Linked Life Data

8828037

Source:http://linkedlifedata.com/resource/pubmed/id/8828037

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
6
pubmed:dateCreated
1996-12-5
pubmed:databankReference
pubmed:abstractText
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.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Jun
pubmed:issn
1088-9051
pubmed:author
pubmed:issnType
Print
pubmed:volume
6
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
478-91
pubmed:dateRevised
2010-11-18
pubmed:meshHeading
pubmed-meshheading:8828037-Amino Acid Sequence, pubmed-meshheading:8828037-Antigens, Neoplasm, pubmed-meshheading:8828037-Biglycan, pubmed-meshheading:8828037-Blotting, Northern, pubmed-meshheading:8828037-Calcium-Transporting ATPases, pubmed-meshheading:8828037-Chromosome Mapping, pubmed-meshheading:8828037-Chromosomes, Artificial, Yeast, pubmed-meshheading:8828037-Cloning, Molecular, pubmed-meshheading:8828037-DNA, Complementary, pubmed-meshheading:8828037-DNA Primers, pubmed-meshheading:8828037-Exons, pubmed-meshheading:8828037-Extracellular Matrix Proteins, pubmed-meshheading:8828037-Gene Expression, pubmed-meshheading:8828037-Genetic Diseases, Inborn, pubmed-meshheading:8828037-Genetic Markers, pubmed-meshheading:8828037-Humans, pubmed-meshheading:8828037-Melanoma-Specific Antigens, pubmed-meshheading:8828037-Molecular Sequence Data, pubmed-meshheading:8828037-Neoplasm Proteins, pubmed-meshheading:8828037-Proteoglycans, pubmed-meshheading:8828037-Sequence Analysis, pubmed-meshheading:8828037-Sequence Homology, Amino Acid, pubmed-meshheading:8828037-Transcription, Genetic, pubmed-meshheading:8828037-X Chromosome
pubmed:year
1996
pubmed:articleTitle
Transcription mapping in a 700-kb region around the DXS52 locus in Xq28: isolation of six novel transcripts and a novel ATPase isoform (hPMCA5).
pubmed:affiliation
Deutsches Krebsforschungszentrum, Abteilung Molekulare Genomanalyse, Heidelberg, Germany. N.Heiss@DKFZ-Heidelberg.de
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't