The impact of DNA methylation dynamics on the mutation rate during human germline development

Y Zhou, F He, W Pu, X Gu, J Wang… - G3: Genes, Genomes …, 2020 - academic.oup.com
DNA methylation is a dynamic epigenetic modification found in most eukaryotic genomes. It
is known to lead to a high CpG to TpG mutation rate. However, the relationship between the …

Investigating the relationship of DNA methylation with mutation rate and allele frequency in the human genome

J Xia, L Han, Z Zhao - BMC genomics, 2012 - Springer
Background DNA methylation, which mainly occurs at CpG dinucleotides, is a dynamic
epigenetic regulation mechanism in most eukaryotic genomes. It is already known that …

Substitution rate variation at human CpG sites correlates with non-CpG divergence, methylation level and GC content

CF Mugal, H Ellegren - Genome biology, 2011 - Springer
Background A major goal in the study of molecular evolution is to unravel the mechanisms
that induce variation in the germ line mutation rate and in the genome-wide mutation profile …

Extensive sequence-influenced DNA methylation polymorphism in the human genome

A Hellman, A Chess - Epigenetics & chromatin, 2010 - Springer
Background Epigenetic polymorphisms are a potential source of human diversity, but their
frequency and relationship to genetic polymorphisms are unclear. DNA methylation, an …

Environmental impact on DNA methylation in the germline: state of the art and gaps of knowledge

F Pacchierotti, M Spanò - BioMed research international, 2015 - Wiley Online Library
The epigenome consists of chemical changes in DNA and chromatin that without modifying
the DNA sequence modulate gene expression and cellular phenotype. The epigenome is …

DNA methylation analysis of germ cells by using bisulfite-based sequencing methods

H Kobayashi, T Kono - Germline Development: Methods and Protocols, 2012 - Springer
Dynamic changes in DNA methylation at the gene-specific and genome-wide level occur
during mammalian germ-cell development. However, the details of how the methylation …

Genome-wide survey reveals dynamic widespread tissue-specific changes in DNA methylation during development

P Liang, F Song, S Ghosh, E Morien, M Qin… - BMC genomics, 2011 - Springer
Background Changes in DNA methylation in the mammalian genome during development
are frequent events and play major roles regulating gene expression and other …

HapMap methylation-associated SNPs, markers of germline DNA methylation, positively correlate with regional levels of human meiotic recombination

MI Sigurdsson, AV Smith, HT Bjornsson… - Genome …, 2009 - genome.cshlp.org
Inter-individual and regional variability in recombination rates cannot be fully explained by
the DNA sequence itself. Epigenetic mechanisms might be one additional factor affecting …

Distribution, silencing potential and evolutionary impact of promoter DNA methylation in the human genome

M Weber, I Hellmann, MB Stadler, L Ramos, S Pääbo… - Nature …, 2007 - nature.com
To gain insight into the function of DNA methylation at cis-regulatory regions and its impact
on gene expression, we measured methylation, RNA polymerase occupancy and histone …

Mapping of variable DNA methylation across multiple cell types defines a dynamic regulatory landscape of the human genome

J Gu, M Stevens, X Xing, D Li, B Zhang… - G3: Genes …, 2016 - academic.oup.com
DNA methylation is an important epigenetic modification involved in many biological
processes and diseases. Many studies have mapped DNA methylation changes associated …