Whole genome sequencing and mutation rate analysis of trios with paternal dioxin exposure
Sign Up to like & getrecommendations! Published in 2018 at "Human Mutation"
DOI: 10.1002/humu.23585
Abstract: 2,3,7,8‐Tetrachlorodibenzo‐p‐dioxin (TCDD) or dioxin, is commonly considered the most toxic man‐made substance. Dioxin exposure impacts human health and diseases, birth defects and teratogenesis were frequently observed in children of persons who have been exposed to… read more here.
Keywords: whole genome; dioxin; dioxin exposure; mutation rate ... See more keywords
Toward a Unique Definition of the Mutation Rate
Sign Up to like & getrecommendations! Published in 2017 at "Bulletin of Mathematical Biology"
DOI: 10.1007/s11538-017-0247-8
Abstract: In around 1943, while writing a classic paper with Luria, Delbrück envisioned two kinds of mutation rates: One was expressed as mutations per bacterium per unit time, the other as mutations per bacterium per division… read more here.
Keywords: definition mutation; mutation rates; mutation; mutation rate ... See more keywords
The Mutation Rate and the Age of the Sex Chromosomes in Silene latifolia
Sign Up to like & getrecommendations! Published in 2018 at "Current Biology"
DOI: 10.1016/j.cub.2018.04.069
Abstract: Many aspects of sex chromosome evolution are common to both plants and animals [1], but the process of Y chromosome degeneration, where genes on the Y become non-functional over time, may be much slower in… read more here.
Keywords: sex chromosomes; age; age sex; mutation rate ... See more keywords
Forensic parameters and mutation analysis of 23 short tandem repeat (PowerPlex® Fusion System) loci in Fujian Han Chinese population.
Sign Up to like & getrecommendations! Published in 2019 at "Legal medicine"
DOI: 10.1016/j.legalmed.2019.01.005
Abstract: Kinship testing based on genetic markers has valuable practical applications. Short tandem repeat polymorphisms (STRPs) can have large number of alleles, and become the dominant marker for kinship identification. However, the high mutation rates affect… read more here.
Keywords: short tandem; tandem repeat; mutation; mutation rate ... See more keywords
Pedigree-based and phylogenetic methods support surprising patterns of mutation rate and spectrum in the gray mouse lemur.
Sign Up to like & getrecommendations! Published in 2021 at "Heredity"
DOI: 10.1038/s41437-021-00446-5
Abstract: Mutations are the raw material on which evolution acts, and knowledge of their frequency and genomic distribution is crucial for understanding how evolution operates at both long and short timescales. At present, the rate and… read more here.
Keywords: rate spectrum; mutation rate; gray mouse; rate ... See more keywords
Sexual recombination and increased mutation rate expedite evolution of Escherichia coli in varied fitness landscapes
Sign Up to like & getrecommendations! Published in 2017 at "Nature Communications"
DOI: 10.1038/s41467-017-02323-4
Abstract: Sexual recombination and mutation rate are theorized to play different roles in adaptive evolution depending on the fitness landscape; however, direct experimental support is limited. Here we examine how these factors affect the rate of… read more here.
Keywords: sexual recombination; evolution; mutation rate; rate ... See more keywords
Metastatic adrenocortical carcinoma displays higher mutation rate and tumor heterogeneity than primary tumors
Sign Up to like & getrecommendations! Published in 2018 at "Nature Communications"
DOI: 10.1038/s41467-018-06366-z
Abstract: Adrenocortical cancer (ACC) is a rare cancer with poor prognosis and high mortality due to metastatic disease. All reported genetic alterations have been in primary ACC, and it is unknown if there is molecular heterogeneity… read more here.
Keywords: heterogeneity; mutation rate; higher mutation; tumor heterogeneity ... See more keywords
Ethanol exposure increases mutation rate through error-prone polymerases
Sign Up to like & getrecommendations! Published in 2020 at "Nature Communications"
DOI: 10.1038/s41467-020-17447-3
Abstract: Ethanol is a ubiquitous environmental stressor that is toxic to all lifeforms. Here, we use the model eukaryote Saccharomyces cerevisiae to show that exposure to sublethal ethanol concentrations causes DNA replication stress and an increased… read more here.
Keywords: prone polymerases; exposure; mutation rate; ethanol ... See more keywords
Multiplexing Mutation Rate Assessment: Determining Pathogenicity of Msh2 Variants in S. cerevisiae.
Sign Up to like & getrecommendations! Published in 2021 at "Genetics"
DOI: 10.1093/genetics/iyab058
Abstract: Despite the fundamental importance of mutation rate as a driving force in evolution and disease risk, common methods to assay mutation rate are time consuming and tedious. Established methods such as fluctuation tests and mutation… read more here.
Keywords: msh2 variants; pathogenicity; mutation; mutation rate ... See more keywords
Studying mutation rate evolution in primates—a need for systematic comparison of computational pipelines
Sign Up to like & getrecommendations! Published in 2021 at "GigaScience"
DOI: 10.1093/gigascience/giab072
Abstract: Abstract The lack of consensus methods to estimate germline mutation rates from pedigrees has led to substantial differences in computational pipelines in the published literature. Here, we answer Susanne Pfeifer's opinion piece discussing the pipeline… read more here.
Keywords: mutation; studying mutation; mutation rate; computational pipelines ... See more keywords
De Novo Mutation Rate Variation and Its Determinants in Chlamydomonas
Sign Up to like & getrecommendations! Published in 2021 at "Molecular Biology and Evolution"
DOI: 10.1093/molbev/msab140
Abstract: Abstract De novo mutations are central for evolution, since they provide the raw material for natural selection by regenerating genetic variation. However, studying de novo mutations is challenging and is generally restricted to model species,… read more here.
Keywords: rate variation; novo mutation; mutation rate; rate ... See more keywords