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

Lookup NU author(s): Dr John Yarham, Professor Bobby McFarlandORCiD, Professor Robert Taylor, Dr Joanna Elson


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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.

Publication metadata

Author(s): Yarham JW, McFarland R, Taylor RW, Elson JL

Publication type: Article

Publication status: Published

Journal: Mitochondrion

Year: 2012

Volume: 12

Issue: 5

Pages: 533-538

Print publication date: 07/07/2012

ISSN (print): 1567-7249

ISSN (electronic): 1872-8278

Publisher: Elsevier BV


DOI: 10.1016/j.mito.2012.06.009


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Funder referenceFunder name
HEFCE/DoH Clinical Senior Lecturer Award
Medical Research Council (UK)
NHS Specialist Commissioners which fund The Rare Mitochondrial Disease Service for Adults and Children
Research Council UK RCUK Academic fellowship
074454/Z/04/ZWellcome Trust
G0800674MRC Centre for Translational Research in Neuromuscular Disease Mitochondrial Disease Patient Cohort (UK)