Wu C, Sayos J, Wang N, Howie D, Coyle A, Terhorst C
Division of Immunology, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, MA 02215, USA.
Immunogenetics. 2000 Aug;51(10):805-15. doi: 10.1007/s002510000215.
X-linked lymphoproliferative (XLP) disease is a fatal immunological disorder that renders the immune system unable to respond effectively to Epstein-Barr virus (EBV) infection. The gene that encodes a protein termed SAP or SH2D1A is either deleted or mutated in XLP patients, resulting in uncontrolled B- and T-cell proliferation upon EBV infection. Here, we report the cloning and characterization of the mouse SAP gene. It is localized on the mouse X chromosome and comprises four exons spanning approximately 25 kb. Its expression appears to be restricted to T lymphocytes. Whereas a high level of SAP expression is observed in Thl cells, only small amounts are detectable in Th2 cells. Moreover, SAP expression is down-regulated upon in vitro activation of T cells, including CD4+, CD8+ single-positive T cells, and Thl and Th2 cells. This study provides valuable information for in-depth genetic and biochemical analysis of the function of SAP in the immune system.
X连锁淋巴增殖性（XLP）疾病是一种致命的免疫紊乱疾病，它使免疫系统无法对爱泼斯坦-巴尔病毒（EBV）感染做出有效反应。在XLP患者中，编码一种名为SAP或SH2D1A的蛋白质的基因要么缺失要么发生突变，导致EBV感染时B细胞和T细胞不受控制地增殖。在此，我们报告小鼠SAP基因的克隆与特性。它定位于小鼠X染色体上，由四个外显子组成，跨越约25 kb。其表达似乎仅限于T淋巴细胞。虽然在Th1细胞中观察到高水平的SAP表达，但在Th2细胞中只能检测到少量表达。此外，T细胞（包括CD4 +、CD8 +单阳性T细胞以及Th1和Th2细胞）在体外激活后，SAP表达会下调。本研究为深入进行关于SAP在免疫系统中功能的遗传和生化分析提供了有价值的信息。
