Construction of a 1.2-Mb sequence-ready contig of chromosome 11q13 encompassing the multiple endocrine neoplasia type 1 (MEN1) gene : The European consortium on MEN1
Identifieur interne : 006747 ( PascalFrancis/Curation ); précédent : 006746; suivant : 006748Construction of a 1.2-Mb sequence-ready contig of chromosome 11q13 encompassing the multiple endocrine neoplasia type 1 (MEN1) gene : The European consortium on MEN1
Auteurs : I. Lemmens [Belgique] ; J. Merregaert [Belgique] ; W. J. M. Van De Ven [Belgique] ; K. Kas [Belgique] ; C. X. Zhang [France] ; S. Giraud [France] ; V. Wautot [France] ; N. Buisson [France] ; K. De Witte [France] ; J. Salandre [France] ; G. Lenoir [France] ; A. Calender [France] ; F. Parente [France] ; D. Quincey [France] ; A. Courseaux [France] ; G. F. Carle [France] ; P. Gaudray [France] ; M. J. De Wit [Pays-Bas] ; C. J. M. Lips [Pays-Bas] ; J. W. M. Höppener [Pays-Bas] ; S. Khodaei [Suède] ; A. L. Grant [Suède] ; G. Weber [Suède] ; S. Kytöl [Belgique, Suède, Finlande] ; B. T. Teh [Belgique, Suède] ; F. Farnebo [Belgique, Suède] ; S. Grimmond [Australie] ; C. Phelan [Belgique, Suède] ; C. Larsson [Belgique, Suède] ; S. A. Forbes [Royaume-Uni] ; J. H. D. Bassett [Royaume-Uni] ; A. A. J. Pannett [Royaume-Uni] ; R. V. Thakker [Royaume-Uni]Source :
- Genomics : (San Diego, CA) [ 0888-7543 ] ; 1997.
Descripteurs français
- Pascal (Inist)
- Wicri :
- topic : Homme.
English descriptors
- KwdEn :
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 DllS449 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 DllS1783 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 DllS2196E) were observed. These results represent a valuable transcriptional map of chromosome llq13 that will help in the search for disease genes in this region.
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Pascal:97-0469877Le document en format XML
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<author><name sortKey="Grimmond, S" sort="Grimmond, S" uniqKey="Grimmond S" first="S." last="Grimmond">S. Grimmond</name>
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<country>Australie</country>
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<author><name sortKey="Phelan, C" sort="Phelan, C" uniqKey="Phelan C" first="C." last="Phelan">C. Phelan</name>
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</affiliation>
<affiliation wicri:level="1"><inist:fA14 i1="08"><s1>Department of Molecular Medicine, Endocrine Tumour Unit, Karolinska Hospital, CMM L8:01</s1>
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<author><name sortKey="Forbes, S A" sort="Forbes, S A" uniqKey="Forbes S" first="S. A." last="Forbes">S. A. Forbes</name>
<affiliation wicri:level="1"><inist:fA14 i1="11"><s1>MRC Molecular Endocrinology Group, MRC Clinical Sciences Centre, Royal Postgraduate Medical School, Hammersmith Hospital, Du Cane Road</s1>
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<author><name sortKey="Bassett, J H D" sort="Bassett, J H D" uniqKey="Bassett J" first="J. H. D." last="Bassett">J. H. D. Bassett</name>
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</author>
<author><name sortKey="Pannett, A A J" sort="Pannett, A A J" uniqKey="Pannett A" first="A. A. J." last="Pannett">A. A. J. Pannett</name>
<affiliation wicri:level="1"><inist:fA14 i1="11"><s1>MRC Molecular Endocrinology Group, MRC Clinical Sciences Centre, Royal Postgraduate Medical School, Hammersmith Hospital, Du Cane Road</s1>
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<sZ>30 aut.</sZ>
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<country>Royaume-Uni</country>
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</author>
<author><name sortKey="Thakker, R V" sort="Thakker, R V" uniqKey="Thakker R" first="R. V." last="Thakker">R. V. Thakker</name>
<affiliation wicri:level="1"><inist:fA14 i1="11"><s1>MRC Molecular Endocrinology Group, MRC Clinical Sciences Centre, Royal Postgraduate Medical School, Hammersmith Hospital, Du Cane Road</s1>
<s2>London W12 0NN</s2>
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<sZ>30 aut.</sZ>
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<country>Royaume-Uni</country>
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</titleStmt>
<publicationStmt><idno type="wicri:source">INIST</idno>
<idno type="inist">97-0469877</idno>
<date when="1997">1997</date>
<idno type="stanalyst">PASCAL 97-0469877 INIST</idno>
<idno type="RBID">Pascal:97-0469877</idno>
<idno type="wicri:Area/PascalFrancis/Corpus">006922</idno>
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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Construction of a 1.2-Mb sequence-ready contig of chromosome 11q13 encompassing the multiple endocrine neoplasia type 1 (MEN1) gene : The European consortium on MEN1</title>
<author><name sortKey="Lemmens, I" sort="Lemmens, I" uniqKey="Lemmens I" first="I." last="Lemmens">I. Lemmens</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Laboratory for Molecular Oncology & Flanders Interuniversity Institute for Biotechnology, Centre for Human Genetics, KU Leuven, Herestraat 49</s1>
<s2>3000 Leuven</s2>
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<country>Belgique</country>
</affiliation>
</author>
<author><name sortKey="Merregaert, J" sort="Merregaert, J" uniqKey="Merregaert J" first="J." last="Merregaert">J. Merregaert</name>
<affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Laboratory of Molecular Biotechnology, Department of Biochemistry, University of Antwerp, Universiteitsplein 1</s1>
<s2>2610 Wilrijk</s2>
<s3>BEL</s3>
<sZ>2 aut.</sZ>
</inist:fA14>
<country>Belgique</country>
</affiliation>
</author>
<author><name sortKey="Van De Ven, W J M" sort="Van De Ven, W J M" uniqKey="Van De Ven W" first="W. J. M." last="Van De Ven">W. J. M. Van De Ven</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Laboratory for Molecular Oncology & Flanders Interuniversity Institute for Biotechnology, Centre for Human Genetics, KU Leuven, Herestraat 49</s1>
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<author><name sortKey="Kas, K" sort="Kas, K" uniqKey="Kas K" first="K." last="Kas">K. Kas</name>
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</affiliation>
</author>
<author><name sortKey="Zhang, C X" sort="Zhang, C X" uniqKey="Zhang C" first="C. X." last="Zhang">C. X. Zhang</name>
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</inist:fA14>
<country>France</country>
</affiliation>
<affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Laboratory of Genetics and Cancer, CNRS UMRS641, Medical University Claude Bernard Lyon I</s1>
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</affiliation>
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<author><name sortKey="Giraud, S" sort="Giraud, S" uniqKey="Giraud S" first="S." last="Giraud">S. Giraud</name>
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</affiliation>
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<author><name sortKey="Wautot, V" sort="Wautot, V" uniqKey="Wautot V" first="V." last="Wautot">V. Wautot</name>
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</affiliation>
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<author><name sortKey="Buisson, N" sort="Buisson, N" uniqKey="Buisson N" first="N." last="Buisson">N. Buisson</name>
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</affiliation>
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</affiliation>
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<author><name sortKey="De Witte, K" sort="De Witte, K" uniqKey="De Witte K" first="K." last="De Witte">K. De Witte</name>
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</affiliation>
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<author><name sortKey="Salandre, J" sort="Salandre, J" uniqKey="Salandre J" first="J." last="Salandre">J. Salandre</name>
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<country>France</country>
</affiliation>
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<author><name sortKey="Lenoir, G" sort="Lenoir, G" uniqKey="Lenoir G" first="G." last="Lenoir">G. Lenoir</name>
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<country>France</country>
</affiliation>
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<country>France</country>
</affiliation>
</author>
<author><name sortKey="Calender, A" sort="Calender, A" uniqKey="Calender A" first="A." last="Calender">A. Calender</name>
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<country>France</country>
</affiliation>
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</affiliation>
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<author><name sortKey="Parente, F" sort="Parente, F" uniqKey="Parente F" first="F." last="Parente">F. Parente</name>
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<country>France</country>
</affiliation>
</author>
<author><name sortKey="Quincey, D" sort="Quincey, D" uniqKey="Quincey D" first="D." last="Quincey">D. Quincey</name>
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</affiliation>
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<author><name sortKey="Courseaux, A" sort="Courseaux, A" uniqKey="Courseaux A" first="A." last="Courseaux">A. Courseaux</name>
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<country>France</country>
</affiliation>
</author>
<author><name sortKey="Carle, G F" sort="Carle, G F" uniqKey="Carle G" first="G. F." last="Carle">G. F. Carle</name>
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</affiliation>
</author>
<author><name sortKey="Gaudray, P" sort="Gaudray, P" uniqKey="Gaudray P" first="P." last="Gaudray">P. Gaudray</name>
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</author>
<author><name sortKey="De Wit, M J" sort="De Wit, M J" uniqKey="De Wit M" first="M. J." last="De Wit">M. J. De Wit</name>
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<author><name sortKey="Lips, C J M" sort="Lips, C J M" uniqKey="Lips C" first="C. J. M." last="Lips">C. J. M. Lips</name>
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<author><name sortKey="Hoppener, J W M" sort="Hoppener, J W M" uniqKey="Hoppener J" first="J. W. M." last="Höppener">J. W. M. Höppener</name>
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<author><name sortKey="Khodaei, S" sort="Khodaei, S" uniqKey="Khodaei S" first="S." last="Khodaei">S. Khodaei</name>
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<sZ>21 aut.</sZ>
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<author><name sortKey="Grant, A L" sort="Grant, A L" uniqKey="Grant A" first="A. L." last="Grant">A. L. Grant</name>
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<author><name sortKey="Weber, G" sort="Weber, G" uniqKey="Weber G" first="G." last="Weber">G. Weber</name>
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<s2>171 76 Stockholm</s2>
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<author><name sortKey="Kytol, S" sort="Kytol, S" uniqKey="Kytol S" first="S." last="Kytöl">S. Kytöl</name>
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<s2>171 76 Stockholm</s2>
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<author><name sortKey="Forbes, S A" sort="Forbes, S A" uniqKey="Forbes S" first="S. A." last="Forbes">S. A. Forbes</name>
<affiliation wicri:level="1"><inist:fA14 i1="11"><s1>MRC Molecular Endocrinology Group, MRC Clinical Sciences Centre, Royal Postgraduate Medical School, Hammersmith Hospital, Du Cane Road</s1>
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<author><name sortKey="Pannett, A A J" sort="Pannett, A A J" uniqKey="Pannett A" first="A. A. J." last="Pannett">A. A. J. Pannett</name>
<affiliation wicri:level="1"><inist:fA14 i1="11"><s1>MRC Molecular Endocrinology Group, MRC Clinical Sciences Centre, Royal Postgraduate Medical School, Hammersmith Hospital, Du Cane Road</s1>
<s2>London W12 0NN</s2>
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<author><name sortKey="Thakker, R V" sort="Thakker, R V" uniqKey="Thakker R" first="R. V." last="Thakker">R. V. Thakker</name>
<affiliation wicri:level="1"><inist:fA14 i1="11"><s1>MRC Molecular Endocrinology Group, MRC Clinical Sciences Centre, Royal Postgraduate Medical School, Hammersmith Hospital, Du Cane Road</s1>
<s2>London W12 0NN</s2>
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<series><title level="j" type="main">Genomics : (San Diego, CA)</title>
<title level="j" type="abbreviated">Genomics : (S. Diego CA)</title>
<idno type="ISSN">0888-7543</idno>
<imprint><date when="1997">1997</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
<seriesStmt><title level="j" type="main">Genomics : (San Diego, CA)</title>
<title level="j" type="abbreviated">Genomics : (S. Diego CA)</title>
<idno type="ISSN">0888-7543</idno>
</seriesStmt>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Chromosome C11</term>
<term>Contig</term>
<term>Expressed sequence tag</term>
<term>Gene cluster</term>
<term>Genetic mapping</term>
<term>Human</term>
<term>Multiple endocrine neoplasia type I</term>
<term>Physical map</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Homme</term>
<term>Chromosome C11</term>
<term>Carte génétique</term>
<term>Carte physique</term>
<term>Contig</term>
<term>Batterie gène</term>
<term>Marqueur EST</term>
<term>Polyadénomatose endocrinienne I</term>
<term>Gène MEN1</term>
</keywords>
<keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Homme</term>
</keywords>
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<front><div type="abstract" xml:lang="en">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 DllS449 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 DllS1783 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 DllS2196E) were observed. These results represent a valuable transcriptional map of chromosome llq13 that will help in the search for disease genes in this region.</div>
</front>
</TEI>
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<fA08 i1="01" i2="1" l="ENG"><s1>Construction of a 1.2-Mb sequence-ready contig of chromosome 11q13 encompassing the multiple endocrine neoplasia type 1 (MEN1) gene : The European consortium on MEN1</s1>
</fA08>
<fA11 i1="01" i2="1"><s1>LEMMENS (I.)</s1>
</fA11>
<fA11 i1="02" i2="1"><s1>MERREGAERT (J.)</s1>
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<fA11 i1="18" i2="1"><s1>DE WIT (M. J.)</s1>
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<fA11 i1="19" i2="1"><s1>LIPS (C. J. M.)</s1>
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<fA11 i1="20" i2="1"><s1>HÖPPENER (J. W. M.)</s1>
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<fA11 i1="21" i2="1"><s1>KHODAEI (S.)</s1>
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<fA11 i1="22" i2="1"><s1>GRANT (A. L.)</s1>
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<fA11 i1="23" i2="1"><s1>WEBER (G.)</s1>
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<fA11 i1="24" i2="1"><s1>KYTÖLÄ (S.)</s1>
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<fA11 i1="25" i2="1"><s1>TEH (B. T.)</s1>
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<fA11 i1="26" i2="1"><s1>FARNEBO (F.)</s1>
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<fA11 i1="27" i2="1"><s1>GRIMMOND (S.)</s1>
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<fA11 i1="28" i2="1"><s1>PHELAN (C.)</s1>
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<fA11 i1="29" i2="1"><s1>LARSSON (C.)</s1>
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<fA14 i1="01"><s1>Laboratory for Molecular Oncology & Flanders Interuniversity Institute for Biotechnology, Centre for Human Genetics, KU Leuven, Herestraat 49</s1>
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<fA14 i1="02"><s1>Laboratory of Molecular Biotechnology, Department of Biochemistry, University of Antwerp, Universiteitsplein 1</s1>
<s2>2610 Wilrijk</s2>
<s3>BEL</s3>
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<fA14 i1="03"><s1>Genetic Unit, Hôpital Edouard Herriot</s1>
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<sZ>6 aut.</sZ>
<sZ>8 aut.</sZ>
<sZ>10 aut.</sZ>
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<fA14 i1="04"><s1>Laboratory of Genetics and Cancer, CNRS UMRS641, Medical University Claude Bernard Lyon I</s1>
<s2>Lyon</s2>
<s3>FRA</s3>
<sZ>5 aut.</sZ>
<sZ>7 aut.</sZ>
<sZ>8 aut.</sZ>
<sZ>9 aut.</sZ>
<sZ>11 aut.</sZ>
<sZ>12 aut.</sZ>
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<fA14 i1="05"><s1>Instabilité et Altérations des Génomes, UNSA/CNRS UMR 6549, Avenue de Valombrose</s1>
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<fA14 i1="06"><s1>Department of Internal Medicine and Department of Pathology, Utrecht University Hospital, H04-313, PO Box 85500, Heidelberglaan 100</s1>
<s2>3508 GA Utrecht</s2>
<s3>NLD</s3>
<sZ>18 aut.</sZ>
<sZ>19 aut.</sZ>
<sZ>20 aut.</sZ>
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<s2>171 76 Stockholm</s2>
<s3>SWE</s3>
<sZ>21 aut.</sZ>
<sZ>22 aut.</sZ>
<sZ>23 aut.</sZ>
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<fA14 i1="08"><s1>Department of Molecular Medicine, Endocrine Tumour Unit, Karolinska Hospital, CMM L8:01</s1>
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<s3>SWE</s3>
<sZ>24 aut.</sZ>
<sZ>25 aut.</sZ>
<sZ>26 aut.</sZ>
<sZ>28 aut.</sZ>
<sZ>29 aut.</sZ>
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<fA14 i1="09"><s1>Department of Clinical Genetics, Oulu University Hospital</s1>
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<s3>FIN</s3>
<sZ>24 aut.</sZ>
</fA14>
<fA14 i1="10"><s1>Human Genetics Laboratory Queensland Institute of Medical Research</s1>
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<sZ>27 aut.</sZ>
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<sZ>30 aut.</sZ>
<sZ>31 aut.</sZ>
<sZ>32 aut.</sZ>
<sZ>33 aut.</sZ>
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<fA20><s1>94-100</s1>
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<s1>© 1997 INIST-CNRS. All rights reserved.</s1>
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<fA47 i1="01" i2="1"><s0>97-0469877</s0>
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<fA60><s1>P</s1>
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<fA61><s0>A</s0>
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<fA64 i1="01" i2="1"><s0>Genomics : (San Diego, CA)</s0>
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<fA66 i1="01"><s0>USA</s0>
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<fC01 i1="01" l="ENG"><s0>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 DllS449 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 DllS1783 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 DllS2196E) were observed. These results represent a valuable transcriptional map of chromosome llq13 that will help in the search for disease genes in this region.</s0>
</fC01>
<fC02 i1="01" i2="X"><s0>002B21C02</s0>
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<fC03 i1="05" i2="X" l="FRE"><s0>Contig</s0>
<s5>05</s5>
</fC03>
<fC03 i1="05" i2="X" l="ENG"><s0>Contig</s0>
<s5>05</s5>
</fC03>
<fC03 i1="05" i2="X" l="SPA"><s0>Contig</s0>
<s5>05</s5>
</fC03>
<fC03 i1="06" i2="X" l="FRE"><s0>Batterie gène</s0>
<s5>06</s5>
</fC03>
<fC03 i1="06" i2="X" l="ENG"><s0>Gene cluster</s0>
<s5>06</s5>
</fC03>
<fC03 i1="06" i2="X" l="SPA"><s0>Agregado gen</s0>
<s5>06</s5>
</fC03>
<fC03 i1="07" i2="X" l="FRE"><s0>Marqueur EST</s0>
<s5>07</s5>
</fC03>
<fC03 i1="07" i2="X" l="ENG"><s0>Expressed sequence tag</s0>
<s5>07</s5>
</fC03>
<fC03 i1="07" i2="X" l="SPA"><s0>Marcador EST</s0>
<s5>07</s5>
</fC03>
<fC03 i1="08" i2="X" l="FRE"><s0>Polyadénomatose endocrinienne I</s0>
<s5>15</s5>
</fC03>
<fC03 i1="08" i2="X" l="ENG"><s0>Multiple endocrine neoplasia type I</s0>
<s5>15</s5>
</fC03>
<fC03 i1="08" i2="X" l="SPA"><s0>Neoplasia endocrina múltiple tipo I</s0>
<s5>15</s5>
</fC03>
<fC03 i1="09" i2="X" l="FRE"><s0>Gène MEN1</s0>
<s4>INC</s4>
<s5>94</s5>
</fC03>
<fC07 i1="01" i2="X" l="FRE"><s0>Biologie moléculaire</s0>
<s5>27</s5>
</fC07>
<fC07 i1="01" i2="X" l="ENG"><s0>Molecular biology</s0>
<s5>27</s5>
</fC07>
<fC07 i1="01" i2="X" l="SPA"><s0>Biología molecular</s0>
<s5>27</s5>
</fC07>
<fC07 i1="02" i2="X" l="FRE"><s0>Tumeur bénigne</s0>
<s5>58</s5>
</fC07>
<fC07 i1="02" i2="X" l="ENG"><s0>Benign neoplasm</s0>
<s5>58</s5>
</fC07>
<fC07 i1="02" i2="X" l="SPA"><s0>Tumor benigno</s0>
<s5>58</s5>
</fC07>
<fC07 i1="03" i2="X" l="FRE"><s0>Maladie héréditaire</s0>
<s5>59</s5>
</fC07>
<fC07 i1="03" i2="X" l="ENG"><s0>Genetic disease</s0>
<s5>59</s5>
</fC07>
<fC07 i1="03" i2="X" l="SPA"><s0>Enfermedad hereditaria</s0>
<s5>59</s5>
</fC07>
<fC07 i1="04" i2="X" l="FRE"><s0>Endocrinopathie</s0>
<s5>60</s5>
</fC07>
<fC07 i1="04" i2="X" l="ENG"><s0>Endocrinopathy</s0>
<s5>60</s5>
</fC07>
<fC07 i1="04" i2="X" l="SPA"><s0>Endocrinopatía</s0>
<s5>60</s5>
</fC07>
<fN21><s1>286</s1>
</fN21>
</pA>
</standard>
</inist>
</record>
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