ArticleBMC cancer2024
Pathogenic variants in human DNA damage repair genes mostly arose in recent human history.
Article in BMC cancer, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed, 7 citations in OpenAlex.
- Exploring Traditional Breast Cancer Risk Genes Among Aboriginal and Torres Strait Islander Women.Life (Basel, Switzerland) · 2026Article
- Harnessing archaeogenetic for cancer therapy: bridging ancient DNA insights with modern therapeutic innovations.Clinical epigenetics · 2026Review
- Pathogenic variation in human DNA damage repair genes was originated from the evolutionary process of modern humans.Genes & diseases · 2026Review
- Pancancer analysis of DNA damage repair gene mutations and their impact on immune regulatory gene expression.Scientific reports · 2025Article
- Review
- Comprehensive classification of TP53 somatic missense variants based on their impact on p53 structural stability.Briefings in bioinformatics · 2024Article
- Pathogenic variants in human DNA damage repair genes mostly arose after the latest human out-of-Africa migration.Frontiers in genetics · 2024Article
- Evolutionary Origin of HumanInternational journal of molecular sciences · 2023Article
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Authors and funding
11 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundGenome stability is maintained by the DNA damage repair (DDR) system composed of multiple DNA repair pathways of hundreds of genes. Germline pathogenic variation (PV) in DDR genes damages function of the affected DDR genes, leading to genome instability and high risk of diseases, in particular, cancer. Knowing evolutionary origin of the PVs in human DDR genes is essential to understand the etiology of human diseases. However, answer to the issue remains largely elusive. In this study, we analyzed evolutionary origin for the PVs in human DDR genes.
methodsWe identified 169 DDR genes by referring to various databases and identified PVs in the DDR genes of modern humans from ClinVar database. We performed a phylogenetic analysis to analyze the conservation of human DDR PVs in 100 vertebrates through cross-species genomic data comparison using the phyloFit program of the PHAST package and visualized the results using the GraphPad Prism software and the ggplot module. We identified DDR PVs from over 5000 ancient humans developed a database to host the DDR PVs ( https://genemutation.fhs.um.edu.mo/dbDDR-AncientHumans ). Using the PV data, we performed a molecular archeological analysis to compare the DDR PVs between modern humans and ancient humans. We analyzed evolution selection of DDR genes across 20 vertebrates using the CodeML in PAML for phylogenetic analysis.
resultsOur phylogenic analysis ruled out cross-species conservation as the origin of human DDR PVs. Our archeological approach identified rich DDR PVs shared between modern and ancient humans, which were mostly dated within the last 5000 years. We also observed similar pattern of quantitative PV distribution between modern and ancient humans. We further detected a set of ATM, BRCA2 and CHEK2 PVs shared between human and Neanderthals.
conclusionsOur study reveals that human DDR PVs mostly arose in recent human history. We propose that human high cancer risk caused by DDR PVs can be a by-product of human evolution.
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