title: Gyrate atrophy of the choroid and retina: assignment of the ornithine aminotransferase structural gene to human chromosome 10 and mouse chromosome 7.
abstract: Gyrate atrophy of the choroid and retina is an autosomal recessive, blinding human disease caused by a deficiency of the mitochondrial matrix enzyme ornithine aminotransferase (OAT). Since human OAT cDNA hybridizes to DNA sequences on both human chromosomes 10 and X, a locus coding for OAT enzyme activity may be present on one or both of these human chromosomes. We have used a series of mouse-human somatic cell hybrids, in combination with starch gel electrophoresis and a histochemical stain for OAT enzyme activity, to assign the structural gene for OAT to human chromosome 10. Our results suggest that the human X chromosome does not contain a locus coding for OAT enzyme activity. In addition, we have used a panel of Chinese hamster-mouse hybrids to assign the murine Oat structural gene to mouse chromosome 7. Our findings, combined with recent molecular studies, indicate that human OAT probes specific for chromosome 10 will be useful for the diagnosis and genetic counseling of individuals at risk for gyrate atrophy.
authors.affiliation: Department of Ophthalmology, University of California, San Francisco 94143.
authors.forename: J J
authors.initials: JJ
authors.lastname: O'Donnell
authors.forename: K
authors.initials: K
authors.lastname: Vannas-Sulonen
authors.forename: T B
authors.initials: TB
authors.lastname: Shows
authors.forename: D R
authors.initials: DR
authors.lastname: Cox
mesh_terms: D000818:Animals; D001284:Atrophy; D002829:Choroid / Q000473:pathology*; D002874:Chromosome Mapping; D002879:Chromosomes, Human, Pair 10; D006224:Cricetinae; D003412:Cricetulus; D004247:DNA / Q000235:genetics; D005796:Genes; D005819:Genetic Markers; D006801:Humans; D006822:Hybrid Cells; D051379:Mice; D009953:Ornithine-Oxo-Acid Transaminase / Q000172:deficiency / Q000235:genetics*; D012162:Retinal Degeneration / Q000201:enzymology / Q000235:genetics*; D000637:Transaminases / Q000235:genetics*; D014603:Uveal Diseases / Q000201:enzymology / Q000235:genetics
chemical_list: D005819:Genetic Markers; D004247:DNA; D000637:Transaminases; D009953:Ornithine-Oxo-Acid Transaminase