DiSanto J P, Certain S, Wilson A, MacDonald H R, Avner P, Fischer A, de Saint Basile G
INSERM U132, Hôpital Necker-Enfants Malades, Institut Pasteur, Paris, France.
Eur J Immunol. 1994 Dec;24(12):3014-8. doi: 10.1002/eji.1830241214.
Defects in the interleukin-2 receptor gamma (IL-2R gamma) chain in the man result in an X-linked severe combined immunodeficiency, SCIDX1, characterized by an absence of T-cell differentiation. This phenotype may result from pertubations in IL-2, IL-4-, IL-7- or IL-15-mediated signaling, as the IL-2R gamma chain forms an integral component of these receptor systems. We have isolated and characterized cDNA and genomic clones for the murine IL-2R gamma. The gene (Il2rg) is well conserved between mouse and man with respect to overall structure and size, and contains regions of high conservation in the promoter region as well. Il2rg maps to mouse X chromosome region 40, in a region of synteny with human Xq12-13.1. We have also explored the expression of the IL-2R gamma during thymocyte development. IL-2R gamma transcripts are detected in the earliest thymocyte precursor cells and persist throughout intrathymic development into the mature peripheral compartment. Genomic clones for the murine IL-2R gamma will allow for further studies on the regulation and function of this gene in vivo.
人类白细胞介素-2受体γ(IL-2Rγ)链缺陷会导致X连锁重症联合免疫缺陷病(SCIDX1),其特征是T细胞分化缺失。这种表型可能是由于IL-2、IL-4、IL-7或IL-15介导的信号传导受到干扰,因为IL-2Rγ链是这些受体系统的一个组成部分。我们已经分离并鉴定了小鼠IL-2Rγ的cDNA和基因组克隆。该基因(Il2rg)在小鼠和人类之间,在整体结构和大小方面高度保守,并且在启动子区域也有高度保守的区域。Il2rg定位于小鼠X染色体40区,与人类Xq12-13.1存在同线性区域。我们还研究了胸腺细胞发育过程中IL-2Rγ的表达。在最早的胸腺细胞前体细胞中可检测到IL-2Rγ转录本,并且在整个胸腺内发育过程中持续存在,直至成熟的外周区室。小鼠IL-2Rγ的基因组克隆将有助于进一步研究该基因在体内的调控和功能。