Functional Analysis of Missense Mutations of OAT, Causing Gyrate Atrophy of Choroid and Retina

@article{Doimo2013FunctionalAO,
  title={Functional Analysis of Missense Mutations of OAT, Causing Gyrate Atrophy of Choroid and Retina},
  author={Mara Doimo and M. A. Desbats and Maria Cristina Baldoin and E. Lenzini and G. Basso and E. Murphy and Claudio Graziano and M. Seri and A. Burlina and G. Sartori and E. Trevisson and L. Salviati},
  journal={Human Mutation},
  year={2013},
  volume={34}
}
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 enzymatic activity. However, the effect on the yeast growth was variable, suggesting… Expand
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