Griffin C A, Emanuel B S, Hansen J R, Cavenee W K, Myers J C
Proc Natl Acad Sci U S A. 1987 Jan;84(2):512-6. doi: 10.1073/pnas.84.2.512.
At least 20 genes encode the structurally related collagen chains that comprise greater than 10 homo- or heterotrimeric types. Six members of this multigene family have been assigned to five chromosomes in the human genome. The two type I genes, alpha 1 and alpha 2, are located on chromosomes 17 and 7, respectively, and the alpha 1 (II) gene is located on chromosome 12. Our recent mapping of the alpha 1 (III) and alpha 2 (V) genes to the q24.3----q31 region of chromosome 2 provided the only evidence that the collagen genes are not entirely dispersed. To further determine their organization, we and others localized the alpha 1 (IV) gene to chromosome 13 and in our experiments sublocalized the gene to band q34 by in situ hybridization. Here we show the presence of the alpha 2 type IV locus also on the distal long arm of chromosome 13 by hybridizing a human alpha 2 (IV) cDNA clone to rodent-human hybrids and to metaphase chromosomes. To our knowledge, these studies represent the only demonstration of linkage between genes encoding both polypeptide chains of the same collagen type.
至少有20个基因编码结构相关的胶原链，这些胶原链构成了10多种同三聚体或异三聚体类型。这个多基因家族的6个成员已被定位到人类基因组的5条染色体上。两个I型基因，α1和α2，分别位于17号和7号染色体上，而α1（II）基因位于12号染色体上。我们最近将α1（III）和α2（V）基因定位到2号染色体的q24.3----q31区域，这是唯一表明胶原基因并非完全分散的证据。为了进一步确定它们的组织方式，我们和其他人将α1（IV）基因定位到13号染色体上，并且在我们的实验中通过原位杂交将该基因亚定位到q34带。在此，我们通过将人α2（IV）cDNA克隆与啮齿动物-人类杂种细胞和中期染色体杂交，证明α2 IV型基因座也存在于13号染色体的远端长臂上。据我们所知，这些研究是编码同一类型胶原的两条多肽链的基因之间存在连锁关系的唯一证明。
