RPS19 and RPL5 haploinsufficient models reveal divergent ribosomal subunit controls of fetal hematopoiesis - PubMed
5 hours ago
- #DBAS
- #ribosomal proteins
- #fetal hematopoiesis
- RPS19 and RPL5 haploinsufficiency models show different roles in fetal hematopoiesis, with RPL5 causing hematopoietic stem and progenitor cell accumulation via p53-mediated ferroptosis, while RPS19 leads to HSPC depletion through p53-dependent apoptosis.
- The study links RPS19 haploinsufficiency to translational and transcriptional dysregulation, including RUNX1 upregulation, and demonstrates that Runx1 deletion partially rescues HSPC numbers in mice.
- Findings provide insights into Diamond Blackfan anemia syndrome pathogenesis, revealing how imbalanced ribosomal protein stoichiometry disrupts developmental programs and contributes to clinical heterogeneity.