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dc.contributor.authorMcBride, Martin W
dc.contributor.authorMcVie, Alison J
dc.contributor.authorBurridge, Sandra M
dc.contributor.authorBrintnell, Bill
dc.contributor.authorCraig, Nicola
dc.contributor.authorWallace, A Michael
dc.contributor.authorWilson, Richard H
dc.contributor.authorVarley, Jennifer
dc.contributor.authorSutcliffe, Roger G
dc.date.accessioned2010-02-08T15:42:45Z
dc.date.available2010-02-08T15:42:45Z
dc.date.issued1999-11-01
dc.identifier.citationCloning, expression, and physical mapping of the 3beta-hydroxysteroid dehydrogenase gene cluster (HSD3BP1-HSD3BP5) in human. 1999, 61 (3):277-84 Genomicsen
dc.identifier.issn0888-7543
dc.identifier.pmid10552929
dc.identifier.doi10.1006/geno.1999.5459
dc.identifier.urihttp://hdl.handle.net/10541/91400
dc.description.abstractSeven members of the human 3beta-hydroxysteroid dehydrogenase (3beta-HSD) gene family (HGMW-approved symbols HSD3BP1-HSD3BP5) have been cloned and physically mapped. HSD3B1 and 2 express 3beta-HSD enzymes; HSD3Bpsi1-5 are unprocessed pseudogenes that are closely related to HSD3B1 and 2 but contain no corresponding open reading frames. mRNA is expressed from psi4 and psi5 in several tissues, but with altered splice sites that disrupt reading frames. A 0.5-Mb contig of 3 yeast artificial chromosome and 32 bacterial artificial chromosome genomic clones contained no additional members of the gene family. The seven genes and pseudogenes mapped within 230 kb in the order HSD3Bpsi5-psi4-psi3-HSD3B1-psi1-psi2 -HSD3B2. HSD3B1 and 2 are in direct repeat, 100 kb apart. Six HSD3B2 mutations involve substitutions that are present in several of the pseudogenes. In four cases, mutations arose in CpG sites that are conserved within the gene cluster. The tendency for CpG sites to mutate by transition provides an adequate explanation for these HSD3B2 mutations, which are unlikely to be due to recombination or conversion within the gene family.
dc.language.isoenen
dc.subject.mesh3-Hydroxysteroid Dehydrogenases
dc.subject.meshBase Sequence
dc.subject.meshBlotting, Southern
dc.subject.meshChromosomes, Artificial, Yeast
dc.subject.meshChromosomes, Bacterial
dc.subject.meshCloning, Molecular
dc.subject.meshDNA Primers
dc.subject.meshGenomic Library
dc.subject.meshHumans
dc.subject.meshMolecular Sequence Data
dc.subject.meshMultigene Family
dc.subject.meshMutation
dc.subject.meshPhylogeny
dc.subject.meshPhysical Chromosome Mapping
dc.subject.meshPolymerase Chain Reaction
dc.subject.meshReverse Transcriptase Polymerase Chain Reaction
dc.titleCloning, expression, and physical mapping of the 3beta-hydroxysteroid dehydrogenase gene cluster (HSD3BP1-HSD3BP5) in human.en
dc.typeArticleen
dc.contributor.departmentInstitute of Biomedical and Life Sciences, Glasgow University, Glasgow, G12 8QQ, Scotland.en
dc.identifier.journalGenomicsen
html.description.abstractSeven members of the human 3beta-hydroxysteroid dehydrogenase (3beta-HSD) gene family (HGMW-approved symbols HSD3BP1-HSD3BP5) have been cloned and physically mapped. HSD3B1 and 2 express 3beta-HSD enzymes; HSD3Bpsi1-5 are unprocessed pseudogenes that are closely related to HSD3B1 and 2 but contain no corresponding open reading frames. mRNA is expressed from psi4 and psi5 in several tissues, but with altered splice sites that disrupt reading frames. A 0.5-Mb contig of 3 yeast artificial chromosome and 32 bacterial artificial chromosome genomic clones contained no additional members of the gene family. The seven genes and pseudogenes mapped within 230 kb in the order HSD3Bpsi5-psi4-psi3-HSD3B1-psi1-psi2 -HSD3B2. HSD3B1 and 2 are in direct repeat, 100 kb apart. Six HSD3B2 mutations involve substitutions that are present in several of the pseudogenes. In four cases, mutations arose in CpG sites that are conserved within the gene cluster. The tendency for CpG sites to mutate by transition provides an adequate explanation for these HSD3B2 mutations, which are unlikely to be due to recombination or conversion within the gene family.


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