MDS-associated mutations in germline GATA2 mutated patients with hematologic manifestations

GATA2 is a zinc finger transcription factor important for the production and maintenance of hematopoietic stem cells both in the embryo and during adult definitive hematopoiesis. It activates its own expression and thus hematopoietic cells are extremely sensitive the levels of GATA2 [1]. GATA2 binds to several downstream targets including SPI1 (PU.1), LMO2, TAL1, FLI1 and RUNX1 [2]. In humans, germline mutations have been shown to be the cause of the disorder known as GATA2 deficiency. Mutations across the gene, including missense, frameshift, nonsense, deletions, and regulatory variants lead to haploinsufficiency and disease state [3].

Source: Leukemia Research - December 4, 2018 Category: Hematology Authors: Lisa J. McReynolds, Yanqin Yang, Hong Yuen Wong, Jingrong Tang, Yubo Zhang, Matthew P. Mul é, Janine Daub, Cindy Palmer, Ladan Foruraghi, Qingguo Liu, Jun Zhu, Weixin Wang, Robert R. West, Marielle E. Yohe, Amy P. Hsu, Dennis D. Hickstein, Danielle M. To Tags: Research paper Source Type: research