期刊
FRONTIERS IN PHYSIOLOGY
卷 11, 期 -, 页码 -出版社
FRONTIERS MEDIA SA
DOI: 10.3389/fphys.2020.590180
关键词
transcription factor; TFII-I; Gtf2i; erythropoiesis; megakaryopoiesis; globin
类别
资金
- American Society of Hematology
- NIH [R56DK111439, R01HL131444, RO1DK098449]
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, includingGTF2I, 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/Gtf2igene in adult mice by tamoxifen induced Cre-recombination. Bone marrow cells revealed defects in erythro-megakaryopoiesis and an increase in expression of the adult beta-globin gene. The data show that TFII-I acts as a repressor of beta-globin gene transcription and that it is implicated in the differentiation of erythro-megakaryocytic cells.
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