Relationships among smoking, oxidative stress, inflammation, macromolecular damage, and cancer

AW Caliri, S Tommasi, A Besaratinia - Mutation Research/Reviews in …, 2021 - Elsevier
Smoking is a major risk factor for a variety of diseases, including cancer and immune-
mediated inflammatory diseases. Tobacco smoke contains a mixture of chemicals, including …

Epigenetics of male infertility: the role of DNA methylation

JC Rotondo, C Lanzillotti, C Mazziotta… - Frontiers in Cell and …, 2021 - frontiersin.org
In recent years, a number of studies focused on the role of epigenetics, including DNA
methylation, in spermatogenesis and male infertility. We aimed to provide an overview of the …

Evolution of the germline mutation rate across vertebrates

LA Bergeron, S Besenbacher, J Zheng, P Li… - Nature, 2023 - nature.com
The germline mutation rate determines the pace of genome evolution and is an evolving
parameter itself. However, little is known about what determines its evolution, as most …

Increased mutation and gene conversion within human segmental duplications

MR Vollger, PC Dishuck, WT Harvey, WS DeWitt… - Nature, 2023 - nature.com
Single-nucleotide variants (SNVs) in segmental duplications (SDs) have not been
systematically assessed because of the limitations of map** short-read sequencing data …

Differences between germline genomes of monozygotic twins

H Jonsson, E Magnusdottir, HP Eggertsson… - Nature Genetics, 2021 - nature.com
Despite the important role that monozygotic twins have played in genetics research, little is
known about their genomic differences. Here we show that monozygotic twins differ on …

Genetic and chemotherapeutic influences on germline hypermutation

J Kaplanis, B Ide, R Sanghvi, M Neville, P Danecek… - Nature, 2022 - nature.com
Mutations in the germline generates all evolutionary genetic variation and is a cause of
genetic disease. Parental age is the primary determinant of the number of new germline …

Meiotic DNA breaks drive multifaceted mutagenesis in the human germ line

R Hinch, P Donnelly, AG Hinch - Science, 2023 - science.org
Meiotic recombination commences with hundreds of programmed DNA breaks; however, the
degree to which they are accurately repaired remains poorly understood. We report that …

Lack of transgenerational effects of ionizing radiation exposure from the Chernobyl accident

M Yeager, MJ Machiela, P Kothiyal, M Dean… - Science, 2021 - science.org
Effects of radiation exposure from the Chernobyl nuclear accident remain a topic of interest.
We investigated germline de novo mutations (DNMs) in children born to parents employed …

Genetic correlates of phenotypic heterogeneity in autism

V Warrier, X Zhang, P Reed, A Havdahl, TM Moore… - Nature Genetics, 2022 - nature.com
The substantial phenotypic heterogeneity in autism limits our understanding of its genetic
etiology. To address this gap, here we investigated genetic differences between autistic …

Large, three-generation human families reveal post-zygotic mosaicism and variability in germline mutation accumulation

TA Sasani, BS Pedersen, Z Gao, L Baird, M Przeworski… - Elife, 2019 - elifesciences.org
The number of de novo mutations (DNMs) found in an offspring's genome increases with
both paternal and maternal age. But does the rate of mutation accumulation in human …