Muscatelli F, Walker A P, De Plaen E, Stafford A N, Monaco A P
Imperial Cancer Research Fund Laboratories, John Radcliffe Hospital, Oxford, United Kingdom.
Proc Natl Acad Sci U S A. 1995 May 23;92(11):4987-91. doi: 10.1073/pnas.92.11.4987.
A human gene with strong homology to the MAGE gene family located in Xq27-qter has been isolated by using exon-trapping of cosmids in the Xp21.3 region. We have mapped and sequenced cDNA and genomic clones corresponding to this gene, MAGE-Xp, and shown that the last exon contains the open reading frame and is present in a minimum of five copies in a 30-kb interval. MAGE-Xp is expressed only in testis and, unlike the Xq27-qter MAGE genes, it is not expressed in any of 12 different tumor tissues tested. However, the gene and predicted protein structure are conserved, suggesting a similar function. MAGE-Xp is located in the 160-kb critical interval defined for the locus involved in sex determination within Xp21 and is 50 kb distal to the DAX-1 gene, which is responsible for X-chromosome-linked adrenal hypoplasia congenita.
通过对Xp21.3区域黏粒进行外显子捕获，分离出了一个与位于Xq27 - qter的MAGE基因家族具有高度同源性的人类基因。我们已对与该基因（MAGE - Xp）对应的cDNA和基因组克隆进行了定位和测序，并表明最后一个外显子包含开放阅读框，且在30 kb的区间内至少以五个拷贝存在。MAGE - Xp仅在睾丸中表达，与Xq27 - qter的MAGE基因不同，在所检测的12种不同肿瘤组织中均未表达。然而，该基因和预测的蛋白质结构是保守的，表明其功能相似。MAGE - Xp位于为Xp21内参与性别决定的基因座定义的160 kb关键区间内，且位于DAX - 1基因下游50 kb处，DAX - 1基因负责X染色体连锁的先天性肾上腺发育不全。
