Age-related accumulation of de novo mitochondrial mutations in mammalian oocytes and somatic tissues

Voluntary wheel running has no impact on brain and liver mitochondrial DNA copy number or mutation measures in the PolG mouse model of aging

(2020) Kendra D. Maclaine et al.   PLoS One

De novo mutations across 1,465 diverse genomes reveal mutational insights and reductions in the Amish founder population

(2020) Michael D. Kessler et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Absence of mitochondrial DNA methylation in mouse oocyte maturation, aging and early embryo development

(2019) Li-Hua Fan et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Human mitochondrial DNA is extensively methylated in a non-CpG context

(2019) Vibha Patil et al.   NUCLEIC ACIDS RESEARCH

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

Similarities and differences in patterns of germline mutation between mice and humans

(2019) Sarah J. Lindsay et al.   Nature Communications

Oxidative damage diminishes mitochondrial DNA polymerase replication fidelity

(2019) Andrew P Anderson et al.   NUCLEIC ACIDS RESEARCH

Quack: A quality assurance tool for high throughput sequence data

(2018) Adam Thrash et al.   ANALYTICAL BIOCHEMISTRY

The mitochondrial DNA genetic bottleneck: inheritance and beyond

(2018) Haixin Zhang et al.   Essays in Biochemistry

Mitochondrial DNA replication in mammalian cells: overview of the pathway

(2018) Maria Falkenberg   Essays in Biochemistry

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

The Galaxy platform for accessible, reproducible and collaborative biomedical analyses: 2018 update

(2018) Enis Afgan et al.   NUCLEIC ACIDS RESEARCH

Large-scale genetic analysis reveals mammalian mtDNA heteroplasmy dynamics and variance increase through lifetimes and generations

(2018) Joerg P. Burgstaller et al.   Nature Communications

Random Mutagenesis, Clonal Events, and Embryonic or Somatic Origin Determine the mtDNA Variant Type and Load in Human Pluripotent Stem Cells

(2018) Filippo Zambelli et al.   Stem Cell Reports

Germline and somatic mtDNA mutations in mouse aging

(2018) Hong Ma et al.   PLoS One

Old Trade, New Tricks: Insights into the Spontaneous Mutation Process from the Partnering of Classical Mutation Accumulation Experiments with High-Throughput Genomic Approaches

(2018) Vaishali Katju et al.   Genome Biology and Evolution

Deep sequencing shows that oocytes are not prone to accumulate mtDNA heteroplasmic mutations during ovarian ageing

(2017) L. Boucret et al.   HUMAN REPRODUCTION

Parental influence on human germline de novo mutations in 1,548 trios from Iceland

(2017) Hákon Jónsson et al.   NATURE

Pervasive within-Mitochondrion Single-Nucleotide Variant Heteroplasmy as Revealed by Single-Mitochondrion Sequencing

(2017) Jacqueline Morris et al.   Cell Reports

Evidence Suggesting Absence of Mitochondrial DNA Methylation

(2017) Mie Mechta et al.   Frontiers in Genetics

Mitochondrial DNA mutations increase in early stage Alzheimer disease and are inconsistent with oxidative damage

(2016) Jake G. Hoekstra et al.   ANNALS OF NEUROLOGY

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

Rates and mechanisms of bacterial mutagenesis from maximum-depth sequencing

(2016) Justin Jee et al.   NATURE

Parent-of-origin-specific signatures of de novo mutations

(2016) Jakob M Goldmann et al.   NATURE GENETICS

Mouse oocytes differentiate through organelle enrichment from sister cyst germ cells

(2016) L. Lei et al.   SCIENCE

New observations on maternal age effect on germline de novo mutations

(2016) Wendy S. W. Wong et al.   Nature Communications

CpG methylation patterns of human mitochondrial DNA

(2016) Baojing Liu et al.   Scientific Reports

AMPK Activation of Muscle Autophagy Prevents Fasting-Induced Hypoglycemia and Myopathy during Aging

(2015) Adam L. Bujak et al.   Cell Metabolism

Germline mutation rates and the long-term phenotypic effects of mutation accumulation in wild-type laboratory mice and mutator mice

(2015) Arikuni Uchimura et al.   GENOME RESEARCH

An efficient and scalable analysis framework for variant extraction and refinement from population-scale DNA sequence data

(2015) Goo Jun et al.   GENOME RESEARCH

Timing, rates and spectra of human germline mutation

(2015) Raheleh Rahbari et al.   NATURE GENETICS

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

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

Stable heteroplasmy at the single-cell level is facilitated by intercellular exchange of mtDNA

(2015) Anitha D. Jayaprakash et al.   NUCLEIC ACIDS RESEARCH

Detection of Ultra-Rare Mitochondrial Mutations in Breast Stem Cells by Duplex Sequencing

(2015) Eun Hyun Ahn et al.   PLoS One

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

Trimmomatic: a flexible trimmer for Illumina sequence data

(2014) Anthony M. Bolger et al.   BIOINFORMATICS

Inosine in DNA and RNA

(2014) Ingrun Alseth et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

Similar patterns of clonally expanded somatic mtDNA mutations in the colon of heterozygous mtDNA mutator mice and ageing humans

(2014) Holly L. Baines et al.   MECHANISMS OF AGEING AND DEVELOPMENT

Detecting ultralow-frequency mutations by Duplex Sequencing

(2014) Scott R Kennedy et al.   Nature Protocols

Mitogenomes of Polar Bodies and Corresponding Oocytes

(2014) Luca Gianoarli et al.   PLoS One

Maternal age effect and severe germ-line bottleneck in the inheritance of human mitochondrial DNA

(2014) B. Rebolledo-Jaramillo et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Oxidative Stress Is Not a Major Contributor to Somatic Mitochondrial DNA Mutations

(2014) Leslie S. Itsara et al.   PLoS Genetics

Clonal Expansion of Early to Mid-Life Mitochondrial DNA Point Mutations Drives Mitochondrial Dysfunction during Human Ageing

(2014) Laura C. Greaves et al.   PLoS Genetics

Dissemination of scientific software with Galaxy ToolShed

(2014) Daniel Blankenberg et al.   GENOME BIOLOGY

The Control Region of Mitochondrial DNA Shows an Unusual CpG and Non-CpG Methylation Pattern

(2013) D. Bellizzi et al.   DNA RESEARCH

Germline mitochondrial DNA mutations aggravate ageing and can impair brain development

(2013) Jaime M. Ross et al.   NATURE

Mitochondrial DNA Genetics and the Heteroplasmy Conundrum in Evolution and Disease

(2013) D. C. Wallace et al.   Cold Spring Harbor Perspectives in Biology

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

Somatic mtDNA Mutation Spectra in the Aging Human Putamen

(2013) Siôn L. Williams et al.   PLoS Genetics

Mitochondrial DNA Damage Patterns and Aging: Revising the Evidences for Humans and Mice

(2013) Nadiya Kazachkova   Aging and Disease

Primates and mouse NumtS in the UCSC Genome Browser

(2012) Francesco Maria Calabrese et al.   BMC BIOINFORMATICS

Rate of de novo mutations and the importance of father’s age to disease risk

(2012) Augustine Kong et al.   NATURE

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

(2012) Christoph Freyer et al.   NATURE GENETICS

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

A general and simple method for obtainingR2from generalized linear mixed-effects models

(2012) Shinichi Nakagawa et al.   Methods in Ecology and Evolution

Poor Correlations in the Levels of Pathogenic Mitochondrial DNA Mutations in Polar Bodies versus Oocytes and Blastomeres in Humans

(2011) Nadine Gigarel et al.   AMERICAN JOURNAL OF HUMAN GENETICS

BamTools: a C++ API and toolkit for analyzing and managing BAM files

(2011) D. W. Barnett et al.   BIOINFORMATICS

Variation in genome-wide mutation rates within and between human families

(2011) Donald F Conrad et al.   NATURE GENETICS

Variation in the mutation rate across mammalian genomes

(2011) Alan Hodgkinson et al.   NATURE REVIEWS GENETICS

Super-resolution microscopy reveals that mammalian mitochondrial nucleoids have a uniform size and frequently contain a single copy of mtDNA

(2011) C. Kukat et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

(2011) Adam Ameur et al.   PLoS Genetics

Segregation of mtDNA throughout human embryofetal development: m.3243A>G as a model system

(2010) Sophie Monnot et al.   HUMAN MUTATION

Evolution of the mutation rate

(2010) Michael Lynch   TRENDS IN GENETICS

Transmission of Mitochondrial DNA Diseases and Ways to Prevent Them

(2010) Joanna Poulton et al.   PLoS Genetics

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

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

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

Modelling mitochondrial site polymorphisms to infer the number of segregating units and mutation rate

(2009) M. D. Hendy et al.   Biology Letters

Random Point Mutations with Major Effects on Protein-Coding Genes Are the Driving Force behind Premature Aging in mtDNA Mutator Mice

(2009) Daniel Edgar et al.   Cell Metabolism

Long Patch Base Excision Repair in Mammalian Mitochondrial Genomes

(2008) Bartosz Szczesny et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Mutation and Evolutionary Rates in Adélie Penguins from the Antarctic

(2008) Craig D. Millar et al.   PLoS Genetics