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


ABSTRACT: 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.

SUBMITTER: Yarham JW 

PROVIDER: S-EPMC3510436 | biostudies-literature | 2012 Sep

REPOSITORIES: biostudies-literature

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

Yarham John W JW   McFarland Robert R   Taylor Robert W RW   Elson Joanna L JL  

Mitochondrion 20120707 5


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  ...[more]

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