Browse by author
Lookup NU author(s): Professor Patrick Chinnery,
Professor Robert Lightowlers,
Emeritus Professor Doug Turnbull
Full text for this publication is not currently held within this repository. Alternative links are provided below where available.
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. (C) 2002 Elsevier Science B.V. All rights reserved.
Author(s): Herrnstadt C, Preston G, Andrews R, Chinnery P, Lightowlers RN, Turnbull DM, Kubacka I, Howell N
Publication type: Article
Publication status: Published
Journal: Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis
ISSN (print): 1386-1964
Publisher: Elsevier BV
Altmetrics provided by Altmetric