Extreme heterogeneity of human mitochondrial DNA from organelles to populations

JB Stewart, PF Chinnery - Nature Reviews Genetics, 2021 - nature.com
Contrary to the long-held view that most humans harbour only identical mitochondrial
genomes, deep resequencing has uncovered unanticipated extreme genetic variation within …

Minimizing the damage: repair pathways keep mitochondrial DNA intact

L Kazak, A Reyes, IJ Holt - Nature reviews Molecular cell biology, 2012 - nature.com
Mitochondrial DNA (mtDNA) faces the universal challenges of genome maintenance: the
accurate replication, transmission and preservation of its integrity throughout the life of the …

ATR protects the genome against R loops through a MUS81-triggered feedback loop

DA Matos, JM Zhang, J Ouyang, HD Nguyen… - Molecular cell, 2020 - cell.com
R loops arising during transcription induce genomic instability, but how cells respond to the
R loop-associated genomic stress is still poorly understood. Here, we show that cells …

Genetic aspects of mitochondrial genome evolution

M Bernt, A Braband, B Schierwater… - Molecular phylogenetics …, 2013 - Elsevier
Many years of extensive studies of metazoan mitochondrial genomes have established
differences in gene arrangements and genetic codes as valuable phylogenetic markers …

Human mitochondrial DNA replication

IJ Holt, A Reyes - Cold Spring Harbor perspectives in …, 2012 - cshperspectives.cshlp.org
Elucidation of the process of DNA replication in mitochondria is in its infancy. For many
years, maintenance of the mitochondrial genome was regarded as greatly simplified …

Replication of vertebrate mitochondrial DNA entails transient ribonucleotide incorporation throughout the lagging strand

T Yasukawa, A Reyes, TJ Cluett, MY Yang… - The EMBO …, 2006 - embopress.org
Using two‐dimensional agarose gel electrophoresis, we show that mitochondrial DNA
(mtDNA) replication of birds and mammals frequently entails r ibonucleotide i ncorporation t …

An overview of mammalian mitochondrial DNA replication mechanisms

T Yasukawa, D Kang - The Journal of Biochemistry, 2018 - academic.oup.com
While the majority of DNA is enclosed within the nucleus, the mitochondria also contain their
own, separate DNA, the mitochondrial DNA (mtDNA). Mutations in mtDNA are associated …

Replication of mitochondrial DNA occurs by strand displacement with alternative light-strand origins, not via a strand-coupled mechanism

TA Brown, C Cecconi, AN Tkachuk… - Genes & …, 2005 - genesdev.cshlp.org
The established strand-displacement model for mammalian mitochondrial DNA (mtDNA)
replication has recently been questioned in light of new data using two-dimensional (2D) …

[HTML][HTML] Cause or casualty: The role of mitochondrial DNA in aging and age-associated disease

ES Chocron, E Munkácsy, AM Pickering - Biochimica et Biophysica Acta …, 2019 - Elsevier
The mitochondrial genome (mtDNA) represents a tiny fraction of the whole genome,
comprising just 16.6 kilobases encoding 37 genes involved in oxidative phosphorylation …

A replication-linked mutational gradient drives somatic mutation accumulation and influences germline polymorphisms and genome composition in mitochondrial DNA

M Sanchez-Contreras, MT Sweetwyne… - Nucleic Acids …, 2021 - academic.oup.com
Mutations in mitochondrial DNA (mtDNA) cause maternally inherited diseases, while
somatic mutations are linked to common diseases of aging. Although mtDNA mutations …