PMID: 9421512Feb 28, 1998Paper

Effect of a mutation in the anticodon of human mitochondrial tRNAPro on its post-transcriptional modification pattern

Nucleic Acids Research
H BruléC Florentz

Abstract

Although the gene sequences of all 22 tRNAs encoded in the human mitochondrial genome are known, little information exists about their sequences at the RNA level. This becomes a crucial limitation when searching for a molecular understanding of the growing number of maternally inherited human diseases correlated with point mutations in tRNA genes. Here we describe the sequence of human mt-tRNAPropurified from placenta. It shows absence of editing events in this tRNA and highlights the presence of eight post-transcriptional modifications. These include T54, never found so far in an animal mt-tRNA, and m1G37, a modification known to have fundamental functional properties in a number of canonical tRNAs. Occurrence of m1G37 was further investigated in an analysis of the substrate properties of in vitro transcripts of human mt-tRNAProtowards pure Escherichia coli methylguanosine transferase. This enzyme properly methylates G37 in mt-tRNA and is sensitive to the presence of a second G at position 36, neighboring the target nucleotide for methylation. Since mutation of nt 36 was shown to be correlated with myopathy, the potential consequences of non-modification or under-modification of mt-tRNA nucleotides in expression of the particu...Continue Reading

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Mar 14, 2008·Human Molecular Genetics·Sabrina SacconiMercy M Davidson
Aug 19, 2014·Nucleic Acids Research·Stefanie KellnerMark Helm
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