Weichenhan D, Kunze B, Zacker S, Traut W, Winking H
Institut für Biologie, Medizinische Universität zu Lübeck, Germany.
Genomics. 1997 Aug 1;43(3):298-306. doi: 10.1006/geno.1997.4834.
The human SP100 gene encodes an autoantigen that colocalizes with two other proteins, PML and NDP52, in distinct nuclear domains, called "nuclear dots" (NDs). NDs do not overlap with other known subnuclear structures, and their function is still unknown. Patients suffering from the autoimmune disease primary biliary cirrhosis often produce antibodies against the SP100 protein. The present study describes the structure and expression of the murine Sp100 gene. In the species Mus caroli, Sp100 consists of 17 exons that are distributed over a range of 52 kb. The human and murine Sp100 promoters are very similar, and both harbor an interferon-stimulated response element. Like its human counterpart, the murine Sp100 gene is responsive to interferon treatment. The house mouse, Mus musculus, harbors the Sp100 gene and a second gene with homology to Sp100, the multicopy Sp100-rs gene. However, in contrast to the genuine mouse homolog, Sp100-rs shares only segmental homology with the human Sp100 gene. Replacement of the murine Sp100 gene by a defective copy is now feasible and should shed light on its function in an animal model.
人类SP100基因编码一种自身抗原,该抗原与另外两种蛋白质PML和NDP52在不同的核结构域中共定位,这些核结构域被称为“核点”(NDs)。核点不与其他已知的亚核结构重叠,其功能仍然未知。患有自身免疫性疾病原发性胆汁性肝硬化的患者通常会产生针对SP100蛋白的抗体。本研究描述了小鼠Sp100基因的结构和表达。在小家鼠物种中,Sp100由17个外显子组成,分布在52 kb的范围内。人类和小鼠的Sp100启动子非常相似,并且都含有一个干扰素刺激反应元件。与其人类对应物一样,小鼠Sp100基因对干扰素治疗有反应。家鼠(小家鼠)含有Sp100基因和另一个与Sp100具有同源性的基因,即多拷贝Sp100-rs基因。然而,与真正的小鼠同源物不同,Sp100-rs仅与人类Sp100基因具有片段同源性。用缺陷拷贝取代小鼠Sp100基因现在是可行的,这应该能够在动物模型中阐明其功能。