Article
Functional analysis of missense mutations of OAT, causing gyrate atrophy of choroid and retina.
Human mutation - 1 Jan 2013
Doimo Mara, Desbats Maria Andrea, Baldoin Maria Cristina, Lenzini Elisabetta, Basso Giuseppe, Murphy Elaine, Graziano Claudio, Seri Marco, Burlina Alberto, Sartori Geppo, Trevisson Eva, Salviati Leonardo
Abstract excerpt
We studied eight kindreds with gyrate atrophy of choroid and retina (GA), a rare autosomal recessive disorder caused by mutations of the OAT gene, encoding the homoexameric enzyme ornithine-delta-aminotransferase. We identified four novel and five previously reported mutations. Missense alleles were expressed in yeast strain carrying a deletion of the orthologous of human OAT. All mutations markedly reduced...
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