Molecular convergence in ex vivo models of Diamond-Blackfan anemia.

ABSTRACT: Diamond-Blackfan anemia (DBA) is a congenital bone marrow failure syndrome characterized by erythroid hypoplasia, usually without perturbation of other hematopoietic lineages. Approximately 65% of DBA patients with autosomal dominant inheritance have heterozygous mutations or deletions in ribosomal protein (RP) genes while <1% of patients with X-linked inheritance have been identified with mutations in the transcription factor GATA1 Erythroid cells from patients with DBA have not been well characterized, and the mechanisms underlying the erythroid specific effects of either RP or GATA1 associated DBA remain unclear. We have developed an ex vivo culture system to expand peripheral blood CD34⁺ progenitor cells from patients with DBA and differentiate them into erythr

SUBMITTER: O'Brien KA 

PROVIDER: S-EPMC5465839 | biostudies-literature | 2017 Jun

REPOSITORIES: biostudies-literature