Unscheduled DNA synthesis reveals a DNA repair hotspot and biomarker of somatic instability at the expanded-CAG repeat tract in the huntingtin gene
Judith Praena Fernandez, Annette Gärtner, Jesús Pérez‐Pérez, Sarah A. Cumming, Jia Feng, Katherine Van Belois, Kangning He, Denny Yang, Carla Castells-Esteve, Maria Bergé-Gardeñes, A.L. Bergander, Krzysztof P. Lubieniecki, Mihai Miclăuș, Nicolás Fissolo, Manuel Comabella, , Paolo Beuzer
The paper develops URSA, a method to quantify DNA repair activity at the CAG repeat tract in HD, showing it correlates with somatic instability and can be measured rapidly in blood cells.
bioRxiv · Jul 29, 2026 · PreprintNeuroscience