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Large scale mtDNA sequencing reveals sequence and functional conservation as major determinants of homoplasmic mtDNA variant distribution

Lookup NU author(s): Dr Angela Pyle, Dr Simon Baudouin, Professor Patrick Chinnery


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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

Publication metadata

Author(s): Voets AM, van den Bosch BJ, Stassen AP, Hendrickx AT, Hellebrekers DM, Van Laer L, Van Eyken E, VanCamp G, Pyle A, Baudouin SV, Chinnery PF, Smeets HJ

Publication type: Article

Publication status: Published

Journal: Mitochondrion

Year: 2011

Volume: 11

Issue: 6

Pages: 964-972

Print publication date: 17/09/2011

ISSN (print): 1567-7249

ISSN (electronic): 1872-8278

Publisher: Elsevier BV


DOI: 10.1016/j.mito.2011.09.003

PubMed id: 21946566


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