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Scientific article
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English

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

Contributors

Sosa, Maria Ximena; Sivakumar, I K Ashok; Maragh, Samantha; Veeramachaneni, Vamsi; Hariharan, Ramesh; Parulekar, Minothi; Fredrikson, Karin M; Harkins, Timothy T; Lin, Jeffrey; Feldman, Andrew B; Tata, Pramila; Ehret, Georg Benedikt; Chakravarti, Aravinda

Published in

PLoS computational biology, vol. 8, no. 10, e1002737

Publication date

2012

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.

Keywords

  • African Continental Ancestry Group/genetics
  • DNA, Mitochondrial/genetics
  • Databases, Genetic
  • European Continental Ancestry Group/genetics
  • Genetic Variation
  • Genome, Mitochondrial/genetics
  • Genomics/methods
  • HapMap Project
  • Humans
  • Polymerase Chain Reaction
  • Sequence Alignment
  • Sequence Analysis, DNA/methods

UNIGE affiliation entities

UNIGE research groups

Citation (ISO format)

SOSA, Maria Ximena et al. Next-generation sequencing of human mitochondrial reference genomes uncovers high heteroplasmy frequency. In: PLoS computational biology, 2012, vol. 8, n° 10, p. e1002737. doi: 10.1371/journal.pcbi.1002737

Main files (1)

Article (Published version)

Identifiers

Journal ISSN

1553-734X
691views
390downloads

Technical informations

Creation

03/11/2013 10:08:00

First validation

03/11/2013 10:08:00

Update

24/01/2025 14:01:36

Status update

24/01/2025 14:01:36

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