Tolstoshev P, Crystal R G
J Invest Dermatol. 1982 Jul;79 Suppl 1:60s-64s. doi: 10.1111/1523-1747.ep12545778.
A number of DNA sequences specific for collagen messenger RNAs and genes have been isolated, cloned in bacterial plasmids or bacteriophages, and studied in detail. Such sequences have been used to study regulatory mechanisms underlying the production of type I collagen in fibroblasts in culture, fibroblasts after viral transformation, and in tissues and organs during embryonic and fetal development. It is clear that a variety of mechanisms, transcriptional, translational and post-translational, are used by cells to regulate collagen production. The study of isolated collagen gene fragments coding for the alpha 2 collagen chain in sheep and chick have shown that many genes are very large, and are interrupted by as many as 50 intervening sequences. Additionally, the structure of the genes in the regions coding for the helical regions of the protein provides evidence that collagen genes may have arisen from the reduplication of a DNA segment containing a primordial collagen gene sequence. The availability of specific cloned collagen gene sequences will allow the precise chromosomal location of the collagen genes as well as the number and the linkage relationships between these genes. In addition, genetic disorders of connective tissue where alterations in collagen structure are implicated will now be amenable to analysis at the DNA level.
许多特异于胶原蛋白信使核糖核酸和基因的DNA序列已被分离出来，克隆到细菌质粒或噬菌体中，并进行了详细研究。这些序列已被用于研究培养的成纤维细胞、病毒转化后的成纤维细胞以及胚胎和胎儿发育过程中的组织和器官中I型胶原蛋白产生的调控机制。很明显，细胞利用多种机制，包括转录、翻译和翻译后机制，来调节胶原蛋白的产生。对绵羊和鸡中编码α2胶原蛋白链的分离胶原蛋白基因片段的研究表明，许多基因非常大，并且被多达50个间隔序列所中断。此外，蛋白质螺旋区域编码区的基因结构提供了证据，表明胶原蛋白基因可能起源于包含原始胶原蛋白基因序列的DNA片段的重复。特定克隆的胶原蛋白基因序列的可用性将使我们能够精确确定胶原蛋白基因在染色体上的位置，以及这些基因的数量和连锁关系。此外，涉及胶原蛋白结构改变的结缔组织遗传疾病现在将能够在DNA水平上进行分析。
