期刊
AMERICAN JOURNAL OF HUMAN GENETICS
卷 81, 期 4, 页码 857-862出版社
UNIV CHICAGO PRESS
DOI: 10.1086/521227
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Homozygosity mapping was performed in a consanguineous Sephardic Jewish family with three patients who presented with severe infantile encephalopathy associated with pontocerebellar hypoplasia and multiple mitochondrial respiratory-chain defects. This resulted in the identification of an intronic mutation in RARS2, the gene encoding mitochondrial arginine-transfer RNA (tRNA) synthetase. The mutation was associated with the production of an abnormally short RARS2 transcript and a marked reduction of the mitochondrial tRNA(Arg) transcript in the patients' fibroblasts. We speculate that missplicing mutations in mitochondrial aminoacy1-tRNA synthethase genes preferentially affect the brain because of a tissue-specific vulnerability of the splicing machinery.
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