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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
A proposed consensus panel of organisms for determining evolutionary conservation of mt-tRNA point mutations
Mitochondrion, Volume 12, No. 5, Year 2012
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Description
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. © 2012 Elsevier B.V. and Mitochondria Research Society.
Authors & Co-Authors
Yarham, John W.
United Kingdom, Newcastle
Newcastle University
McFarland, Robert M.
United Kingdom, Newcastle
Newcastle University
Taylor, Robert William
United Kingdom, Newcastle
Newcastle University
Elson, Joanna L.
United Kingdom, Newcastle
Newcastle University
Statistics
Citations: 29
Authors: 4
Affiliations: 1
Identifiers
Doi:
10.1016/j.mito.2012.06.009
ISSN:
18728278