Zhou J, Mochizuki T, Smeets H, Antignac C, Laurila P, de Paepe A, Tryggvason K, Reeders S T
Howard Hughes Medical Institute, Yale University School of Medicine, New Haven, CT 06536-0812.
Science. 1993 Aug 27;261(5125):1167-9. doi: 10.1126/science.8356449.
The gene encoding alpha 6(IV) collagen, COL4A6, was identified on the human X chromosome in a head-to-head arrangement and within 452 base pairs of the alpha 5(IV) collagen gene, COL4A5. In earlier studies, intragenic deletions of COL4A5 were detected in a subset of patients with Alport syndrome (AS), a hereditary defect of basement membranes. In some families, AS cosegregates with diffuse leiomyomatosis (DL), a benign smooth muscle tumor diathesis. Here it is shown that patients with AS-DL harbor deletions that disrupt both COL4A5 and COL4A6. Thus, type IV collagen may regulate smooth muscle differentiation and morphogenesis.
编码α6（IV）胶原蛋白的基因COL4A6，在人类X染色体上以头对头的排列方式，且位于α5（IV）胶原蛋白基因COL4A5的452个碱基对范围内被鉴定出来。在早期研究中，在一部分遗传性基底膜缺陷的阿尔波特综合征（AS）患者中检测到了COL4A5基因内的缺失。在一些家族中，AS与弥漫性平滑肌瘤病（DL）共分离，弥漫性平滑肌瘤病是一种良性平滑肌肿瘤素质。本文表明，患有AS-DL的患者存在破坏COL4A5和COL4A6的缺失。因此，IV型胶原蛋白可能调节平滑肌的分化和形态发生。
