Post-GWAS functional analysis identifies CUX1 as a regulator of p16<sup>INK4a</sup> and cellular senescence.

Jiang, Danli; Sun, Wei; Wu, Ting; Zou, Meijuan; Vasamsetti, Sathish Babu; Zhang, Xiaoyu; Zhao, Yihan; Phillippi, Julie A et al. · Nat Aging · 2022

basic_science · Level V

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Abstract

Accumulation of senescent cells with age is an important driver of aging and age-related diseases. However, the mechanisms and signaling pathways that regulate senescence remain elusive. In this report, we performed post-genome-wide association studies (GWAS) functional studies on the CDKN2A/B locus, a locus known to be associated with multiple age-related diseases and overall human lifespan. We demonstrate that transcription factor CUX1 (Cut-Like Homeobox 1) specifically binds to an atherosclerosis-associated functional single-nucleotide polymorphism (fSNP) (rs1537371) within the locus and regulates the CDKN2A/B-encoded proteins p14<sup>ARF</sup>, p15<sup>INK4b</sup> and p16<sup>INK4a</sup> and the antisense noncoding RNA in the CDK4 (INK4) locus (ANRIL) in endothelial cells (ECs). Endothelial CUX1 expression correlates with telomeric length and is induced by both DNA-damaging agents and oxidative stress. Moreover, induction of CUX1 expression triggers both replicative and stress-induced senescence via activation of p16<sup>INK4a</sup> expression. Thus, our studies identify CUX1 as a regulator of p16<sup>INK4a</sup>-dependent endothelial senescence and a potential therapeutic target for atherosclerosis and other age-related diseases.

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