Large scale mtDNA sequencing reveals sequence and functional conservation as major determinants of homoplasmic mtDNA variant distribution.
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ABSTRACT:
SUBMITTER: Voets AM
PROVIDER: S-EPMC4038511 | biostudies-literature | 2011 Nov
REPOSITORIES: biostudies-literature
Publications
Large scale mtDNA sequencing reveals sequence and functional conservation as major determinants of homoplasmic mtDNA variant distribution.
Voets A M AM van den Bosch B J C BJ Stassen A P AP Hendrickx A T AT Hellebrekers D M DM Van Laer L L Van Eyken E E Van Camp G G Pyle A A Baudouin S V SV Chinnery P F PF Smeets H J M HJ
Mitochondrion 20110917 6
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 position ...[more]
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