Deficient methylation and formylation of mt-tRNAMet wobble cytosine in a patient carrying mutations in NSUN3
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منابع مشابه
Deficient methylation and formylation of mt-tRNAMet wobble cytosine in a patient carrying mutations in NSUN3
Epitranscriptome modifications are required for structure and function of RNA and defects in these pathways have been associated with human disease. Here we identify the RNA target for the previously uncharacterized 5-methylcytosine (m(5)C) methyltransferase NSun3 and link m(5)C RNA modifications with energy metabolism. Using whole-exome sequencing, we identified loss-of-function mutations in N...
متن کاملDeficient methylation and formylation of mt-tRNA wobble cytosine in a patient carrying mutations in NSUN3
(2016) Deficient methylation and formylation of mt-tRNAMet wobble cytosine in a patient carrying mutations in NSUN3. This version is made available in accordance with publisher policies. Please cite only the published version using the reference above. Austria + The authors contributed equally. Abstract Epitranscriptome modifications are required for structure and function of RNA and defects in...
متن کاملNSUN3 and ABH1 modify the wobble position of mt‐tRNA Met to expand codon recognition in mitochondrial translation
Mitochondrial gene expression uses a non-universal genetic code in mammals. Besides reading the conventional AUG codon, mitochondrial (mt-)tRNAMet mediates incorporation of methionine on AUA and AUU codons during translation initiation and on AUA codons during elongation. We show that the RNA methyltransferase NSUN3 localises to mitochondria and interacts with mt-tRNAMet to methylate cytosine 3...
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ژورنال
عنوان ژورنال: Nature Communications
سال: 2016
ISSN: 2041-1723
DOI: 10.1038/ncomms12039