Lookup NU author(s): Professor Patrick Chinnery,
Professor Robert Lightowlers,
Professor Doug Turnbull
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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.
Author(s): Lightowlers RN; Chinnery P; Turnbull DM; Herrnstadt C; Preston G; Andrews R; 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
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