Evidence map›Paper›PMID 32727923›Full record

ArticleG3 (Bethesda, Md.)2020

The Impact of DNA Methylation Dynamics on the Mutation Rate During Human Germline Development.

Yijia Zhou, Funan He, Weilin Pu, Xun Gu, Jiucun Wang, Zhixi Su

Open access · goldAbstract read
In one paragraph

Article in G3 (Bethesda, Md.), 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.

0numbers the graph read from it
0cells of the map it votes in
24citing papers in PubMed
3.8field-weighted citation impact, top 6% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

24 citing papers in PubMed, 45 citations in OpenAlex.

  1. Effect of methylation on genome mutability in cattle.Genetics, selection, evolution : GSE · 2026
    Article
  2. Article
  3. Article
  4. Epigenomic methylome landscape of promoters in vertebrate genomes.bioRxiv : the preprint server for biology · 2026
    Article
  5. Article
  6. Article
  7. Complementary genetic and epigenetic changes facilitate rapid adaptation to multiple global change stressors.Proceedings of the National Academy of Sciences of the United States of America · 2025
    Article
  8. Germ cells and the aging niche: a systems approach to reproductive longevity.Journal of assisted reproduction and genetics · 2025
    Review
  9. Article
  10. Article
  11. Article
  12. Article
  13. Article
  14. Review
  15. Article
  16. Review
  17. Review
  18. Article
  19. Review
  20. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

6 authors at 3 institutions in 2 countries.

Yijia ZhouMinistry of Education Key Laboratory of Contemporary Anthropology, School of Life Sciences, Fudan University, Shanghai, 200433, China.ORCID 0000-0002-7260-620X
Funan HeMinistry of Education Key Laboratory of Contemporary Anthropology, School of Life Sciences, Fudan University, Shanghai, 200433, China.
Weilin PuMinistry of Education Key Laboratory of Contemporary Anthropology, School of Life Sciences, Fudan University, Shanghai, 200433, China.
Xun GuDepartment of Genetics, Development and Cell Biology, Iowa State University, Ames, IA 50011.
Jiucun WangDepartment of Anthropology and Human Genetics, School of Life Sciences, Fudan University, Shanghai, 200433, China suzhixi@gmail.com jcwang@fudan.edu.cn.ORCID 0000-0003-2765-0620
Zhixi SuSinglera Genomics Inc., Shanghai, 201318, China suzhixi@gmail.com jcwang@fudan.edu.cn.ORCID 0000-0002-4881-1238
Fudan University · CNIowa State University · USSinotech Genomics (China) · CN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

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 methylation dynamics in germline development and the germline mutation rate remains unexplored. In this study, we used whole genome bisulfite sequencing (WGBS) data of cells at 13 stages of human germline development and rare variants from the 1000 Genome Project as proxies for germline mutations to investigate the correlation between dynamic methylation levels and germline mutation rates at different scales. At the single-site level, we found a significant correlation between methylation and the germline point mutation rate at CpG sites during germline developmental stages. Then we explored the mutability of methylation dynamics in all stages. Our results also showed a broad correlation between the regional methylation level and the rate of C > T mutation at CpG sites in all genomic regions, especially in intronic regions; a similar link was also seen at all chromosomal levels. Our findings indicate that the dynamic DNA methylome during human germline development has a broader mutational impact than is commonly assumed.

Indexed as

DNA MethylationMutation RateCpG IslandsEpigenesis, GeneticGerm CellsHumans1000 Genome ProjectDNA methylationearly fetal developmentgerm cellgermline mutation rate

Identifiers

PMID32727923
PMCPMC7466984
OpenAlexW3045927897

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.