F. Muscatelli et al., ISOLATION AND CHARACTERIZATION OF A MAGE GENE FAMILY IN THE XP21.3 REGION, Proceedings of the National Academy of Sciences of the United Statesof America, 92(11), 1995, pp. 4987-4991
A human gene with strong homology to the MAGE gene family located in X
qZ7-qter has been isolated by using exon-trapping of cosmids in the Xp
21.3 region. We have mapped and sequenced cDNA and genomic clones corr
esponding 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 tumo
r tissues tested. However, the gene and predicted protein structure ar
e conserved, suggesting a similar function, MAGE-Xp is located in the
160-kb critical interval defined for the locus involved in sex determi
nation within Xp21 and is 50 kb distal to the DAX-1 gene, which is res
ponsible for X-chromosome-linked adrenal hypoplasia congenita.