AUTHOR=Gurumurthy Aishwarya , Wu Qiong , Nar Rukiye , Paulsen Kimberly , Trumbull Alexis , Fishman Ryan C. , Brand Marjorie , Strouboulis John , Qian Zhijian , Bungert Jörg 

TITLE=TFII-I/Gtf2i and Erythro-Megakaryopoiesis

JOURNAL=Frontiers in Physiology

VOLUME=11

YEAR=2020

URL=https://www.frontiersin.org/journals/physiology/articles/10.3389/fphys.2020.590180

DOI=10.3389/fphys.2020.590180

ISSN=1664-042X

ABSTRACT=<p>TFII-I is a ubiquitously expressed transcription factor that positively or negatively regulates gene expression. TFII-I has been implicated in neuronal and immunologic diseases as well as in thymic epithelial cancer. Williams–Beuren Syndrome (WBS) is caused by a large hemizygous deletion on chromosome 7q11.23 which encompasses 26–28 genes, including <italic>GTF2I</italic>, the human gene encoding TFII-I. A subset of WBS patients has recently been shown to present with macrocytosis, a mild anemia characterized by enlarged erythrocytes. We conditionally deleted the TFII-I/<italic>Gtf2i</italic> gene in adult mice by tamoxifen induced Cre-recombination. Bone marrow cells revealed defects in erythro-megakaryopoiesis and an increase in expression of the adult β-globin gene. The data show that TFII-I acts as a repressor of β–globin gene transcription and that it is implicated in the differentiation of erythro-megakaryocytic cells.</p>