Cloning, expression, and physical mapping of the 3beta-hydroxysteroid dehydrogenase gene cluster (HSD3BP1-HSD3BP5) in human.

2.50
Hdl Handle:
http://hdl.handle.net/10541/91400
Title:
Cloning, expression, and physical mapping of the 3beta-hydroxysteroid dehydrogenase gene cluster (HSD3BP1-HSD3BP5) in human.
Authors:
McBride, Martin W; McVie, Alison J; Burridge, Sandra M; Brintnell, Bill; Craig, Nicola; Wallace, A Michael; Wilson, Richard H; Varley, Jennifer; Sutcliffe, Roger G
Abstract:
Seven 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.
Affiliation:
Institute of Biomedical and Life Sciences, Glasgow University, Glasgow, G12 8QQ, Scotland.
Citation:
Cloning, expression, and physical mapping of the 3beta-hydroxysteroid dehydrogenase gene cluster (HSD3BP1-HSD3BP5) in human. 1999, 61 (3):277-84 Genomics
Journal:
Genomics
Issue Date:
1-Nov-1999
URI:
http://hdl.handle.net/10541/91400
DOI:
10.1006/geno.1999.5459
PubMed ID:
10552929
Type:
Article
Language:
en
ISSN:
0888-7543
Appears in Collections:
All Paterson Institute for Cancer Research

Full metadata record

DC FieldValue Language
dc.contributor.authorMcBride, Martin Wen
dc.contributor.authorMcVie, Alison Jen
dc.contributor.authorBurridge, Sandra Men
dc.contributor.authorBrintnell, Billen
dc.contributor.authorCraig, Nicolaen
dc.contributor.authorWallace, A Michaelen
dc.contributor.authorWilson, Richard Hen
dc.contributor.authorVarley, Jenniferen
dc.contributor.authorSutcliffe, Roger Gen
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.en
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

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