ArticleNucleic acids research2015
The interplay between DNA methylation and sequence divergence in recent human evolution.
Article in Nucleic acids research, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 40 papers.
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Who cites it
40 citing papers in PubMed.
- High levels of circulating folate concentrations are associated with DNA methylation of tumor suppressor and repair genesClinical epigenetics · 2017Trial
- The Spectrum of CHM Gene Mutations in Choroideremia and Their Relationship to Clinical Phenotype.Investigative ophthalmology & visual science · 2016Trial
- Genetic Architecture of Immune Cell DNA Methylation in the Rhesus Macaque.Molecular ecology · 2025Article
- Regulatory and evolutionary impact of DNA methylation in two songbird species and their naturally occurring FBMC biology · 2024Article
- DNA methylation and transcriptome analysis reveal epigenomic differences among three macaque species.Evolutionary applications · 2024Article
- Evaluating the Performance of Widely Used Phylogenetic Models for Gene Expression Evolution.Genome biology and evolution · 2023Article
- The relationship between regulatory changes in cis and trans and the evolution of gene expression in humans and chimpanzees.Genome biology · 2023Article
- Evaluating the Performance of Widely Used Phylogenetic Models for Gene Expression Evolution.bioRxiv : the preprint server for biology · 2023Article
- Comparative analysis reveals epigenomic evolution related to species traits and genomic imprinting in mammals.Innovation (Cambridge (Mass.)) · 2023Article
- Current advances in primate genomics: novel approaches for understanding evolution and disease.Nature reviews. Genetics · 2023Review
- Epigenomic reprogramming in iAs-mediated carcinogenesis.Advances in pharmacology (San Diego, Calif.) · 2023Article
- Review
- Article
- Epigenetic ageing of the prefrontal cortex and cerebellum in humans and chimpanzees.Epigenetics · 2022Article
- An Analysis of Methylome Evolution in Primates.Molecular biology and evolution · 2021Article
- Article
- Conservation of Aging and Cancer Epigenetic Signatures across Human and Mouse.Molecular biology and evolution · 2021Article
- Epigenomic profiling of primate lymphoblastoid cell lines reveals the evolutionary patterns of epigenetic activities in gene regulatory architectures.Nature communications · 2021Article
- Comparative analysis reveals distinctive epigenetic features of the human cerebellum.PLoS genetics · 2021Article
- Age-associated epigenetic change in chimpanzees and humans.Philosophical transactions of the Royal Society of London. Series B, Biological sciences · 2020Article
Corrections and comments
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Authors and funding
9 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Despite the increasing knowledge about DNA methylation, the understanding of human epigenome evolution is in its infancy. Using whole genome bisulfite sequencing we identified hundreds of differentially methylated regions (DMRs) in humans compared to non-human primates and estimated that ∼25% of these regions were detectable throughout several human tissues. Human DMRs were enriched for specific histone modifications and the majority were located distal to transcription start sites, highlighting the importance of regions outside the direct regulatory context. We also found a significant excess of endogenous retrovirus elements in human-specific hypomethylated.We reported for the first time a close interplay between inter-species genetic and epigenetic variation in regions of incomplete lineage sorting, transcription factor binding sites and human differentially hypermethylated regions. Specifically, we observed an excess of human-specific substitutions in transcription factor binding sites located within human DMRs, suggesting that alteration of regulatory motifs underlies some human-specific methylation patterns. We also found that the acquisition of DNA hypermethylation in the human lineage is frequently coupled with a rapid evolution at nucleotide level in the neighborhood of these CpG sites. Taken together, our results reveal new insights into the mechanistic basis of human-specific DNA methylation patterns and the interpretation of inter-species non-coding variation.
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