Nguyen V C, Tosi M, Gross M S, Cohen-Haguenauer O, Jegou-Foubert C, de Tand M F, Meo T, Frézal J
Clinique de Recherches de Génétique Médicale (INSERM U12), Hôpital des Enfants Malades, Paris, France.
Hum Genet. 1988 Apr;78(4):363-8. doi: 10.1007/BF00291737.
C1r and C1s are distinct, but structurally and functionally similar, serine protease zymogens responsible for the enzymatic activity of the first component of complement (C1). Recent comparisons indicate a significant degree of sequence similarity between C1r and C1s and support the hypothesis that they are related by gene duplication. Complementary DNA probes for human C1r and C1s do not cross-hybridize even at mild stringency conditions and are therefore gene-specific. Using a panel of 25 human-rodent cell hybrids, we have independently assigned the C1r and the C1s genes to chromosome 12. In situ hybridization analyses were consistent with these assignments, showing in addition that both C1r and C1s are located on the short arm of the chromosome in the region p13. These data suggest that the homologous C1r and C1s genes have remained closely linked after duplication of a common ancestor. The C1r and C1s loci also provide useful polymorphic DNA markers for the short arm of chromosome 12.
C1r和C1s是不同的,但在结构和功能上相似,它们是丝氨酸蛋白酶原,负责补体第一成分(C1)的酶活性。最近的比较表明,C1r和C1s之间存在显著程度的序列相似性,并支持它们通过基因复制相关的假说。用于人类C1r和C1s的互补DNA探针即使在温和的严格条件下也不会交叉杂交,因此具有基因特异性。利用一组25个人-啮齿动物细胞杂种,我们已将C1r和C1s基因独立定位到12号染色体上。原位杂交分析与这些定位结果一致,此外还显示C1r和C1s都位于染色体短臂的p13区域。这些数据表明,同源的C1r和C1s基因在共同祖先基因复制后仍紧密相连。C1r和C1s基因座也为12号染色体短臂提供了有用的多态性DNA标记。