Phelps R G, Murai C, Saito S, Hatakeyama A, Andrikopoulos K, Kasturi K N, Bona C A
Department of Pathology, Mount Sinai School of Medicine, New York, New York, USA.
Mol Med. 1998 May;4(5):356-60.
Collagen V plays a major regulatory role in the formation of heterotypic fibers of the dermis and cartilaginous tissues as well as in the assembly of extracellular matrix. The pN/pN mouse, which is defective in collagen V alpha 2 gene, exhibits skeletal abnormalities, skin fragility, and alterations in the collagen fiber organization, whereas the TSK/+ mouse, which is defective in fibrillin-1, the major component of microfibrils present in the extracellular matrix, develops cutaneous hyperplasia and autoimmunity. We have studied the role of collagen V in the formation of heterotypic collagen fibers in F1 mice, which are obtained by breeding pN/pN with TSK/+ mice. Our results show that F1 progeny neither develop cutaneous hyperplasia nor produce anti-topoisomerase I autoantibodies, unlike TSK/+ mice. The diameter of the collagen fibrils in the skin is also comparable to that found in control mice. Thus, the phenotypic changes observed in the TSK mouse could be reversed by genetic complementation with a collagen V-defective mouse.
胶原蛋白V在真皮和软骨组织异型纤维的形成以及细胞外基质的组装中起主要调节作用。胶原蛋白Vα2基因有缺陷的pN/pN小鼠表现出骨骼异常、皮肤脆弱以及胶原纤维组织改变，而原纤维蛋白-1（细胞外基质中微原纤维的主要成分）有缺陷的TSK/+小鼠则出现皮肤增生和自身免疫。我们研究了胶原蛋白V在通过将pN/pN与TSK/+小鼠杂交获得的F1小鼠异型胶原纤维形成中的作用。我们的结果表明，与TSK/+小鼠不同，F1后代既不发生皮肤增生也不产生抗拓扑异构酶I自身抗体。皮肤中胶原原纤维的直径也与对照小鼠中的相当。因此，TSK小鼠中观察到的表型变化可以通过与胶原蛋白V缺陷小鼠的基因互补来逆转。
