tRNA processing in human mitochondrial disorders.
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 these 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.
Masucci
J P
JP
Department of Genetics and Development, Columbia University, New York, NY 10032, USA.
Schon
E A
EA
D000818:Animals; D001483:Base Sequence; D004272:DNA, Mitochondrial / Q000378:metabolism*; D004722:Endoribonucleases / Q000737:chemistry / Q000378:metabolism*; D006801:Humans; D008322:Mammals; D008928:Mitochondria / Q000378:metabolism*; D017240:Mitochondrial Myopathies / Q000201:enzymology / Q000235:genetics*; D008969:Molecular Sequence Data; D009154:Mutation; D009690:Nucleic Acid Conformation; D016337:RNA, Catalytic / Q000737:chemistry / Q000378:metabolism*; D012343:RNA, Transfer / Q000096:biosynthesis* / Q000235:genetics*; D043262:Ribonuclease P; D017384:Sequence Deletion; D014158:Transcription, Genetic
D004272:DNA, Mitochondrial; D016337:RNA, Catalytic; D012343:RNA, Transfer; D004722:Endoribonucleases; C468368:RPP14 protein, human; D043262:Ribonuclease P