Bell G I, Murray J C, Nakamura Y, Kayano T, Eddy R L, Fan Y S, Byers M G, Shows T B
Howard Hughes Medical Institute, University of Chicago, IL 60637.
Diabetes. 1989 Aug;38(8):1072-5. doi: 10.2337/diab.38.8.1072.
Glucose uptake by heart, skeletal muscle, and adipose tissue is acutely regulated by insulin, which stimulates facilitative glucose transport, at least in part, by promoting the translocation of transporters from an intracellular pool to the plasma membrane. cDNAs encoding the major human insulin-responsive glucose transporter have been isolated and indicate that the insulin-responsive glucose transporter expressed by heart, skeletal muscle, and adipose tissue is a 509-amino acid protein having 65.3, 54.3, and 57.5% identity with the erythrocyte/HepG2, liver, and fetal muscle glucose transporters, respectively. The gene encoding the insulin-responsive glucose transporter (designated GLUT4) was mapped to the p11----p13 region of the short arm of human chromosome 17 by analyzing its segregation in a panel of reduced human-mouse somatic cell hybrids. In situ hybridization to prometaphase chromosomes indicated that GLUT4 was in band p13. A common two-allele restriction-fragment-length polymorphism (RFLP) was identified with Kpn I, and linkage of this RFLP to other polymorphic DNA markers in this region of chromosome 17 provides a set of probes that will be useful for examining the role of this gene in the pathogenesis of diabetes mellitus.
心脏、骨骼肌和脂肪组织对葡萄糖的摄取受到胰岛素的急性调节，胰岛素至少部分地通过促进转运体从细胞内池转运到质膜来刺激易化性葡萄糖转运。编码主要人类胰岛素反应性葡萄糖转运体的cDNA已被分离出来，结果表明，心脏、骨骼肌和脂肪组织表达的胰岛素反应性葡萄糖转运体是一种由509个氨基酸组成的蛋白质，分别与红细胞/肝癌细胞系（HepG2）、肝脏和胎儿肌肉的葡萄糖转运体具有65.3%、54.3%和57.5%的同源性。通过分析其在一组减少的人-小鼠体细胞杂种中的分离情况，将编码胰岛素反应性葡萄糖转运体（命名为GLUT4）的基因定位到人类染色体17短臂的p11----p13区域。对前中期染色体的原位杂交表明GLUT4位于p13带。用Kpn I鉴定出一种常见的双等位基因限制性片段长度多态性（RFLP），该RFLP与染色体17该区域的其他多态性DNA标记的连锁提供了一组探针，这些探针将有助于研究该基因在糖尿病发病机制中的作用。
