A Proposed Consensus Panel of Organisms for Determining Evolutionary Conservation of Mt-tRNA Point Mutations

Overview

Journal Mitochondrion

Specialty Cell Biology

Date 2012 Jul 12

PMID 22781547

Citations 14

Authors

John W Yarham

Robert McFarland

Robert W Taylor

Joanna L Elson

Affiliations

Soon will be listed here.

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.

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