Construction of a 1.2-Mb Sequence-Ready Contig of Chromosome 11q13 Encompassing the Multiple Endocrine Neoplasia Type 1 (MEN1) Gene
Identifieur interne : 00DF73 ( Main/Merge ); précédent : 00DF72; suivant : 00DF74Construction of a 1.2-Mb Sequence-Ready Contig of Chromosome 11q13 Encompassing the Multiple Endocrine Neoplasia Type 1 (MEN1) Gene
Auteurs : Irma Lemmens [Belgique] ; Jozef Merregaert [Belgique] ; Wim J. M. Van De Ven [Belgique] ; Koen Kas [Belgique] ; Chang X. Zhang ; Sophie Giraud ; Virginie Wautot [France] ; Nathalie Buisson ; Ko De Witte [France] ; Janine Salandre ; Gilbert Lenoir ; Alain Calender ; Fabienne Parente [France] ; Danielle Quincey [France] ; Anouk Courseaux [France] ; George F. Carle [France] ; Patrick Gaudray [France] ; Mireille J. De Wit [Pays-Bas] ; Cornelis J. M. Lips [Pays-Bas] ; Jo W. M. Höppener [Pays-Bas] ; Shideh Khodaei [Suède] ; Abby L. Grant [Suède] ; Günther Weber [Suède] ; Soili Kytöl [Suède] ; Bin T. Teh [Suède] ; Filip Farnebo [Suède] ; Sean Grimmond [Australie] ; Catherine Phelan [Suède] ; Catharina Larsson [Suède] ; Simon A. Forbes [Royaume-Uni] ; J. H. Duncan Bassett [Royaume-Uni] ; Anna A. J. Pannett [Royaume-Uni] ; Rajesh V. Thakker [Royaume-Uni]Source :
- Genomics [ 0888-7543 ] ; 1997.
Descripteurs français
- Wicri :
- topic : Consortium.
English descriptors
- KwdEn :
- Bacs, Candidate gene, Capn1, Centromeric, Chromosome, Clone, Consortium, Contig, Cosmid, European consortium, Fkbp2, Gene, Genet, Geno, Gnmal, Grimmond, Larsson, Locus, Men1, Men1 families, Men1 gene, Men1 patients, Microsatellite, Microsatellite polymorphisms, Nature genet, Novel genes, Pac, Pang, Plcb3, Polymorphism, Pygm, Recombinant, Sequence analysis, Telomeric, Thakker, Trump, Weber, Yacs, Zfm1.
- Teeft :
- Bacs, Candidate gene, Capn1, Centromeric, Chromosome, Clone, Consortium, Contig, Cosmid, European consortium, Fkbp2, Gene, Genet, Geno, Gnmal, Grimmond, Larsson, Locus, Men1, Men1 families, Men1 gene, Men1 patients, Microsatellite, Microsatellite polymorphisms, Nature genet, Novel genes, Pac, Pang, Plcb3, Polymorphism, Pygm, Recombinant, Sequence analysis, Telomeric, Thakker, Trump, Weber, Yacs, Zfm1.
Abstract
Abstract: Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant familial cancer syndrome characterized by parathyroid, pancreatic, and anterior pituitary tumors. The MEN1 locus has been previously localized to chromosome 11q13, and a 2-Mb gene-rich region flanked by D11S1883 and D11S449 has been defined. We have pursued studies to facilitate identification of the MEN1 gene by narrowing this critical region to a 900-kb interval between the VRF and D11S1783 loci through meiotic mapping. This was achieved by investigating 17 cosmids for microsatellite polymorphisms, which defined two novel polymorphisms at the VRF and A0138 loci, and utilizing these to characterize recombinants in MEN1 families. In addition, we have established a 1200-kb sequence-ready contig consisting of 26 cosmids, eight BACs, and eight PACs that encompass this region. The precise locations for 19 genes and three ESTs within this contig have been determined, and three gene clusters consisting of a centromeric group (VRF, FKBP2, PNG, and PLCB3), a middle group (PYGM, ZFM1, SCG1, SCG2 (which proved to be the MEN1 gene), and PPP2R5B), and a telomeric group (H4B, ANG3, ANG2, ANG1, FON, FAU, NOF, NON, and D11S2196E) were observed. These results represent a valuable transcriptional map of chromosome 11q13 that will help in the search for disease genes in this region.
Url:
DOI: 10.1006/geno.1997.4872
Links toward previous steps (curation, corpus...)
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ISTEX:7C5704D22F900DC5E2C6C9B6D4F9DEA8113651E0Le document en format XML
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<author><name sortKey="De Wit, Mireille J" sort="De Wit, Mireille J" uniqKey="De Wit M" first="Mireille J." last="De Wit">Mireille J. De Wit</name>
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<wicri:regionArea>Department of Internal Medicine, Department of Pathology, Utrecht University Hospital, H04-313, PO Box 85500, Heidelberglaan 100, 3508 GA, Utrecht</wicri:regionArea>
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<author><name sortKey="Lips, Cornelis J M" sort="Lips, Cornelis J M" uniqKey="Lips C" first="Cornelis J. M." last="Lips">Cornelis J. M. Lips</name>
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<wicri:regionArea>Department of Internal Medicine, Department of Pathology, Utrecht University Hospital, H04-313, PO Box 85500, Heidelberglaan 100, 3508 GA, Utrecht</wicri:regionArea>
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<author><name sortKey="Hoppener, Jo W M" sort="Hoppener, Jo W M" uniqKey="Hoppener J" first="Jo W. M." last="Höppener">Jo W. M. Höppener</name>
<affiliation wicri:level="3"><country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Department of Internal Medicine, Department of Pathology, Utrecht University Hospital, H04-313, PO Box 85500, Heidelberglaan 100, 3508 GA, Utrecht</wicri:regionArea>
<placeName><settlement type="city">Utrecht</settlement>
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<author><name sortKey="Khodaei, Shideh" sort="Khodaei, Shideh" uniqKey="Khodaei S" first="Shideh" last="Khodaei">Shideh Khodaei</name>
<affiliation wicri:level="3"><country xml:lang="fr">Suède</country>
<wicri:regionArea>Department of Molecular Medicine, Clinical Genetics Unit, Karolinska Hospital, CMM L8:02, S-171 76, Stockholm</wicri:regionArea>
<placeName><settlement type="city">Stockholm</settlement>
<region nuts="2">Svealand</region>
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<author><name sortKey="Grant, Abby L" sort="Grant, Abby L" uniqKey="Grant A" first="Abby L." last="Grant">Abby L. Grant</name>
<affiliation wicri:level="3"><country xml:lang="fr">Suède</country>
<wicri:regionArea>Department of Molecular Medicine, Clinical Genetics Unit, Karolinska Hospital, CMM L8:02, S-171 76, Stockholm</wicri:regionArea>
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<author><name sortKey="Weber, Gunther" sort="Weber, Gunther" uniqKey="Weber G" first="Günther" last="Weber">Günther Weber</name>
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<wicri:regionArea>Department of Molecular Medicine, Clinical Genetics Unit, Karolinska Hospital, CMM L8:02, S-171 76, Stockholm</wicri:regionArea>
<placeName><settlement type="city">Stockholm</settlement>
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<author><name sortKey="Kytol, Soili" sort="Kytol, Soili" uniqKey="Kytol S" first="Soili" last="Kytöl">Soili Kytöl</name>
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<wicri:regionArea>Department of Molecular Medicine, Endocrine Tumour Unit, Karolinska Hospital, CMM L8:01, S-171 76, Stockholm</wicri:regionArea>
<placeName><settlement type="city">Stockholm</settlement>
<region nuts="2">Svealand</region>
</placeName>
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<author><name sortKey="Teh, Bin T" sort="Teh, Bin T" uniqKey="Teh B" first="Bin T." last="Teh">Bin T. Teh</name>
<affiliation wicri:level="3"><country xml:lang="fr">Suède</country>
<wicri:regionArea>Department of Molecular Medicine, Endocrine Tumour Unit, Karolinska Hospital, CMM L8:01, S-171 76, Stockholm</wicri:regionArea>
<placeName><settlement type="city">Stockholm</settlement>
<region nuts="2">Svealand</region>
</placeName>
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<author><name sortKey="Farnebo, Filip" sort="Farnebo, Filip" uniqKey="Farnebo F" first="Filip" last="Farnebo">Filip Farnebo</name>
<affiliation wicri:level="3"><country xml:lang="fr">Suède</country>
<wicri:regionArea>Department of Molecular Medicine, Endocrine Tumour Unit, Karolinska Hospital, CMM L8:01, S-171 76, Stockholm</wicri:regionArea>
<placeName><settlement type="city">Stockholm</settlement>
<region nuts="2">Svealand</region>
</placeName>
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<author><name sortKey="Grimmond, Sean" sort="Grimmond, Sean" uniqKey="Grimmond S" first="Sean" last="Grimmond">Sean Grimmond</name>
<affiliation wicri:level="1"><country xml:lang="fr">Australie</country>
<wicri:regionArea>Human Genetics Laboratory, Queensland Institute of Medical Research, Herston, 4029, Queensland</wicri:regionArea>
<wicri:noRegion>Queensland</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Phelan, Catherine" sort="Phelan, Catherine" uniqKey="Phelan C" first="Catherine" last="Phelan">Catherine Phelan</name>
<affiliation wicri:level="3"><country xml:lang="fr">Suède</country>
<wicri:regionArea>Department of Molecular Medicine, Endocrine Tumour Unit, Karolinska Hospital, CMM L8:01, S-171 76, Stockholm</wicri:regionArea>
<placeName><settlement type="city">Stockholm</settlement>
<region nuts="2">Svealand</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Larsson, Catharina" sort="Larsson, Catharina" uniqKey="Larsson C" first="Catharina" last="Larsson">Catharina Larsson</name>
<affiliation wicri:level="3"><country xml:lang="fr">Suède</country>
<wicri:regionArea>Department of Molecular Medicine, Endocrine Tumour Unit, Karolinska Hospital, CMM L8:01, S-171 76, Stockholm</wicri:regionArea>
<placeName><settlement type="city">Stockholm</settlement>
<region nuts="2">Svealand</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Forbes, Simon A" sort="Forbes, Simon A" uniqKey="Forbes S" first="Simon A." last="Forbes">Simon A. Forbes</name>
<affiliation wicri:level="1"><country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>MRC Molecular Endocrinology Group, MRC Clinical Sciences Centre, Royal Postgraduate Medical School, Hammersmith Hospital, Du Cane Road, London, W12 0NN</wicri:regionArea>
<wicri:noRegion>W12 0NN</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Bassett, J H Duncan" sort="Bassett, J H Duncan" uniqKey="Bassett J" first="J. H. Duncan" last="Bassett">J. H. Duncan Bassett</name>
<affiliation wicri:level="1"><country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>MRC Molecular Endocrinology Group, MRC Clinical Sciences Centre, Royal Postgraduate Medical School, Hammersmith Hospital, Du Cane Road, London, W12 0NN</wicri:regionArea>
<wicri:noRegion>W12 0NN</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Pannett, Anna A J" sort="Pannett, Anna A J" uniqKey="Pannett A" first="Anna A. J." last="Pannett">Anna A. J. Pannett</name>
<affiliation wicri:level="1"><country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>MRC Molecular Endocrinology Group, MRC Clinical Sciences Centre, Royal Postgraduate Medical School, Hammersmith Hospital, Du Cane Road, London, W12 0NN</wicri:regionArea>
<wicri:noRegion>W12 0NN</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Thakker, Rajesh V" sort="Thakker, Rajesh V" uniqKey="Thakker R" first="Rajesh V." last="Thakker">Rajesh V. Thakker</name>
<affiliation wicri:level="1"><country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>MRC Molecular Endocrinology Group, MRC Clinical Sciences Centre, Royal Postgraduate Medical School, Hammersmith Hospital, Du Cane Road, London, W12 0NN</wicri:regionArea>
<wicri:noRegion>W12 0NN</wicri:noRegion>
</affiliation>
</author>
</analytic>
<monogr></monogr>
<series><title level="j">Genomics</title>
<title level="j" type="abbrev">YGENO</title>
<idno type="ISSN">0888-7543</idno>
<imprint><publisher>ELSEVIER</publisher>
<date type="published" when="1997">1997</date>
<biblScope unit="volume">44</biblScope>
<biblScope unit="issue">1</biblScope>
<biblScope unit="page" from="94">94</biblScope>
<biblScope unit="page" to="100">100</biblScope>
</imprint>
<idno type="ISSN">0888-7543</idno>
</series>
</biblStruct>
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<seriesStmt><idno type="ISSN">0888-7543</idno>
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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Bacs</term>
<term>Candidate gene</term>
<term>Capn1</term>
<term>Centromeric</term>
<term>Chromosome</term>
<term>Clone</term>
<term>Consortium</term>
<term>Contig</term>
<term>Cosmid</term>
<term>European consortium</term>
<term>Fkbp2</term>
<term>Gene</term>
<term>Genet</term>
<term>Geno</term>
<term>Gnmal</term>
<term>Grimmond</term>
<term>Larsson</term>
<term>Locus</term>
<term>Men1</term>
<term>Men1 families</term>
<term>Men1 gene</term>
<term>Men1 patients</term>
<term>Microsatellite</term>
<term>Microsatellite polymorphisms</term>
<term>Nature genet</term>
<term>Novel genes</term>
<term>Pac</term>
<term>Pang</term>
<term>Plcb3</term>
<term>Polymorphism</term>
<term>Pygm</term>
<term>Recombinant</term>
<term>Sequence analysis</term>
<term>Telomeric</term>
<term>Thakker</term>
<term>Trump</term>
<term>Weber</term>
<term>Yacs</term>
<term>Zfm1</term>
</keywords>
<keywords scheme="Teeft" xml:lang="en"><term>Bacs</term>
<term>Candidate gene</term>
<term>Capn1</term>
<term>Centromeric</term>
<term>Chromosome</term>
<term>Clone</term>
<term>Consortium</term>
<term>Contig</term>
<term>Cosmid</term>
<term>European consortium</term>
<term>Fkbp2</term>
<term>Gene</term>
<term>Genet</term>
<term>Geno</term>
<term>Gnmal</term>
<term>Grimmond</term>
<term>Larsson</term>
<term>Locus</term>
<term>Men1</term>
<term>Men1 families</term>
<term>Men1 gene</term>
<term>Men1 patients</term>
<term>Microsatellite</term>
<term>Microsatellite polymorphisms</term>
<term>Nature genet</term>
<term>Novel genes</term>
<term>Pac</term>
<term>Pang</term>
<term>Plcb3</term>
<term>Polymorphism</term>
<term>Pygm</term>
<term>Recombinant</term>
<term>Sequence analysis</term>
<term>Telomeric</term>
<term>Thakker</term>
<term>Trump</term>
<term>Weber</term>
<term>Yacs</term>
<term>Zfm1</term>
</keywords>
<keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Consortium</term>
</keywords>
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<langUsage><language ident="en">en</language>
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<front><div type="abstract" xml:lang="en">Abstract: Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant familial cancer syndrome characterized by parathyroid, pancreatic, and anterior pituitary tumors. The MEN1 locus has been previously localized to chromosome 11q13, and a 2-Mb gene-rich region flanked by D11S1883 and D11S449 has been defined. We have pursued studies to facilitate identification of the MEN1 gene by narrowing this critical region to a 900-kb interval between the VRF and D11S1783 loci through meiotic mapping. This was achieved by investigating 17 cosmids for microsatellite polymorphisms, which defined two novel polymorphisms at the VRF and A0138 loci, and utilizing these to characterize recombinants in MEN1 families. In addition, we have established a 1200-kb sequence-ready contig consisting of 26 cosmids, eight BACs, and eight PACs that encompass this region. The precise locations for 19 genes and three ESTs within this contig have been determined, and three gene clusters consisting of a centromeric group (VRF, FKBP2, PNG, and PLCB3), a middle group (PYGM, ZFM1, SCG1, SCG2 (which proved to be the MEN1 gene), and PPP2R5B), and a telomeric group (H4B, ANG3, ANG2, ANG1, FON, FAU, NOF, NON, and D11S2196E) were observed. These results represent a valuable transcriptional map of chromosome 11q13 that will help in the search for disease genes in this region.</div>
</front>
</TEI>
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