Cheah K S, Stoker N G, Griffin J R, Grosveld F G, Solomon E
Proc Natl Acad Sci U S A. 1985 May;82(9):2555-9. doi: 10.1073/pnas.82.9.2555.
The gene contained in the human cosmid clone CosHcol1, previously designated an alpha 1(I) collagen-like gene, has now been identified. CosHcol1 hybridizes strongly to a single 5.9-kilobase mRNA species present only in tissue in which type II collagen is expressed. DNA sequence analysis shows that this clone is highly homologous to the chicken alpha 1(II) collagen gene. These data together suggest that CosHcol1 contains the human alpha 1(II) collagen gene COL2A1. The clone appears to contain the whole gene (30 kilobases in length) and will be extremely useful in the study of cartilage development and for identifying those inherited chondrodystrophies in which defects occur in this gene.
人类黏粒克隆CosHcol1中所含的基因,先前被指定为α1(I)型胶原样基因,现已被鉴定出来。CosHcol1与仅在表达II型胶原的组织中存在的一种单一的5.9千碱基mRNA种类强烈杂交。DNA序列分析表明,该克隆与鸡α1(II)型胶原基因高度同源。这些数据共同表明,CosHcol1包含人类α1(II)型胶原基因COL2A1。该克隆似乎包含整个基因(长度为30千碱基),在软骨发育研究以及鉴定该基因发生缺陷的遗传性软骨发育不良方面将极为有用。