PARTIAL STRUCTURE OF THE HUMAN ALPHA-2(IV) COLLAGEN CHAIN AND CHROMOSOMAL LOCALIZATION OF THE GENE (COL4A2)
PARTIAL STRUCTURE OF THE HUMAN ALPHA-2(IV) COLLAGEN CHAIN AND CHROMOSOMAL LOCALIZATION OF THE GENE (COL4A2)
复制标题
DOI：
10.1007/bf00291418
复制
发表时间：
1987-12-01
期刊：
影响因子：
5.3
通讯作者：
OBRIEN, SJ
中科院分区：
文献类型：
--
作者：
KILLEN, PD;FRANCOMANO, CA;OBRIEN, SJ
我们从人胎盘文库中分离了一个2.1-kb的cDNA克隆，该克隆编码胶原IV α 2链的一部分，胶原IV是基底膜的主要结构蛋白。该DNA序列编码三螺旋结构域中的446个氨基酸加上羧基末端球状结构域的227个氨基酸。后一种结构由两个同源亚结构域组成，并且在α 1和α 2链之间高度保守。三螺旋结构域含有Gly-X-Y重复的七个中断，这些中断通常大于α 1链中的对应物。在α 2（IV）cDNA探针与α 1（IV）胶原蛋白链的基因没有交叉杂交的条件下分析来自人啮齿动物杂交细胞系的DNA。α 2链特征性的EcoRI片段与13号染色体的一致性为0.97。这一结果得到了证实，并扩展了在13 q34的基因原位定位。由于α 1（IV）基因先前已定位于13 q34，所以两个IV型胶原基因位于相同的染色体区域（13 q34），可能在基因簇中。13号染色体上IV型胶原蛋白链基因的存在排除了这些基因在成人多囊kdiney病和X连锁遗传性肾炎中的主要作用。
We have isolated a 2.1-kb cDNA clone from a human placental library encording part of the .alpha.2 chain of collagen IV, a major structural protein of basement membranes. The DNA sequence encodes 446 amino acids in the triple-helical domain plus the 227 amino acids of the carboxy-terminal globular domain. The latter structure is composed of two homologous subdomains and is highly conserved between the .alpha.1 and .alpha.2 chains. The triple-helical domain contained seven interruptions of the Gly-X-Y repeat and these interruptions were in general larger than their counterparts in the .alpha.1 chain. DNA from human rodent hybrid cell lines was analyzed under conditions in which there was no cross-hybridization of the .alpha.2(IV) cDNA probe with the gene for the .alpha.1(IV) collagen chain. An Eco RI fragment characteristic of the .alpha.2 chain had a concordance of 0.97 with chromosome 13. This result was confirmed and extended with in situ localization of the gene at 13q34. Since the .alpha.1(IV) gene has previously been localized to 13q34, the two type IV collagen genes reside in the same chromosome region (13q34), possibly in a gene cluster. The presence of the genes for type IV collagen chains on chromosome 13 excludes a primary role for these genes in adult polycystic kdiney disease and X-linked forms of hereditary nephritis.