Extreme heterogeneity of human mitochondrial DNA from organelles to populations

Metabolic effects of bezafibrate in mitochondrial disease

(2020) Hannah Steele et al.   EMBO Molecular Medicine

Interactions between cytoplasmic and nuclear genomes confer sex‐specific effects on lifespan in Drosophila melanogaster

(2020) Rebecca C. Vaught et al.   JOURNAL OF EVOLUTIONARY BIOLOGY

Comprehensive molecular characterization of mitochondrial genomes in human cancers

(2020) Yuan Yuan et al.   NATURE GENETICS

A spontaneous mitonuclear epistasis converging on Rieske Fe-S protein exacerbates complex III deficiency in mice

(2020) Janne Purhonen et al.   Nature Communications

Niacin Cures Systemic NAD+ Deficiency and Improves Muscle Performance in Adult-Onset Mitochondrial Myopathy

(2020) Eija Pirinen et al.   Cell Metabolism

Inheritance of mitochondrial DNA in humans: implications for rare and common diseases

(2020) W. Wei et al.   JOURNAL OF INTERNAL MEDICINE

N6-Deoxyadenosine Methylation in Mammalian Mitochondrial DNA

(2020) Ziyang Hao et al.   MOLECULAR CELL

Nuclear-mitochondrial DNA segments resemble paternally inherited mitochondrial DNA in humans

(2020) Wei Wei et al.   Nature Communications

No evidence for DNA N6-methyladenine in mammals

(2020) Karolos Douvlataniotis et al.   Science Advances

Extraordinary claims require extraordinary evidence in asserted mtDNA biparental inheritance

(2020) Antonio Salas et al.   Forensic Science International-Genetics

A bacterial cytidine deaminase toxin enables CRISPR-free mitochondrial base editing

(2020) Beverly Y. Mok et al.   NATURE

A High-Density Human Mitochondrial Proximity Interaction Network

(2020) Hana Antonicka et al.   Cell Metabolism

Mitochondrial proteins: from biogenesis to functional networks

(2019) Nikolaus Pfanner et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

A battle for transmission: the cooperative and selfish animal mitochondrial genomes

(2019) Anna Klucnika et al.   Open Biology

Copy-choice recombination during mitochondrial L-strand synthesis causes DNA deletions

(2019) Örjan Persson et al.   Nature Communications

PINK1 Inhibits Local Protein Synthesis to Limit Transmission of Deleterious Mitochondrial DNA Mutations

(2019) Yi Zhang et al.   MOLECULAR CELL

Interactions Between Mitochondrial Haplotype and Dietary Macronutrient Ratios Confer Sex-Specific Effects on Longevity in Drosophila melanogaster

(2019) Venkatesh Nagarajan-Radha et al.   JOURNALS OF GERONTOLOGY SERIES A-BIOLOGICAL SCIENCES AND MEDICAL SCIENCES

Mitochondrial fragmentation drives selective removal of deleterious mtDNA in the germline

(2019) Toby Lieber et al.   NATURE

Germline selection shapes human mitochondrial DNA diversity

(2019) Wei Wei et al.   SCIENCE

The strand-biased mitochondrial DNA methylome and its regulation by DNMT3A

(2019) Xiaoyang Dou et al.   GENOME RESEARCH

NUMT Confounding Biases Mitochondrial Heteroplasmy Calls in Favor of the Reference Allele

(2019) Hannah Maude et al.   Frontiers in Cell and Developmental Biology

Mitochondrial Dynamics and Its Involvement in Disease

(2019) David C. Chan   Annual Review of Pathology-Mechanisms of Disease

Reversion after replacement of mitochondrial DNA

(2019) Gavin Hudson et al.   NATURE

Bottleneck and selection in the germline and maternal age influence transmission of mitochondrial DNA in human pedigrees

(2019) Arslan A. Zaidi et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Sharing of heteroplasmies between human liver lobes varies across the mtDNA genome

(2019) Alexander Hübner et al.   Scientific Reports

Regulation of Mother-to-Offspring Transmission of mtDNA Heteroplasmy

(2019) Ana Latorre-Pellicer et al.   Cell Metabolism

Mitonuclear conflict and cooperation govern the integration of genotypes, phenotypes and environments

(2019) David M. Rand et al.   PHILOSOPHICAL TRANSACTIONS OF THE ROYAL SOCIETY B-BIOLOGICAL SCIENCES

Pronounced somatic bottleneck in mitochondrial DNA of human hair

(2019) Alison Barrett et al.   PHILOSOPHICAL TRANSACTIONS OF THE ROYAL SOCIETY B-BIOLOGICAL SCIENCES

Mitochondrial heteroplasmy beyond the oocyte bottleneck

(2019) Jelle van den Ameele et al.   SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY

Mitochondrial DNA Heteroplasmy and Purifying Selection in the Mammalian Female Germ Line

(2018) Stephen P. Burr et al.   DEVELOPMENT GROWTH & DIFFERENTIATION

The mitochondrial DNA genetic bottleneck: inheritance and beyond

(2018) Haixin Zhang et al.   Essays in Biochemistry

An overview of mammalian mitochondrial DNA replication mechanisms

(2018) Takehiro Yasukawa et al.   JOURNAL OF BIOCHEMISTRY

Segregation of mitochondrial DNA heteroplasmy through a developmental genetic bottleneck in human embryos

(2018) Vasileios I. Floros et al.   NATURE CELL BIOLOGY

Enhancing the accuracy of next-generation sequencing for detecting rare and subclonal mutations

(2018) Jesse J. Salk et al.   NATURE REVIEWS GENETICS

Base-excision repair deficiency alone or combined with increased oxidative stress does not increase mtDNA point mutations in mice

(2018) Johanna H K Kauppila et al.   NUCLEIC ACIDS RESEARCH

Mitochondrial DNA Variation Dictates Expressivity and Progression of Nuclear DNA Mutations Causing Cardiomyopathy

(2018) Meagan J. McManus et al.   Cell Metabolism

Assessing mitochondrial heteroplasmy using next generation sequencing: A note of caution

(2018) Mauro Santibanez-Koref et al.   MITOCHONDRION

Deep mitochondrial origin outside the sampled alphaproteobacteria

(2018) Joran Martijn et al.   NATURE

MitoTALEN reduces mutant mtDNA load and restores tRNAAla levels in a mouse model of heteroplasmic mtDNA mutation

(2018) Sandra R. Bacman et al.   NATURE MEDICINE

Genome editing in mitochondria corrects a pathogenic mtDNA mutation in vivo

(2018) Payam A. Gammage et al.   NATURE MEDICINE

The machineries, regulation and cellular functions of mitochondrial calcium

(2018) Carlotta Giorgi et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Associations of Mitochondrial and Nuclear Mitochondrial Variants and Genes with Seven Metabolic Traits

(2018) Aldi T. Kraja et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Biparental Inheritance of Mitochondrial DNA in Humans

(2018) Shiyu Luo et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Investigating mitonuclear interactions in human admixed populations

(2018) Arslan A. Zaidi et al.   Nature Ecology & Evolution

DNA polymerases in the mitochondria A critical review of the evidence

(2017) William C Copeland   Frontiers in Bioscience-Landmark

Heteroplasmic shifts in tumor mitochondrial genomes reveal tissue-specific signals of relaxed and positive selection

(2017) Sneha Grandhi et al.   HUMAN MOLECULAR GENETICS

DNA Methyltransferase1 (DNMT1) Isoform3 methylates mitochondrial genome and modulates its biology

(2017) Sunil Kumar Saini et al.   Scientific Reports

Background sequence characteristics influence the occurrence and severity of disease-causing mtDNA mutations

(2017) Wei Wei et al.   PLoS Genetics

Evidence Suggesting Absence of Mitochondrial DNA Methylation

(2017) Mie Mechta et al.   Frontiers in Genetics

Mother’s curse neutralizes natural selection against a human genetic disease over three centuries

(2017) Emmanuel Milot et al.   Nature Ecology & Evolution

Experimental mitochondria-targeted DNA methylation identifies GpC methylation, not CpG methylation, as potential regulator of mitochondrial gene expression

(2017) Monique G. P. van der Wijst et al.   Scientific Reports

The ability of human nuclear DNA to cause false positive low-abundance heteroplasmy calls varies across the mitochondrial genome

(2016) Levent Albayrak et al.   BMC GENOMICS

Homeostatic Responses Regulate Selfish Mitochondrial Genome Dynamics in C. elegans

(2016) Bryan L. Gitschlag et al.   Cell Metabolism

Transmission of human mtDNA heteroplasmy in the Genome of the Netherlands families: support for a variable-size bottleneck

(2016) Mingkun Li et al.   GENOME RESEARCH

Mitochondrial DNA sequence characteristics modulate the size of the genetic bottleneck

(2016) Ian J. Wilson et al.   HUMAN MOLECULAR GENETICS

Septic patients with mitochondrial DNA haplogroup JT have higher respiratory complex IV activity and survival rate

(2016) Leonardo Lorente et al.   JOURNAL OF CRITICAL CARE

Genetics: Mitochondrial DNA in evolution and disease

(2016) Douglas C. Wallace   NATURE

Towards clinical application of pronuclear transfer to prevent mitochondrial DNA disease

(2016) Louise A. Hyslop et al.   NATURE

Mitochondrial replacement in human oocytes carrying pathogenic mitochondrial DNA mutations

(2016) Eunju Kang et al.   NATURE

Mitochondrial and nuclear DNA matching shapes metabolism and healthy ageing

(2016) Ana Latorre-Pellicer et al.   NATURE

Maintenance and propagation of a deleterious mitochondrial genome by the mitochondrial unfolded protein response

(2016) Yi-Fan Lin et al.   NATURE

Selfish drive can trump function when animal mitochondrial genomes compete

(2016) Hansong Ma et al.   NATURE GENETICS

Differences in Strength and Timing of the mtDNA Bottleneck between Zebrafish Germline and Non-germline Cells

(2016) Auke B.C. Otten et al.   Cell Reports

A Phenotype-Driven Approach to Generate Mouse Models with Pathogenic mtDNA Mutations Causing Mitochondrial Disease

(2016) Johanna H.K. Kauppila et al.   Cell Reports

Transmission from centenarians to their offspring of mtDNA heteroplasmy revealed by ultra-deep sequencing

(2016) Cristina Giuliani et al.   Aging-US

Prevalence of nuclear and mitochondrial DNA mutations related to adult mitochondrial disease

(2015) Gráinne S. Gorman et al.   ANNALS OF NEUROLOGY

Mitochondrial DNA Variation in Human Radiation and Disease

(2015) Douglas C. Wallace   CELL

Evolution of Mitochondria as Signaling Organelles

(2015) Navdeep S. Chandel   Cell Metabolism

Genetic Control over mtDNA and Its Relationship to Major Depressive Disorder

(2015) Na Cai et al.   CURRENT BIOLOGY

Selfish Mitochondrial DNA Proliferates and Diversifies in Small, but not Large, Experimental Populations ofCaenorhabditis briggsae

(2015) Wendy S. Phillips et al.   Genome Biology and Evolution

The dynamics of mitochondrial DNA heteroplasmy: implications for human health and disease

(2015) James B. Stewart et al.   NATURE REVIEWS GENETICS

MitoCarta2.0: an updated inventory of mammalian mitochondrial proteins

(2015) Sarah E. Calvo et al.   NUCLEIC ACIDS RESEARCH

Cross-strand binding of TFAM to a single mtDNA molecule forms the mitochondrial nucleoid

(2015) Christian Kukat et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Extensive tissue-related and allele-related mtDNA heteroplasmy suggests positive selection for somatic mutations

(2015) Mingkun Li et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Mosaic nature of the mitochondrial proteome: Implications for the origin and evolution of mitochondria

(2015) Michael W. Gray   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Simultaneous DNA and RNA Mapping of Somatic Mitochondrial Mutations across Diverse Human Cancers

(2015) James B. Stewart et al.   PLoS Genetics

Stochastic modelling, Bayesian inference, and new in vivo measurements elucidate the debated mtDNA bottleneck mechanism

(2015) Iain G Johnston et al.   eLife

POLRMT does not transcribe nuclear genes

(2014) Inge Kühl et al.   NATURE

Detecting ultralow-frequency mutations by Duplex Sequencing

(2014) Scott R Kennedy et al.   Nature Protocols

The genomic landscape of polymorphic human nuclear mitochondrial insertions

(2014) Gargi Dayama et al.   NUCLEIC ACIDS RESEARCH

The Inversion of the Control Region in Three Mitogenomes Provides Further Evidence for an Asymmetric Model of Vertebrate mtDNA Replication

(2014) Miguel M. Fonseca et al.   PLoS One

Questioning the prevalence and reliability of human mitochondrial DNA heteroplasmy from massively parallel sequencing data

(2014) R. S. Just et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

mtDNA Segregation in Heteroplasmic Tissues Is Common In Vivo and Modulated by Haplotype Differences and Developmental Stage

(2014) Joerg Patrick Burgstaller et al.   Cell Reports

Recent Mitochondrial DNA Mutations Increase the Risk of Developing Common Late-Onset Human Diseases

(2014) Gavin Hudson et al.   PLoS Genetics

Origins and functional consequences of somatic mitochondrial DNA mutations in human cancer

(2014) Young Seok Ju et al.   eLife

Germline mitochondrial DNA mutations aggravate ageing and can impair brain development

(2013) Jaime M. Ross et al.   NATURE

Signatures of mutational processes in human cancer

(2013) Ludmil B. Alexandrov et al.   NATURE

Two-stage association study and meta-analysis of mitochondrial DNA variants in Parkinson disease

(2013) G. Hudson et al.   NEUROLOGY

Mitochondrial DNA replication proceeds via a ‘bootlace’ mechanism involving the incorporation of processed transcripts

(2013) Aurelio Reyes et al.   NUCLEIC ACIDS RESEARCH

Ultra-Sensitive Sequencing Reveals an Age-Related Increase in Somatic Mitochondrial Mutations That Are Inconsistent with Oxidative Damage

(2013) Scott R. Kennedy et al.   PLoS Genetics

Recurrent Tissue-Specific mtDNA Mutations Are Common in Humans

(2013) David C. Samuels et al.   PLoS Genetics

Oxidative phosphorylation differences between mitochondrial DNA haplogroups modify the risk of Leber's hereditary optic neuropathy

(2012) Aurora Gómez-Durán et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Heteroplasmy of Mouse mtDNA Is Genetically Unstable and Results in Altered Behavior and Cognition

(2012) Mark S. Sharpley et al.   CELL

Mitochondria, Maternal Inheritance, and Male Aging

(2012) M. Florencia Camus et al.   CURRENT BIOLOGY

Universal heteroplasmy of human mitochondrial DNA

(2012) B. A. I. Payne et al.   HUMAN MOLECULAR GENETICS

PGD and heteroplasmic mitochondrial DNA point mutations: a systematic review estimating the chance of healthy offspring

(2012) D.M.E.I. Hellebrekers et al.   HUMAN REPRODUCTION UPDATE

Nuclear genome transfer in human oocytes eliminates mitochondrial DNA variants

(2012) Daniel Paull et al.   NATURE

Variation in germline mtDNA heteroplasmy is determined prenatally but modified during subsequent transmission

(2012) Christoph Freyer et al.   NATURE GENETICS

Fidelity of capture-enrichment for mtDNA genome sequencing: influence of NUMTs

(2012) Mingkun Li et al.   NUCLEIC ACIDS RESEARCH

Detection of ultra-rare mutations by next-generation sequencing

(2012) M. W. Schmitt et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Mitochondrial DNA variant associated with Leber hereditary optic neuropathy and high-altitude Tibetans

(2012) F. Ji et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Human Mitochondrial DNA Replication

(2012) I. J. Holt et al.   Cold Spring Harbor Perspectives in Biology

Rapid Mitochondrial DNA Segregation in Primate Preimplantation Embryos Precedes Somatic and Germline Bottleneck

(2012) Hyo-Sang Lee et al.   Cell Reports

Mitochondrial DNA nucleoid structure

(2011) Daniel F. Bogenhagen   Biochimica et Biophysica Acta-Gene Regulatory Mechanisms

Mitochondrial aging is accelerated by anti-retroviral therapy through the clonal expansion of mtDNA mutations

(2011) Brendan A I Payne et al.   NATURE GENETICS

Experimental Evidence Supports a Sex-Specific Selective Sieve in Mitochondrial Genome Evolution

(2011) P. Innocenti et al.   SCIENCE

Ultra-Deep Sequencing of Mouse Mitochondrial DNA: Mutational Patterns and Their Origins

(2011) Adam Ameur et al.   PLoS Genetics

Detecting Heteroplasmy from High-Throughput Sequencing of Complete Human Mitochondrial DNA Genomes

(2010) Mingkun Li et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The Mitochondrial Proteome and Human Disease

(2010) Sarah E. Calvo et al.   Annual Review of Genomics and Human Genetics

Unmasking the causes of multifactorial disorders: OXPHOS differences between mitochondrial haplogroups

(2010) Aurora Gómez-Durán et al.   HUMAN MOLECULAR GENETICS

Mitochondrial DNA haplogroups and risk of transient ischaemic attack and ischaemic stroke: a genetic association study

(2010) Patrick F Chinnery et al.   LANCET NEUROLOGY

Preventing the pollution of mitochondrial datasets with nuclear mitochondrial paralogs (numts)

(2010) Sébastien Calvignac et al.   MITOCHONDRION

Heteroplasmic mitochondrial DNA mutations in normal and tumour cells

(2010) Yiping He et al.   NATURE

Gimap3 Regulates Tissue-Specific Mitochondrial DNA Segregation

(2010) Riikka Jokinen et al.   PLoS Genetics

Molecular Poltergeists: Mitochondrial DNA Copies (numts) in Sequenced Nuclear Genomes

(2010) Einat Hazkani-Covo et al.   PLoS Genetics

Mitochondrial DNA haplogroup R predicts survival advantage in severe sepsis in the Han population

(2009) Yi Yang et al.   GENETICS IN MEDICINE

In vivo methylation of mtDNA reveals the dynamics of protein–mtDNA interactions

(2009) Adriana P. Rebelo et al.   NUCLEIC ACIDS RESEARCH

Relaxed selection in the wild

(2009) David C. Lahti et al.   TRENDS IN ECOLOGY & EVOLUTION

Cytonuclear Genic Incompatibilities Cause Increased Mortality in Male F 2 Hybrids of Nasonia giraulti and N. vitripennis

(2008) Oliver Niehuis et al.   GENETICS

Updated comprehensive phylogenetic tree of global human mitochondrial DNA variation

(2008) Mannis van Oven et al.   HUMAN MUTATION

Parkin is recruited selectively to impaired mitochondria and promotes their autophagy

(2008) Derek Narendra et al.   JOURNAL OF CELL BIOLOGY

Hybrid breakdown and mitochondrial dysfunction in hybrids of Nasonia parasitoid wasps

(2008) C. K. ELLISON et al.   JOURNAL OF EVOLUTIONARY BIOLOGY

The mitochondrial DNA genetic bottleneck results from replication of a subpopulation of genomes

(2008) Timothy Wai et al.   NATURE GENETICS

A reduction of mitochondrial DNA molecules during embryogenesis explains the rapid segregation of genotypes

(2008) Lynsey M Cree et al.   NATURE GENETICS

A Mouse Model of Mitochondrial Disease Reveals Germline Selection Against Severe mtDNA Mutations

(2008) Weiwei Fan et al.   SCIENCE

Strong Purifying Selection in Transmission of Mammalian Mitochondrial DNA

(2008) James Bruce Stewart et al.   PLOS BIOLOGY