Investigation of Heteroplasmy in the Human Mitochondrial DNA Control Region: A Synthesis of Observations from More Than 5000 Global Population Samples
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Summary
Interestingly, these data indicate that the frequency of heteroplasmy differs between particular populations, perhaps reflecting variable mutation rates among different mtDNA lineages and/or artifacts of particular population groups.
- Type
- article
- Published
- 2009-05-01
- Cited by
- 182
- References
- 61
- OpenAlex
- https://openalex.org/W2036827288
- Semantic Scholar
- https://api.semanticscholar.org/CorpusID:7173341
Keywords
Heteroplasmy, Mitochondrial DNA, Biology, mtDNA control region, Genetics
References
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- Do the four clades of the mtDNA haplogroup L2 evolve at different rates?
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- Consistent treatment of length variants in the human mtDNA control region: a reappraisal
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- Mitochondrial D-loop (CA)n repeat length heteroplasmy: frequency in a German population sample and inheritance studies in two pedigrees
- Persistent heteroplasmy of a mutation in the human mtDNA control region: hypermutation as an apparent consequence of simple-repeat expansion/contraction.
Cited by
- The role of mitochondria in the pathophysiology of skeletal muscle insulin resistance.
- The landscape of mitochondrial DNA variation in human colorectal cancer on the background of phylogenetic knowledge.
- Primer effect in the detection of mtDNA heteroplasmy: insights from horse Cytochrome b gene
- DNA Commission of the International Society for Forensic Genetics: revised and extended guidelines for mitochondrial DNA typing.
- Capillary electrophoresis of Big-Dye terminator sequencing reactions for human mtDNA Control Region haplotyping in the identification of human remains.
- Validation of Next-Generation Sequencing of Entire Mitochondrial Genomes and the Diversity of Mitochondrial DNA Mutations in Oral Squamous Cell Carcinoma
- Estudio del genoma mitocondrial en la enfermedad multifactorial y otras aplicaciones poblacionales y forenses
- The origin of Icelandic mtDNA lineages from haplogroup C
- Population Genetic Structure of Traditional Populations in the Peruvian Central Andes and Implications for South American Population History
- Integration of cellular bioenergetics with mitochondrial quality control and autophagy
- Factors affecting the detection and quantification of mitochondrial point heteroplasmy using Sanger sequencing and SNaPshot minisequencing
- Southeast Asian diversity: first insights into the complex mtDNA structure of Laos
- The link between mitochondrial DNA hypervariable segment I heteroplasmy and ageing among genetically unrelated Latvians.
- Quantitative Assessment of Heteroplasmy of Mitochondrial Genome: Perspectives in Diagnostics and Methodological Pitfalls
- Sequence-length variation of mtDNA HVS-I C-stretch in Chinese ethnic groups
- A Twin Study of Mitochondrial DNA Polymorphisms Shows that Heteroplasmy at Multiple Sites Is Associated with mtDNA Variant 16093 but Not with Zygosity
- Mitochondrial DNA analysis of Swedish population samples
- Evidence for frequent and tissue-specific sequence heteroplasmy in human mitochondrial DNA.
- Extensive pathogenicity of mitochondrial heteroplasmy in healthy human individuals
- Length heteroplasmy of the polyC-polyT-polyC stretch in the dog mtDNA control region
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