A proposed consensus panel of organisms for determining evolutionary conservation of mt-tRNA point mutations.
Assigning pathogenicity to mt-tRNA variants requires multiple strands of evidence. Evolutionary conservation is often considered mandatory, but lack of a standard panel of organisms to assess conservation complicates comparison between reports and undermines the value of conservation-based evidence. We demonstrate that intra-species MTT sequence variation is sufficiently low for sequence data from a single organism to adequately represent a species. On this basis, we propose a standardised panel of organisms for conservation assessment and describe integration of this conservation panel into a pathogenicity scoring system designed to assess mt-tRNA variation associated with mitochondrial disease.
Mitochondrial Research Group, Institute for Ageing and Health, The Medical School, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK.
John W
JW
Yarham
Robert
R
McFarland
Robert W
RW
Taylor
Joanna L
JL
Elson
D017124:Conserved Sequence; D050259:Genes, Mitochondrial; D014644:Genetic Variation; D006801:Humans; D028361:Mitochondrial Diseases / Q000175:diagnosis; D017354:Point Mutation; D012313:RNA / Q000235:genetics*; D000077278:RNA, Mitochondrial; D012343:RNA, Transfer / Q000235:genetics*
D000077278:RNA, Mitochondrial; D012313:RNA; D012343:RNA, Transfer