Genes of the melanoma-associated antigen (MAGE) family are characterized by
the expression of tumor antigens on a malignant melanoma recognized by aut
ologous cytolytic T lymphocytes. We have previously identified novel member
s of the MAGE gene family expressed in human glioma and named them MAGE-Ela
-c. In the present study, we have revealed the genomic structure of MAGE-E1
by sequence analysis of a human chromosome bacterial artificial chromosome
clone containing the MAGE-E1 gene. The MAGE-E1 gene is composed of 13 exon
s, and three of these (exon 2, exon 3 and exon 12) are alternatively splice
d in each variant (Ela-c). The open reading frame encoding the MAGE-E1 pept
ides initiates in exon 2 and ends in exon 13. We have also demonstrated tha
t the MAGE-E1 gene is located in Xp11 through the analysis of radiation hyb
rid panels. The genomic structure of MAGE-E1 is markedly similar to that of
MAGE-D and its chromosomal locus is also identical to that of MAGE-D, but
these features contrast with those of other MAGEs. These results suggest th
at MAGE-D and -E1 may be evolutionarily distant from other members of the M
AGE family, and the two may be ancestral genes for the others. (C) 2001 Els
evier Science B.V. All rights reserved.