Elsevier

Mitochondrion

Volume 12, Issue 5, September 2012, Pages 533-538
Mitochondrion

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

https://doi.org/10.1016/j.mito.2012.06.009Get rights and content
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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.

Highlights

► Assigning pathogenicity to mt-tRNA variants requires multiple veins of evidence, including evolutionary conservation; however, there is no “standard sequence panel”. ► Species used for conservation assessment previously, noting alarming variation. ► Whether a panel with a single sequence from each organism can be used to assess conservation, given intra species variation. ► We set out robust criteria for sequence selection and suggest a “standard sequence panel”. ► Aid decisions on when to carry out functional studies upon identification of novel mutations and improve consistency of mt-tRNA mutation reporting.

Keywords

Mitochondrial DNA disease
mt-tRNA variation
Evolutionary conservation
Pathogenicity
Scoring system
Intra-species variation

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