title: Transcription mapping in a 700-kb region around the DXS52 locus in Xq28: isolation of six novel transcripts and a novel ATPase isoform (hPMCA5).
abstract: The chromosomal band Xq28 has been a focus of interest in human genetics because > 20 hereditary diseases have been mapped to this region. However, about two-thirds of the disease genes remain uncloned. The region around the polymorphic DXS52 locus (ST14) within Xq28 lies in the candidate regions for several as-yet-uncloned disease genes. So far, only four melanoma antigen genes (MAGE) and the human biglycan (BGN) gene, have been mapped within the 700-kb stretch around DXS52, suggesting that more genes may reside in this region. By combining exon trapping and direct cDNA selection methods, we sought to identify novel transcripts around the DXS52 locus. In addition to recovering the MAGE and BGN genes, we isolated and mapped six putative novel genes (XAP103-XAP108), the caltractin gene, and a gene encoding a novel Ca(2+)-transporting ATPase isoform (hPMCA5). The newly isolated sequences were considered as representing parts of putative genes if they contained at least one unique exon-trap product and/or at least one expressed sequence tag (EST) from sequence data bases and if, in addition, they showed evidence of expressed RT-OCT and/or Northern blot analysis. Our data facilitated the integration of the transcription map with the physical map around the DXS52 locus. Future analysis of the novel genes as candidates for Barth syndrome (BTHS) and chondrodysplasia punctata (CDPX2) is in progress.
authors.affiliation: Deutsches Krebsforschungszentrum, Abteilung Molekulare Genomanalyse, Heidelberg, Germany. N.Heiss@DKFZ-Heidelberg.de
authors.forename: N S
authors.initials: NS
authors.lastname: Heiss
authors.forename: U C
authors.initials: UC
authors.lastname: Rogner
authors.forename: P
authors.initials: P
authors.lastname: Kioschis
authors.forename: B
authors.initials: B
authors.lastname: Korn
authors.forename: A
authors.initials: A
authors.lastname: Poustka
mesh_terms: D000595:Amino Acid Sequence; D000951:Antigens, Neoplasm; D058578:Biglycan; D015152:Blotting, Northern; D000252:Calcium-Transporting ATPases / Q000235:genetics*; D002874:Chromosome Mapping; D018244:Chromosomes, Artificial, Yeast / Q000235:genetics; D003001:Cloning, Molecular; D017931:DNA Primers; D018076:DNA, Complementary / Q000235:genetics; D005091:Exons / Q000235:genetics; D016326:Extracellular Matrix Proteins; D015870:Gene Expression / Q000235:genetics; D030342:Genetic Diseases, Inborn / Q000235:genetics*; D005819:Genetic Markers / Q000235:genetics; D006801:Humans; D058950:Melanoma-Specific Antigens; D008969:Molecular Sequence Data; D009363:Neoplasm Proteins / Q000235:genetics; D011509:Proteoglycans / Q000235:genetics; D017421:Sequence Analysis; D017386:Sequence Homology, Amino Acid; D014158:Transcription, Genetic / Q000235:genetics*; D014960:X Chromosome / Q000235:genetics*
chemical_list: D000951:Antigens, Neoplasm; C546884:BGN protein, human; D058578:Biglycan; D017931:DNA Primers; D018076:DNA, Complementary; D016326:Extracellular Matrix Proteins; D005819:Genetic Markers; D058950:Melanoma-Specific Antigens; D009363:Neoplasm Proteins; D011509:Proteoglycans; D000252:Calcium-Transporting ATPases