Article
Inherited C-terminal TREX1 variants disrupt homology-directed repair to cause senescence and DNA damage phenotypes in Drosophila, mice, and humans.
Nature communications - 1 Jun 2024
Chauvin Samuel D, Ando Shoichiro, Holley Joe A, Sugie Atsushi, Zhao Fang R, Poddar Subhajit, Kato Rei, Miner Cathrine A, Nitta Yohei, Krishnamurthy Siddharth R, Saito Rie, Ning Yue, Hatano Yuya, Kitahara Sho, Koide Shin, Stinson W Alexander, Fu Jiayuan, Surve Nehalee, Kumble Lindsay, Qian Wei, Polishchuk Oleksiy, Andhey Prabhakar S, Chiang Cindy, Liu Guanqun, Colombeau Ludovic, Rodriguez Raphaël, Manel Nicolas, Kakita Akiyoshi, Artyomov Maxim N, Schultz David C, Coates P Toby, Roberson Elisha D O, Belkaid Yasmine, Greenberg Roger A, Cherry Sara, Gack Michaela U, Hardy Tristan, Onodera Osamu, Kato Taisuke, Miner Jonathan J
Abstract excerpt
Age-related microangiopathy, also known as small vessel disease (SVD), causes damage to the brain, retina, liver, and kidney. Based on the DNA damage theory of aging, we reasoned that genomic instability may underlie an SVD caused by dominant C-terminal variants in TREX1, the most abundant 3'-5' DNA exonuclease in mammals. C-terminal TREX1 variants cause an adult-onset SVD known as retinal vasculopathy with...
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