Relationships among smoking, oxidative stress, inflammation, macromolecular damage, and cancer
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 …
mediated inflammatory diseases. Tobacco smoke contains a mixture of chemicals, including …
Epigenetics of male infertility: the role of DNA methylation
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 …
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 …
parameter itself. However, little is known about what determines its evolution, as most …
Increased mutation and gene conversion within human segmental duplications
Single-nucleotide variants (SNVs) in segmental duplications (SDs) have not been
systematically assessed because of the limitations of map** short-read sequencing data …
systematically assessed because of the limitations of map** short-read sequencing data …
Differences between germline genomes of monozygotic twins
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 …
known about their genomic differences. Here we show that monozygotic twins differ on …
Genetic and chemotherapeutic influences on germline hypermutation
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 …
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 …
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
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 …
We investigated germline de novo mutations (DNMs) in children born to parents employed …
Genetic correlates of phenotypic heterogeneity in autism
The substantial phenotypic heterogeneity in autism limits our understanding of its genetic
etiology. To address this gap, here we investigated genetic differences between autistic …
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
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 …
both paternal and maternal age. But does the rate of mutation accumulation in human …