Related Experiment Video
Updated: Jun 9, 2026

Visualizing the DNA Damage Response in Purkinje Cells Using Cerebellar Organotypic Cultures
Published on: December 27, 2024
A functional single nucleotide polymorphism in promoter of ATM is associated with longevity
Tie Chen1, Birong Dong, Zhenchan Lu
1Laboratory of Stem Cell Biology and Department of Geriatrics, State Key Laboratory of Biotherapy, West China Hospital, West China Medical School, Sichuan University, Chengdu, China.
Abstract:
Although the 'ataxia telangiectasia mutated' (ATM) gene plays an important role in physiological processes, such as sensing DNA damage, reducing oxidative stress and protecting telomeres length, little information about ATM and longevity is available. Therefore, we aim to examine the association between genetic variants in promoter of ATM and longevity in Chinese Nonagenarians/Centenarians. Genotyping was performed in 789 long-lived individuals (LLIs) and 886 ethnically matched control subjects. A single nucleotide polymorphism (SNP, rs189037) in the promoter region of ATM gene was identified, and significant association between CT genotype and longevity was observed. Meanwhile, the SNP was able to affect expression of ATM mRNA by differentially binding to AP-2α. The CC genotype strongly bound to AP-2α, and the TT genotype showed less binding affinity to AP-2α. The AP-2α strongly repressed the reporter expression in the CC genotype and showed less repression of the TT genotype driving expression in vitro assay. Accordingly, TT genotype individuals had highest ATM mRNA expression, CT genotype individuals had moderate ATM mRNA expression, and the CC genotype individuals had the lowest ATM mRNA.
More Related Videos
10:39A Suppressor Screen for the Characterization of Genetic Links Regulating Chronological Lifespan in Saccharomyces cerevisiae
Published on: September 17, 2020
11:35Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay (EMSA) and DNA-affinity Precipitation Assay (DAPA)
Published on: August 21, 2016
Related Concept Videos
Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase
DNA Damage can Stall the Cell Cycle
DNA Damage Can Stall the Cell Cycle
Single Nucleotide Polymorphisms-SNPs
Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu
Pharmacogenetics of Drug Transporters: P-Glycoprotein and Solute Carrier Transporters