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Cytogenetic location: Xp11.23 Genomic coordinates (GRCh38): X:47,600,000-50,100,000▼ Cloning and ExpressionHuman melanoma cells express several distinct anti...

Cytogenetic location: Xp11.23 Genomic coordinates (GRCh38): X:47,600,000-50,100,000

▼ Cloning and Expression
Human melanoma cells express several distinct antigens that are recognized by autologous cytolytic T lymphocytes (CTLs). One class of these antigens is encoded by genes, such as MAGE1 (MAGEA1; 300016), MAGE3 (MAGEA3; 300174), and BAGE (605167), that are expressed in a large fraction of tumors of various histologic types but are silent in normal adult tissues, except for testis. Van den Eynde et al. (1995) identified GAGE1 (300594) as a gene encoding an antigen that is present on melanoma MZ2-MEL cells and is recognized by autologous CTLs. By screening a melanoma MZ2-MEL cDNA library with a GAGE1 cDNA, they isolated cDNAs representing 5 genes with sequence similarity to GAGE1. They named the genes GAGE2 (GAGE2C; 300595), GAGE3, GAGE4 (300597), GAGE5 (300598), and GAGE6 (300599). The GAGE2 to -6 cDNAs differ mainly by single nucleotide substitutions that are scattered throughout the sequence. The deduced GAGE3 protein has 118 amino acids. RT-PCR using primers common to GAGE1 to -6 found expression of these genes in various tumors but no expression in any normal adult tissue tested except testis.

▼ Mapping
Chen et al. (2006) determined that GAGE3 is 1 of several copies of a GAGE gene repeated on chromosome Xp11.23.

Tags: Xp11.23