Investigation of Heteroplasmy in the Human Mitochondrial DNA Control Region: A Synthesis of Observations from More Than 5000 Global Population Samples

Jodi A. Irwin; Jessica L. Saunier; Harald Niederstätter; Katharine Strouss; Kimberly A. Sturk; Toni M. Diegoli; Anita Kloss‐Brandstätter; Walther Parson; Thomas J. Parsons

doi:10.1007/s00239-009-9227-4

Keywords

HeteroplasmyMitochondrial DNABiologymtDNA control regionGeneticsPopulationPoint mutationMutationHuman mitochondrial geneticsEvolutionary biologyGeneGenotypeHaplotypeDemography

Affiliated Institutions

Related Publications

Estimation of the number of nucleotide substitutions in the control region of mitochondrial DNA in humans and chimpanzees.

Koichiro Tamura , M Nei

Examining the pattern of nucleotide substitution for the control region of mitochondrial DNA (mtDNA) in humans and chimpanzees, we developed a new mathematical method for estima...

1993 Molecular Biology and Evolution 11298 citations

Alzheimer's brains harbor somatic mtDNA control-region mutations that suppress mitochondrial transcription and replication

Pınar Coşkun , M. Flint Beal , Douglas C. Wallace

Defects in mitochondrial oxidative phosphorylation have frequently been associated with Alzheimer's disease (AD), and both inherited and somatic mtDNA mutations have been report...

2004 Proceedings of the National Academy o... 549 citations

Human brain contains high levels of heteroplasmy in the noncoding regions of mitochondrial DNA.

Elena Jazin , Lucia Cavelier , Inger Eriksson +2 more

We have analyzed the level of intraindividual sequence variability (heteroplasmy) of mtDNA in human brain by denaturing gradient gel electrophoresis and sequencing. Single base ...

1996 Proceedings of the National Academy o... 143 citations

Strikingly higher frequency in centenarians and twins of mtDNA mutation causing remodeling of replication origin in leukocytes

Jin Zhang , Jordi Asin-Cayuela , Jennifer L. Fish +7 more

The presence of a genetic component in longevity is well known. Here, the association of a mtDNA mutation with a prolonged life span in humans was investigated. Large-scale scre...

2003 Proceedings of the National Academy o... 167 citations

High aggregate burden of somatic mtDNA point mutations in aging and Alzheimer's disease brain

M.‐T. Lin

The mitochondrial theory of aging proposes that mitochondrial DNA (mtDNA) accumulates mutations with age, and that these mutations contribute to physiological decline in aging a...

2002 Human Molecular Genetics 363 citations

Publication Info

Year: 2009
Type: article
Volume: 68
Issue: 5
Pages: 516-527
Citations: 182
Access: Closed

External Links

View on DOI.org

Social Impact

Altmetric

Investigation of Heteroplasmy in the Human Mitochondrial DNA Control Region: A Synthesis of Observations from More Than 5000 Global Population Samples

PlumX Metrics

Social media, news, blog, policy document mentions

Citation Metrics

182

OpenAlex

Cite This

APA Style

                            
                                
                                    Jodi A. Irwin, 
                                
                                    Jessica L. Saunier, 
                                
                                    Harald Niederstätter
                                
                                et al.
                            
                            (2009). 
                            Investigation of Heteroplasmy in the Human Mitochondrial DNA Control Region: A Synthesis of Observations from More Than 5000 Global Population Samples. 
                            Journal of Molecular Evolution
                            , 68
                            (5)
                            , 516-527.
                            https://doi.org/10.1007/s00239-009-9227-4
                        

Identifiers

DOI: 10.1007/s00239-009-9227-4