Department of Genetics, The Scripps Research Institute, La Jolla, CA 92037, USA.
J Exp Med. 2012 Jan 16;209(1):19-27. doi: 10.1084/jem.20112084. Epub 2011 Dec 26.
In this study, we describe a chemically induced mouse mutation that caused a complete and cell-intrinsic T cell deficiency. Development of other lymphoid lineages was also partially impaired and was severely compromised under competitive conditions. Positional cloning, retroviral transduction, and a somatic reversion event revealed that the causative mutation lay within Zbtb1 (zinc finger and BTB domain containing 1), a gene conserved throughout vertebrate evolution. Our data establish ZBTB1 as a critical determinant of T cell development and lymphopoiesis in general, most likely by acting as a transcriptional regulator.
在这项研究中，我们描述了一种化学诱导的小鼠突变，该突变导致完全且细胞内的 T 细胞缺陷。其他淋巴谱系的发育也部分受损，在竞争条件下严重受损。定位克隆、逆转录病毒转导和体细胞回复事件表明，致病突变位于 Zbtb1（锌指和 BTB 结构域包含 1）内，该基因在整个脊椎动物进化中都得到保守。我们的数据确立了 ZBTB1 作为 T 细胞发育和总体淋巴发生的关键决定因素，很可能是作为转录调节剂发挥作用。
