Greenspan D S, Byers M G, Eddy R L, Cheng W, Jani-Sait S, Shows T B
Department of Pathology, University of Wisconsin, Madison 53706.
Genomics. 1992 Apr;12(4):836-7. doi: 10.1016/0888-7543(92)90320-r.
Type V collagen is a fibrillar collagen that is widely distributed in tissues as a minor component of extracellular matrix and is usually composed of one pro alpha 2 (V) and two pro alpha 1 (V) chains. In this report, recently isolated cDNA and genomic clones, which encode the pro alpha 1 (V) chain, are used as probes for hybridization to filter-bound DNA from a panel of human-mouse hybrid cell lines and for in situ hybridization to metaphase chromosomes. These studies establish the chromosomal location of the COL5A1 gene, which encodes the pro alpha 1 (V) chain, within segment 9q34.2----q34.3. These findings add to the previously characterized dispersion of collagen genes in the human genome, as this is the first example of a collagen locus on chromosome 9. In addition, these studies place COL5A1 near the locus for the genetic disorder, nail-patella syndrome (hereditary osteo-onychodysplasia), which also maps to 9q34.
V型胶原是一种纤维状胶原，作为细胞外基质的次要成分广泛分布于组织中，通常由一条α2（V）前肽链和两条α1（V）前肽链组成。在本报告中，最近分离出的编码α1（V）前肽链的cDNA和基因组克隆被用作探针，用于与一组人-鼠杂交细胞系的滤膜结合DNA进行杂交，并用于中期染色体的原位杂交。这些研究确定了编码α1（V）前肽链的COL5A1基因在9q34.2----q34.3区段内的染色体定位。这些发现进一步丰富了先前已确定的胶原基因在人类基因组中的分散情况，因为这是9号染色体上胶原基因座的首个实例。此外，这些研究表明COL5A1基因位于遗传性疾病指甲-髌骨综合征（遗传性骨-甲发育不良）的基因座附近，该综合征也定位于9q34。
