Hatakeyama A, Kasturi K N, Wolf I, Phelps R G, Bona C A
Department of Microbiology, Mount Sinai School of Medicine, New York, New York 10029-6574, USA.
Cell Immunol. 1996 Jan 10;167(1):135-40. doi: 10.1006/cimm.1996.0017.
Cutaneous hyperplasia observed in tight skin mice is due to a mutation located on chromosome 2. While homozygous mice die in utero, the heterozygotes survive. TSK syndrome is associated with the presence of autoantibodies specific for scleroderma target autoantigens. The presence of autoantibodies specific for topoisomerase I is characteristic of both human and murine disease. We have generated two distinct genotypes of mice, TSK/+ and +/+ with respect to the TSK trait by breeding TSK mice with immunodeficient mouse strains. Since the mutated gene of TSK syndrome has not yet been cloned, only histological and biochemical criteria were used for defining TSK genotype. In the F1 mice derived by mating TSK/+ mice with RAG2-/-, JH-/-, or C57BLvit/vit mice, we have found a good correlation between the amount of serum anti-topoisomerase I autoantibodies present and the histopathological and biochemical alterations that are characteristic of TSK scleroderma-like syndrome.
在紧皮小鼠中观察到的皮肤增生是由位于2号染色体上的一个突变引起的。纯合子小鼠在子宫内死亡，而异合子小鼠存活。TSK综合征与针对硬皮病靶自身抗原的自身抗体的存在有关。针对拓扑异构酶I的自身抗体的存在是人类和小鼠疾病的特征。我们通过将TSK小鼠与免疫缺陷小鼠品系杂交，产生了两种关于TSK性状的不同基因型小鼠，即TSK/+和+/+。由于TSK综合征的突变基因尚未克隆，仅使用组织学和生化标准来定义TSK基因型。在将TSK/+小鼠与RAG2-/-、JH-/-或C57BLvit/vit小鼠交配产生的F1小鼠中，我们发现血清中抗拓扑异构酶I自身抗体的量与TSK硬皮病样综合征特征性的组织病理学和生化改变之间存在良好的相关性。
