Alternative titles; symbols
HGNC Approved Gene Symbol: BAGE
Cytogenetic location: 21p11.2 Genomic coordinates (GRCh38) : 21:7,000,001-10,900,000
BAGE, along with members of the MAGE (see MAGEA1, 300016) and GAGE (300595) families, encodes antigens recognized by cytotoxic T lymphocytes. These antigens are also known as CT antigens (see 300156) for their expression in cancer cells and testis (summary by Boel et al., 1995).
To identify new CT antigen genes, Boel et al. (1995) screened a cDNA library derived from the melanoma clonal subline, MZ2-MEL.43, which was lysed by the cytolytic T lymphocyte clone CTL 82/82. They transfected COS-7 cells with the MZ2-MEL.43 cDNA library, added CTL 82/82 to the culture, and screened for pools of cells stimulated to release tumor necrosis factor (TNF; 191160). They isolated a cDNA, BAGE, encoding a 43-amino acid peptide unrelated to the MAGE family. Southern blot analysis indicated that BAGE belongs to a family of several related genes. Northern analysis of polyA(+) RNA from MZ2-MEL.43 cells identified a 1-kb and a 2.4-kb transcript. Similar to other CT antigen genes, expression of BAGE in normal tissues was observed only in adult testis. BAGE was expressed in 22% of melanomas, 30% of infiltrating bladder carcinomas, 10% of mammary carcinomas, 8% of head and neck squamous cell carcinomas, and 6% of non-small cell lung carcinomas.
By PCR of human melanoma and testis cDNA libraries, Ruault et al. (2002) amplified 6 BAGE1 splice variants that differed only in their 3-prime ends.
Ruault et al. (2002) determined that the BAGE gene contains 7 exons.
By FISH, somatic cell hybrid, and genomic sequence analyses, Ruault et al. (2002) determined that the BAGE gene maps to chromosome 13. However, Hartz (2017) mapped the BAGE gene to chromosome 21p11.2 based on an alignment of the BAGE sequence (GenBank U19180) with the genomic sequence (GRCh38).
Ruault et al. (2003) determined that complex chromosome rearrangements during hominid evolution generated the BAGE gene family. Juxtacentromeric reshuffling of the MLL3 gene (KMT2C; 606833) on chromosome 7 generated the ancestral BAGE gene, and juxtacentromeric movements and/or acrocentric exchanges expanded the BAGE family. Purifying selection acted on the BAGE family to eliminate deleterious amino acid changes.
Boel, P., Wildmann, C., Sensi, M. L., Brasseur, R., Renauld, J.-C., Coulie, P., Boon, T., van der Bruggen, P. BAGE: a new gene encoding an antigen recognized on human melanomas by cytolytic T lymphocytes. Immunity 2: 167-175, 1995. [PubMed: 7895173] [Full Text: https://doi.org/10.1016/s1074-7613(95)80053-0]
Hartz, P. A. Personal Communication. Baltimore, Md. 11/15/2017.
Ruault, M., van der Bruggen, P., Brun, M.-E., Boyle, S., Roizes, G., De Sario, A. New BAGE (B melanoma antigen) genes mapping to the juxtacentromeric regions of human chromosomes 13 and 21 have a cancer/testis expression profile. Europ. J. Hum. Genet. 10: 833-840, 2002. [PubMed: 12461691] [Full Text: https://doi.org/10.1038/sj.ejhg.5200891]
Ruault, M., Ventura, M., Galtier, N., Brun, M.-E., Archidiacono, N., Roizes, G., De Sario, A. BAGE genes generated by juxtacentromeric reshuffling in the Hominidae lineage are under selective pressure. Genomics 81: 391-399, 2003. [PubMed: 12676563] [Full Text: https://doi.org/10.1016/s0888-7543(03)00025-9]