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

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.56...

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Veröffentlicht in:	Molecular genetics & genomic medicine 2020-08, Vol.8 (8), p.e1280-n/a
Hauptverfasser:	Liu, Jing, Liu, Yu, Fu, Jingxuan, Liu, Chengeng, Yang, Tingting, Zhang, Xiaomin, Cao, Min, Wang, Peichang
Format:	Artikel
Sprache:	eng
Schlagworte:	Anemia Bioassays Cdc2 protein Cell cycle Cell growth Cell lines Cell Proliferation Cloning Comet assay Damage detection Deoxyribonucleic acid DNA DNA damage DNA polymerase DNA Polymerase III - genetics DNA Polymerase III - metabolism DNA polymerase δ DNA Repair DNA-directed DNA polymerase Experiments Fanconi anemia Fanconi syndrome G1 phase G1 Phase Cell Cycle Checkpoints HEK293 Cells Humans Hydrogen peroxide Microscopy Missense mutation Morphology Mutation Mutation, Missense Original Point Mutation POLD1 mutation Proteins Repair S phase Standard deviation
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Zusammenfassung:	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 growth and proliferative ability of the cells with POLD1 mutation was decreased significantly compared with those of the wild‐type cells (Student's t test, p
ISSN:	2324-9269 2324-9269
DOI:	10.1002/mgg3.1280