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GATA2 deficiency syndrome: A compensatory mechanism gone awry?

Ana Rio-Machin
Published in: British journal of haematology (2024)
In their paper, using zebrafish models, Gioacchino et al. have demonstrated the GATA2 haploinsufficiency, the genetic hallmark of GATA2 deficiency syndrome, promotes erythroid and myeloid cytopenia, and have discovered a self-regulatory mechanism to compensate GATA2 levels and protein function. Commentary on: Gioacchino et al. GATA2 heterozygosity causes an epigenetic feedback mechanism resulting in myeloid and erythroid dysplasia. Br J Haematol 2024;205:580-593.
Keyphrases
  • transcription factor
  • bone marrow
  • acute myeloid leukemia
  • case report
  • dna methylation
  • gene expression
  • genome wide