Analysis of GATA2 gene regulation using bacterial artificial chromosome transgenic mice

在本研究中，我们利用细菌人工染色体（BAC）转基因小鼠，证明了位于Gata2基因上游77 kb的GATA结合元件是造血祖细胞中Gata2基因的增强子。The-77增强子在3q21q26综合征的3q21和3q26之间的易位/倒位等位基因中接近原癌基因EVI1。因此，为了检验the-77增强子对3q21q26综合征中EVI1基因过表达的贡献，我们培育了含有含有3q21q26倒置等位基因的BAC转基因小鼠。

In this study, we demonstrated that a GATA binding element located at 77 kb upstream of Gata2 gene is an enhancer of Gata2 gene in hematopoietic progenitors using bacterial artificial chromosome(BAC)transgenic mice. The-77 enhancer is close to protooncogene EVI1 in translocated/inverted alleles between 3q21 and 3q26 in 3q21q26 syndrome. Therefore, we generated transgenic mice harboring a BAC transgene recapitulating the 3q21q26 inversion allele in order to examine contribution of the-77 enhancer to the EVI1 gene overexpression in 3q21q26 syndrome.