Ontology highlight
ABSTRACT:
SUBMITTER: Potts KS
PROVIDER: S-EPMC9994853 | biostudies-literature | 2022 Dec
REPOSITORIES: biostudies-literature
Potts Kathryn S KS Cameron Rosannah C RC Metidji Amina A Ghazale Noura N Wallace LaShanale L Leal-Cervantes Ana I AI Palumbo Reid R Barajas Juan Martin JM Gupta Varun V Aluri Srinivas S Pradhan Kith K Myers Jacquelyn A JA McKinstry Mia M Bai Xiaoying X Choudhary Gaurav S GS Shastri Aditi A Verma Amit A Obeng Esther A EA Bowman Teresa V TV
Cell reports 20221201 11
Hematopoietic stem and progenitor cells (HSPCs) sustain lifelong hematopoiesis. Mutations of pre-mRNA splicing machinery, especially splicing factor 3b, subunit 1 (SF3B1), are early lesions found in malignancies arising from HSPC dysfunction. However, why splicing factor deficits contribute to HSPC defects remains incompletely understood. Using zebrafish, we show that HSPC formation in sf3b1 homozygous mutants is dependent on STAT3 activation. Clinically, mutations in SF3B1 are heterozygous; thu ...[more]