Article
The non-canonical BAF chromatin remodeling complex is a novel target of spliceosome dysregulation in SF3B1-mutated chronic lymphocytic leukemia.
Leukemia - 1 Nov 2024
Hägerstrand Daniel, Oder Blaž, Cortese Diego, Qu Ying, Binzer-Panchal Amrei, Österholm Cecilia, Del Peso Santos Teresa, Rabbani Leily, Asl Hassan Foroughi, Skaftason Aron, Ljungström Viktor, Lundholm August, Koutroumani Maria, Haider Zahra, Jylhä Cecilia, Mollstedt John, Mansouri Larry, Plevova Karla, Agathangelidis Andreas, Scarfò Lydia, Armand Marine, Muggen Alice F, Kay Neil E, Shanafelt Tait, Rossi Davide, Orre Lukas M, Pospisilova Sarka, Barylyuk Konstantin, Davi Frederic, Vesterlund Mattias, Langerak Anton W, Lehtiö Janne, Ghia Paolo, Stamatopoulos Kostas, Sutton Lesley-Ann, Rosenquist Richard
Abstract excerpt
SF3B1 mutations are recurrent in chronic lymphocytic leukemia (CLL), particularly enriched in clinically aggressive stereotyped subset #2. To investigate their impact, we conducted RNA-sequencing of 18 SF3B1MUT and 17 SF3B1WT subset #2 cases and identified 80 significant alternative splicing events (ASEs). Notable ASEs concerned exon inclusion in the non-canonical BAF (ncBAF) chromatin remodeling complex subunit,...
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