A proposed consensus panel of organisms for determining evolutionary conservation of mt-tRNA point mutations
Under a Creative Commons license
open access
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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Copyright © 2012 Elsevier B.V. and Mitochondria Research Society.