A proposed consensus panel of organisms for determining evolutionary conservation of mt-tRNA point mutations

  1. Lookup NU author(s)
  2. Dr John Yarham
  3. Professor Bobby McFarland
  4. Professor Robert Taylor
  5. Dr Joanna Elson
Author(s)Yarham JW, McFarland R, Taylor RW, Elson JL
Publication type Article
ISSN (print)1567-7249
ISSN (electronic)1872-8278
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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.
PublisherElsevier BV
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