal degeneration in which the mitochondrial matrix enzyme ornithine aminotransferase (OAT) is defective. Two sisters with GA are described in this study in whom an A-to-G substitution at the 3′ splice acceptor site of intron 4 in one allele of the OAT gene results in a truncated OAT mRNA devoid of exon 5 sequence. The mutation in the other allele was identified to be a missense mutation at codon 318 by denaturing gradient gel electrophoresis and direct sequencing of the polymerase chain reaction (PCR)-amplified DNA. Thus, these GA patients are compound heterozygotes with respect to mutations in the OAT gene that result in inactivation of OAT.

Original languageEnglish
Pages (from-to)305-307
Number of pages3
JournalHuman Genetics
Volume90
Issue number3
DOIs
StatePublished - Nov 1 1992

Fingerprint

Gyrate Atrophy
Ornithine-Oxo-Acid Transaminase
RNA Splicing
RNA Splice Sites
Genes
Alleles
Denaturing Gradient Gel Electrophoresis
Mutation
Eye Diseases
Missense Mutation
Heterozygote
Codon
Introns
Siblings
Exons
Polymerase Chain Reaction
Messenger RNA
DNA
Enzymes

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

A single-base change at a splice acceptor site in the ornithine aminotransferase gene causes abnormal RNA splicing in gyrate atrophy. / Mashima, Yukihiko; Weleber, Richard G.; Kennaway, Nancy G.; Inana, George.

In: Human Genetics, Vol. 90, No. 3, 01.11.1992, p. 305-307.

Research output: Contribution to journalArticle

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