SRSF2 mutations drive oncogenesis by activating a global program of aberrant alternative splicing in hematopoietic cells

• Published in: Leukemia Vol. 32; no. 12; pp. 2659 - 2671
• Main Authors: Liang, Yang, Tebaldi, Toma, Rejeski, Kai, Joshi, Poorval, Stefani, Giovanni, Taylor, Ashley, Song, Yuanbin, Vasic, Radovan, Maziarz, Jamie, Balasubramanian, Kunthavai, Ardasheva, Anastasia, Ding, Alicia, Quattrone, Alessandro, Halene, Stephanie
• Format: Journal Article
• Language: English
• Published: London Nature Publishing Group UK 01.12.2018; Nature Publishing Group
• Subjects: 38; 38/39; 38/90; 38/91; 45; 631/80; 692/699/1541/1990/1673; Alternative splicing; Backup software; Binding sites; Cancer; Cancer Research; Carcinogenesis; Care and treatment; Critical Care Medicine; Development and progression; Exons; Gene mutation; Genetic aspects; Health aspects; Hematology; Hematopoiesis; In vivo methods and tests; Intensive; Internal Medicine; Medical schools; Medicine; Medicine & Public Health; Messenger RNA; mRNA; Mutation; Myelodysplastic syndrome; Myelodysplastic syndromes; Oncology; Phenotypes; Proteins; Ribonucleic acid; RNA; RNA processing; RNA splicing; Splicing factors; Tumorigenesis

Recurrent mutations in the splicing factor SRSF2 are associated with poor clinical outcomes in myelodysplastic syndromes (MDS). Their high frequency suggests these mutations drive oncogenesis, yet the molecular explanation for this process is unclear. SRSF2 mutations could directly affect pre-mRNA s...