Oettinger M A, Stanger B, Schatz D G, Glaser T, Call K, Housman D, Baltimore D
Whitehead Institute for Biomedical Research, Cambridge, MA 02142.
Immunogenetics. 1992;35(2):97-101. doi: 10.1007/BF00189518.
The recombination activating genes RAG-1 and RAG-2 are adjacent genes that act synergistically to activate variable-diversity-joining (V(D)J) recombination. Southern analysis of hybrid cell lines derived from patients with the Wilms tumor-aniridia-genitourinary defects-mental retardation (WAGR) syndrome and from mutagenized cell hybrids selected for deletions in chromosome 11 has allowed us to map the chromosomal location of the human RAG locus. The RAG locus defines a new interval of human chromosome 11p, but is not associated with any genetically mapped human disease. Guided by the chromosomal localization of the human recombination activating genes, we have also mapped the location of the mouse Rag locus.
重组激活基因RAG-1和RAG-2是相邻基因,它们协同作用以激活可变区-多样性区-连接区(V(D)J)重组。对源自患有威尔姆斯瘤-无虹膜-泌尿生殖系统缺陷-智力发育迟缓(WAGR)综合征患者的杂交细胞系,以及对经诱变选择的11号染色体有缺失的细胞杂种进行Southern分析,使我们能够确定人类RAG基因座的染色体定位。RAG基因座界定了人类11号染色体短臂上的一个新区域,但与任何经基因定位的人类疾病均无关联。在人类重组激活基因染色体定位的指引下,我们还确定了小鼠Rag基因座的位置。