Preliminary study on the function of the POLD1 (CDC2) EXON2 c.56G>A mutation.

ABSTRACT:

Background

Fanconi anemia (FA) is a rare recessive disease characterized by DNA damage repair deficiency, and DNA polymerase δ (whose catalytic subunit is encoded by POLD1, also known as CDC2) is closely related to DNA damage repair. Our previous study identified a novel POLD1 missense mutation c.56G>A (p. Arg19>His) in FA family members. However, the function of the POLD1 missense mutation is currently unknown. This study aimed to uncover the biological function of the POLD1 missense mutation.

Methods

Stable cell lines overexpressing wild-type POLD1 or mutant POLD1 (c.56G>A, p.Arg19His) were constructed by lentivirus infection. Cell growth curve analysis, cell cycle analysis, and a comet assay were used to analyze the function of the POLD1 mutation.

Results

The growt

SUBMITTER: Liu J 

PROVIDER: S-EPMC7434749 | biostudies-literature | 2020 Aug

REPOSITORIES: biostudies-literature