{"database":"biostudies-other","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["92(11)"],"submitter":["Muscatelli F"],"journal":["Proceedings of the National Academy of Sciences of the United States of America"],"pagination":["4987-91"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC41832"],"abstract":["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."],"repository":["biostudies-other"],"pmcid":["PMC41832"],"data_source":["Europe PMC"],"pubmed_authors":["Stafford AN","Walker AP","Muscatelli F","De Plaen E","Monaco AP"],"additional_accession":[]},"is_claimable":false,"name":"Isolation and characterization of a MAGE gene family in the Xp21.3 region.","description":"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.","dates":{"release":"1995-01-01T00:00:00Z","publication":"1995 May","modification":"2019-03-27T00:18:04Z","creation":"2019-03-27T00:18:04Z"},"accession":"S-EPMC41832","cross_references":{"gen":["X82539"],"pubmed":["7761436"],"doi":["10.1073/pnas.92.11.4987 "]}}