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Mitochondrion. 2012 Sep;12(5):533-8. doi: 10.1016/j.mito.2012.06.009. Epub 2012 Jul 7.

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

Author information

1
Mitochondrial Research Group, Institute for Ageing and Health, The Medical School, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK.

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.

PMID:
22781547
PMCID:
PMC3510436
DOI:
10.1016/j.mito.2012.06.009
[Indexed for MEDLINE]
Free PMC Article

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