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tRNA processing in human mitochondrial disorders

  • Special Issue: RNase MRP/RNase P Systems
  • RNase P
  • Published:
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Abstract

Many human mitochondrial disorders are associated with mutations in tRNA genes or with deletions of regions containing tRNA genes, all of which may be suspected to play a role in recognition by RNase P. Here we describe the analysis of five such mutations. The results presented here demonstrate that none of thse mutations result in errors in RNase P function. Further studies of mutations in tRNAs need to be pursued to elucidate the identity elements for RNase P function in mammalian mitochondria.

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Abbreviations

aaRS:

aminoacyl tRNA synthetase

ATPase:

ATP synthase

COX:

cytochromec oxidase

KSS:

Kearns-Sayre syndrome

MELAS:

mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes

MERRF:

myoclonus epilepsy with ragged-red fibers

cybrid:

cytoplasmic hybrid

mRNA:

messenger RNA

mtDNA:

mitochondrial DNA

mTERF:

transcriptional termination factor

ND1:

NADH-dehydrogenase subunit 1

ρ0 :

mitochondrial DNA-less cell

RNA 19:

unprocessed RNA transcript containing the three continguous genes in the human mtDNA (16S rRNA - ND1 mRNA - tRNALeu(UUR))

RNase P:

ribonuclease P

rRNA:

ribosomal RNA

tRNA:

transfer RNA

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Authors and Affiliations

  1. Department of Genetics and Development, Columbia University, 10032, New York, NY, USA

    Judy P. Masucci & Eric A. Schon

  2. Department of Neurology, Room 4-431, Columbia University, 630 West 168th Street, 10032, New York, NY, USA

    Eric A. Schon

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  1. Judy P. Masucci
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  2. Eric A. Schon
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Masucci, J.P., Schon, E.A. tRNA processing in human mitochondrial disorders. Mol Biol Rep 22, 187–193 (1995). https://doi.org/10.1007/BF00988727

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