Journal
MITOCHONDRION
Volume 11, Issue 6, Pages 964-972Publisher
ELSEVIER SCI LTD
DOI: 10.1016/j.mito.2011.09.003
Keywords
MitoChip; mtDNA variants; Distribution; Pathogenicity
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Funding
- Wellcome Trust [084980] Funding Source: Medline
- National Institute for Health Research [NF-SI-0509-10011] Funding Source: researchfish
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The mitochondrial DNA (mtDNA) is highly variable, containing large numbers of pathogenic mutations and neutral polymorphisms. The spectrum of homoplasmic mtDNA variation was characterized in 730 subjects and compared with known pathogenic sites. The frequency and distribution of variants in protein coding genes were inversely correlated with conservation at the amino acid level. Analysis of tRNA secondary structures indicated a preference of variants for the loops and some acceptor stem positions. This comprehensive overview of mtDNA variants distinguishes between regions and positions which are likely not critical, mainly conserved regions with pathogenic mutations and essential regions containing no mutations at all. (C) 2011 Elsevier BM. and Mitochondria Research Society. All rights reserved.
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