Gurumurthy Aishwarya, Wu Qiong, Nar Rukiye, Paulsen Kimberly, Trumbull Alexis, Fishman Ryan C, Brand Marjorie, Strouboulis John, Qian Zhijian, Bungert Jörg
Department of Biochemistry and Molecular Biology, College of Medicine, UF Health Cancer Center, Genetics Institute, Powell Gene Therapy Center, University of Florida, Gainesville, FL, United States.
Division of Medicine and Department of Biochemistry and Molecular Biology, UF Health Cancer Center, University of Florida, Gainesville, FL, United States.
Front Physiol. 2020 Sep 25;11:590180. doi: 10.3389/fphys.2020.590180. eCollection 2020.
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 , 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/ 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.
TFII-I是一种广泛表达的转录因子，可正向或负向调节基因表达。TFII-I与神经元和免疫疾病以及胸腺上皮癌有关。威廉姆斯-贝伦综合征（WBS）由7号染色体q11.23上的大片半合子缺失引起，该缺失包含26 - 28个基因，包括编码TFII-I的人类基因。最近发现一部分WBS患者出现大红细胞症，这是一种以红细胞增大为特征的轻度贫血。我们通过他莫昔芬诱导的Cre重组在成年小鼠中条件性敲除TFII-I/基因。骨髓细胞显示红系巨核细胞生成存在缺陷，且成年β-珠蛋白基因的表达增加。数据表明TFII-I作为β-珠蛋白基因转录的抑制因子，并且与红系巨核细胞的分化有关。
