Disease-Causing Mutations in SF3B1 Alter Splicing by Disrupting Interaction with SUGP1

Zhang et  al. report that SF3B1 mutations found in myelodysplastic syndromes and many cancers disrupt interaction with splicing factor SUGP1 during branchsite recognition, leading to aberrant use of upstream branch points and cryptic 3′ splice sites during RNA splicing. This defect in splicing due to canc er-causing SF3B1 mutations is rescuable.

Source: Molecular Cell - August 28, 2019 Category: Cytology Authors: Jian Zhang, Abdullah M. Ali, Yen K. Lieu, Zhaoqi Liu, Jianchao Gao, Raul Rabadan, Azra Raza, Siddhartha Mukherjee, James L. Manley Tags: Article Source Type: research