A high frequency of mtDNA polymorphisms in HeLa cell sublines (2002)

Author(s): Lightowlers RN; Chinnery P; Turnbull DM; Herrnstadt C; Preston G; Andrews R; Kubacka I; Howell N

  • : A high frequency of mtDNA polymorphisms in HeLa cell sublines

Abstract: The complete mtDNA sequences from the uncloned "founder" HeLa cells and from five sublines have been determined. These sequences all carry a common "core" of 38 single basepair alterations relative to the revised Cambridge Reference Sequence (CRS). The HeLa mitochondrial genome is of African descent and it is a member of the African L3 haplogroup. The sequence of the HeLa mtDNA resolves the uncertainty surrounding the mosaic composition of the original CRS for human mtDNA. Most importantly, we detected a total of eight polymorphisms that have arisen in the mtDNA coding region of different HeLa sublines. These observations suggest that HeLa mtDNA has a high rate of sequence divergence, relative to the phylogenetically-derived divergence rate for mtDNAs in the human population, which results from a relaxation of negative selection against the fixation of deleterious mutations. Furthermore, this high frequency of polymorphisms in HeLa mtDNA may reflect a process similar to the accumulation of somatic mtDNA mutations in human cancers. Preliminary analysis of single-cell derived subclone lines revealed the occurrence of another polymorphism and provided evidence for a large number of mtDNA segregation units.

  • Short Title: A high frequency of mtDNA polymorphisms in HeLa cell sublines
  • Date: 25-04-2002
  • Journal: Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis
  • Volume: 501
  • Issue: 1-2
  • Pages: 19-28
  • Publisher: Elsevier BV
  • Publication type: Article
  • Bibliographic status: Published

Keywords: Base Sequence DNA, Mitochondrial/*genetics Hela Cells Human Molecular Sequence Data *Polymorphism (Genetics) Support, Non-U.S. Gov't Support, U.S. Gov't, Non-P.H.S.