ArticleInternational journal of legal medicine2010
Evaluating length heteroplasmy in the human mitochondrial DNA control region.
Article in International journal of legal medicine, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 32 citations in OpenAlex.
- DNA and protein analyses of hair in forensic genetics.International journal of legal medicine · 2023Review
- Exploring statistical weight estimates for mitochondrial DNA matches involving heteroplasmy.International journal of legal medicine · 2022Article
- Length heterogeneity at conserved sequence block 2 in human mitochondrial DNA acts as a rheostat for RNA polymerase POLRMT activity.Nucleic acids research · 2016Article
- Length heteroplasmy of the polyC-polyT-polyC stretch in the dog mtDNA control region.International journal of legal medicine · 2015Article
- Article
- Development and assessment of an optimized next-generation DNA sequencing approach for the mtgenome using the Illumina MiSeq.Forensic science international. Genetics · 2014Article
- From next-generation sequencing alignments to accurate comparison and validation of single-nucleotide variants: the pibase software.Nucleic acids research · 2013Article
- Article
- Second generation sequencing allows for mtDNA mixture deconvolution and high resolution detection of heteroplasmy.Croatian medical journal · 2011Article
- Evaluating sequence-derived mtDNA length heteroplasmy by amplicon size analysis.Forensic science international. Genetics · 2011Article
- Publication of population data of linearly inherited DNA markers in the International Journal of Legal Medicine.International journal of legal medicine · 2010Article
- Sequence polymorphisms of mtDNA HV1, HV2, and HV3 regions in the Malay population of Peninsular Malaysia.International journal of legal medicine · 2010Article
- Mitochondrial DNA Mutations Induced by Carbon Ions Radiation: A Preliminary Study.Dose-response : a publication of International Hormesis SocietyArticle
Corrections and comments
- Erratum issued
Authors and funding
7 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We present allelic data for three known and one new C-tract in the human mitochondrial DNA (mtDNA) control region, and we measure intergenerational mutation rates at such C-tracts. In detail, in a sample of 1,172 mtDNA sequences, we demonstrate the existence of an instability threshold of eight consecutive cytosines, at and above which the phenomenon of length heteroplasmy arises. To determine mutation rates, we draw on mtDNA sequences in up to four generations of 248 pedigrees for families living in high or low-radiation environmental conditions. The high-radiation sample gives the most conservative (fastest) mutation rate likely to be encountered in any forensic context. We find that the C-tract mutation rate is up to 6% per generation, and we observe an excess of cytosine gains over losses. Case studies and guidelines for evaluating mtDNA heteroplasmy are provided.
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