Next-generation sequencing of human mitochondrial reference genomes uncovers high heteroplasmy frequency

PLoS Comput Biol. 2012;8(10):e1002737. doi: 10.1371/journal.pcbi.1002737. Epub 2012 Oct 25.

Abstract

We describe methods for rapid sequencing of the entire human mitochondrial genome (mtgenome), which involve long-range PCR for specific amplification of the mtgenome, pyrosequencing, quantitative mapping of sequence reads to identify sequence variants and heteroplasmy, as well as de novo sequence assembly. These methods have been used to study 40 publicly available HapMap samples of European (CEU) and African (YRI) ancestry to demonstrate a sequencing error rate <5.63×10(-4), nucleotide diversity of 1.6×10(-3) for CEU and 3.7×10(-3) for YRI, patterns of sequence variation consistent with earlier studies, but a higher rate of heteroplasmy varying between 10% and 50%. These results demonstrate that next-generation sequencing technologies allow interrogation of the mitochondrial genome in greater depth than previously possible which may be of value in biology and medicine.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Black People / genetics
  • DNA, Mitochondrial / genetics*
  • Databases, Genetic
  • Genetic Variation
  • Genome, Mitochondrial / genetics*
  • Genomics / methods*
  • HapMap Project
  • Humans
  • Polymerase Chain Reaction
  • Sequence Alignment
  • Sequence Analysis, DNA / methods*
  • White People / genetics

Substances

  • DNA, Mitochondrial

Grants and funding

This work was supported by internal funding. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.