A high frequency of mtDNA polymorphisms in HeLa cell sublines

Herrnstadt, Corinna; Preston, Gwen; Andrews, Richard M.; Chinnery, Patrick F.; Lightowlers, Robert N.; Turnbull, Douglass M.; Kubacka, Iwona; Howell, Neil

doi:10.1016/s0027-5107(01)00304-9

Cited by 37 publications

(19 citation statements)

References 24 publications

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“…Curiously, mice cell lines included in our analyses have accumulated a similar number of substitutions to that observed for mouse inbred strains, although it had been reported that relaxation of negative selection resulted in a high substitution rate in HeLa cell lines, when compared with phylogenetically derived divergence of mtDNAs (Herrnstadt et al 2002). Evolutionary rates of inbred mouse mtDNA appear to be closer to cell lines than to wild mice, suggesting that laboratory controlled conditions with strict bottlenecks may also account for the higher substitution rate.…”

Section: Different Mtdna Evolution In Wild and Inbred Strainsmentioning

confidence: 85%

mtDNA phylogeny and evolution of laboratory mouse strains

Goios¹,

Pereira²,

Bogue³

et al. 2007

Genome Res.

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Inbred mouse strains have been maintained for more than 100 years, and they are thought to be a mixture of four different mouse subspecies. Although genealogies have been established, female inbred mouse phylogenies remain unexplored. By a phylogenetic analysis of newly generated complete mitochondrial DNA sequence data in 16 strains, we show here that all common inbred strains descend from the same Mus musculus domesticus female wild ancestor, and suggest that they present a different mitochondrial evolutionary process than their wild relatives with a faster accumulation of replacement substitutions. Our data complement forthcoming results on resequencing of a group of priority strains, and they follow recent efforts of the Mouse Phenome Project to collect and make publicly available information on various strains.

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Section: Different Mtdna Evolution In Wild and Inbred Strainsmentioning

confidence: 85%

mtDNA phylogeny and evolution of laboratory mouse strains

Goios¹,

Pereira²,

Bogue³

et al. 2007

Genome Res.

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“…In addition, there is likely to have been a significant number of mtDNA mutations present within these stem cells that were not detected. Automated fluorescent-sequencing techniques and real-time PCR will only detect moderate levels of a heteroplasmic change (>25% and >40%, respectively) (14,39), and lowlevel heteroplasmy would be missed. If a significant number of stem cells accumulate mutations, it becomes clear that within an individual there will be a mixture of mutations, which may influence tissue function.…”

Section: Figurementioning

confidence: 99%

Mitochondrial DNA mutations in human colonic crypt stem cells

Taylor¹,

Barron²,

Borthwick³

et al. 2003

J. Clin. Invest.

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462

383

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“…We have analyzed other doubly heteroplasmic pedigrees (Howell et al 2003b) and doubly and triply heteroplasmic HeLa cell lines (Herrnstadt et al 2002), but this is the first such anomaly of this type that we have detected.…”

Section: Discussionmentioning

confidence: 97%

Co-segregation and heteroplasmy of two coding-region mtDNA mutations within a matrilineal pedigree

et al. 2004

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The ENG1 Leber's hereditary optic neuropathy (LHON) family spans six generations and comprises more than 90 maternally related individuals. In this pedigree, the G:A LHON mutation at nucleotide position 11778 shows a complex pattern of segregation in which it is homoplasmic mutant in two branches, homoplasmic wildtype in another, and heteroplasmic in a fourth branch. In addition, there is co-segregation of the 11778 mutant allele and of a G:A silent polymorphism at nucleotide position 5471 in 18 of 19 family members. This co-segregation indicates that the two substitutions arose either simultaneously, or nearly so, in the same "founder" mtDNA molecule. However, the highly divergent mitochondrial allele ratios in the one family member suggest that there has been a complex origin and segregation "history" of these two substitutions. Taking all of the results into consideration, the evidence supports sequential single mutations at sites 5471 and 11778, in close temporal proximity, with subsequent segregation of the intermediate mutational genotype to high levels in one branch of the ENG1 LHON family. In other branches, either the double wildtype or double mutant genotype has become essentially homoplasmic.

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A high frequency of mtDNA polymorphisms in HeLa cell sublines

Cited by 37 publications

References 24 publications

mtDNA phylogeny and evolution of laboratory mouse strains

mtDNA phylogeny and evolution of laboratory mouse strains

Mitochondrial DNA mutations in human colonic crypt stem cells

Co-segregation and heteroplasmy of two coding-region mtDNA mutations within a matrilineal pedigree

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