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Complex Genetic Regulation Underlies GATA2-Linked Human Diseases

GATA2 is a master regulator of the formation and development of hematopoietic stem/progenitor cells (HSPCs), which form the various types of blood cells. Dysregulation of GATA2 has been linked to several different human disease states, including leukemia, and MonoMAC and Emberger syndromes.

In this issue of the two research groups report on genetic that profoundly alter the expression and activity of GATA2. and colleagues at the University of Michigan disrupted GATA2 expression in the endothelial tissue of mice, which resulted in that was attributed to the loss of liver HSPCs and defective lymphatic vasculature development.

Researchers led by at the University of Wisconsin at Madison identified a new mutation in a GATA2 genetic in a MonoMAC patient. Deletion of this in mice caused embryonic lethality that was also linked to depletion of liver HSPCs and a loss of vascular integrity. Both of these studies underscore the role of GATA2 in vascular integrity and may help define the pathology of GATA2-associated human diseases.

“Conditional GATA2 inactivation results in HSC loss and lymphatic mispatterning” James Engel
The University of Michigan Medical Schoolool, Ann Arbor, MI, USA


“Cis-element mutated in GATA2-dependent immunodeficiency governs hematopoiesis and vascular integrity”
Emery Bresnick
University of Wisconsin School of Medicine and Public Health, Madison, WI, USA


Journal of Clinical Investigation Sept. 10, 2012