Locus-specific transposable element expression drives human hematopoietic stem cell disease pathophysiology
Angelica Varesi, Sontago Dong, Chiara Gaddoni, Kerstin B. Kaufmann, Tevis Wong, Ivan Merelli, Andy G.X. Zeng, Jessica McLeod, Liqing Jin, Isabella Di Biasio, Igor Novitzky-Basso, Jonas Mattson, Stephanie Zhi-Juan Xie, Bowen Li, Samuele Ferrari, John E. Dick
This study identifies locus-specific transposable elements driving VEXAS syndrome pathophysiology by regulating myeloid commitment in UBA1-mutant hematopoietic stem cells.
bioRxiv · Aug 5, 2026 · PreprintGenetics