Sun Y H, Goodenow R S, Hood L
J Exp Med. 1985 Nov 1;162(5):1588-602. doi: 10.1084/jem.162.5.1588.
The H-2dm1 mutation is unique among all described H-2 mutations in that two transplantation antigens, the H-2Dd and the H-2Ld, are affected. Here, we show that the mutant gene, Ddm1, is formed by fusion of the 5' part of the Dd gene and the 3' part of the Ld gene, with the region in between deleted. The recombination junction is located in the third exon, which encodes the alpha 2 region of the protein. When the hybrid gene is transfected into mouse L cells, serological and biochemical analyses indicate the Ddm1 antigen expressed in the transformant line is identical to the mutant molecule in dm1 spleen cells. These results demonstrate that the D/L hybrid gene is most likely responsible for the dm1 mutant phenotype.
H-2dm1突变在所有已描述的H-2突变中是独特的,因为两种移植抗原H-2Dd和H-2Ld受到影响。在此,我们表明突变基因Ddm1是由Dd基因的5'部分与Ld基因的3'部分融合形成的,中间区域缺失。重组连接点位于第三个外显子,该外显子编码蛋白质的α2区域。当将杂交基因转染到小鼠L细胞中时,血清学和生化分析表明转化细胞系中表达的Ddm1抗原与dm1脾细胞中的突变分子相同。这些结果表明D/L杂交基因很可能是dm1突变表型的原因。