Pathogenic variants in human DNA damage repair genes mostly arose in recent human history.

ABSTRACT:

Background

Genome 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.

Methods

We 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

SUBMITTER: Zhao B 

PROVIDER: S-EPMC10993466 | biostudies-literature | 2024 Apr

REPOSITORIES: biostudies-literature