BTRR complex deficiency is a driver for genomic instability in Bloom syndrome
Ipek Ilgin Gönenç, Alexander Wolff, Alexandra Viktoria Busley, Angela Wieland, Andréa E. Tijhuis, Christian Müller, René Wardenaar, Loukas Argyriou, Silke Kaulfuß, Markus Räschle, Diana C.J. Spierings, Floris Foijer, Holger Bastians, Andrew N. Blackford, Gökhan Yigit, , Bernd Wollnik
This study shows that BTRR complex deficiency increases genomic instability through copy number alterations, enriched at fragile sites, using CRISPR-edited iPSC models.
bioRxiv · Apr 17, 2025 · PreprintGenetics