Targeting of Calbindin 1 rescues erythropoiesis in a human model of Diamond Blackfan anemia.

ABSTRACT: Diamond Blackfan anemia (DBA) is an inherited bone marrow failure syndrome characterized by congenital anomalies, cancer predisposition and a severe hypo-proliferative anemia. It was the first disease linked to ribosomal dysfunction and >70 % of patients have been identified to have a haploinsufficiency of a ribosomal protein (RP) gene, with RPS19 being the most common mutation. There is significant variability within the disease in terms of phenotype as well as response to therapy suggesting that other genes contribute to the pathophysiology and potential management of this disease. To explore these questions, we performed a genome-wide CRISPR screen in a cellular model of DBA and identified Calbindin 1 (CALB1), a member of the calcium-binding superfamily, as a potential modifier of the d

SUBMITTER: Wang N 

PROVIDER: S-EPMC10330851 | biostudies-literature | 2023 Sep

REPOSITORIES: biostudies-literature