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Identification of the multiple endocrine neoplasia type 1 (MEN1) gene

Identifieur interne : 006700 ( PascalFrancis/Curation ); précédent : 006699; suivant : 006701

Identification of the multiple endocrine neoplasia type 1 (MEN1) gene

Auteurs : I. Lemmens [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] ; M. Pugeat [France] ; A. Calender [France] ; F. Parente [France] ; D. Quincey [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 [Suède, Finlande] ; B. T. Teh [Suède] ; F. Farnebo [Suède] ; C. Phelan [Suède] ; N. Hayward [Australie] ; C. Larsson [Suède] ; A. A. J. Pannett [Royaume-Uni] ; S. A. Forbes [Royaume-Uni] ; J. H. D. Bassett [Royaume-Uni] ; R. V. Thakker [Royaume-Uni]

Source :

RBID : Pascal:97-0389518

Descripteurs français

English descriptors

Abstract

Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant disorder characterised by tumours of the parathyroids, pancreas and anterior pituitary that represents one of the familial cancer syndromes. The MEN1 locus has been previously localised to chromosome 11q13, and a <300 kb gene-rich region flanked centromerically by PYGM and telomerically by D11S1783 defined by combined meiotic and tumour deletion mapping studies. Two candidate genes, ZFM1 and PPP2RSB, from this region have been previously excluded, and in order to identify additional candidate genes we used a BAC to isolate cDNAs from a bovine parathyroid cDNA library by direct selection. One of the novel genes that we identified, SCG2, proved to be identical to the recently published MEN1 gene, which is likely to be a tumour suppressor gene. The SCG2 transcript was 2.9 kb in all tissues with an additional 4.2 kb transcript also being present in the pancreas and thymus. Mutational analysis of SCG2 in 10 unrelated MEN1 families identified one polymorphism and nine different heterozygous mutations (one missense, four non-sense, one insertional and three deletional frameshifts) that segregated with the disease, hence providing an independent confirmation for the identification of the MEN1 gene.
pA  
A01 01  1    @0 0964-6906
A03   1    @0 Hum. mol. genet.
A05       @2 6
A06       @2 7
A08 01  1  ENG  @1 Identification of the multiple endocrine neoplasia type 1 (MEN1) gene
A11 01  1    @1 LEMMENS (I.)
A11 02  1    @1 VAN DE VEN (W. J. M.)
A11 03  1    @1 KAS (K.)
A11 04  1    @1 ZHANG (C. X.)
A11 05  1    @1 GIRAUD (S.)
A11 06  1    @1 WAUTOT (V.)
A11 07  1    @1 BUISSON (N.)
A11 08  1    @1 DE WITTE (K.)
A11 09  1    @1 SALANDRE (J.)
A11 10  1    @1 LENOIR (G.)
A11 11  1    @1 PUGEAT (M.)
A11 12  1    @1 CALENDER (A.)
A11 13  1    @1 PARENTE (F.)
A11 14  1    @1 QUINCEY (D.)
A11 15  1    @1 GAUDRAY (P.)
A11 16  1    @1 DE WIT (M. J.)
A11 17  1    @1 LIPS (C. J. M.)
A11 18  1    @1 HÖPPENER (J. W. M.)
A11 19  1    @1 KHODAEI (S.)
A11 20  1    @1 GRANT (A. L.)
A11 21  1    @1 WEBER (G.)
A11 22  1    @1 KYTÖLÄ (S.)
A11 23  1    @1 TEH (B. T.)
A11 24  1    @1 FARNEBO (F.)
A11 25  1    @1 PHELAN (C.)
A11 26  1    @1 HAYWARD (N.)
A11 27  1    @1 LARSSON (C.)
A11 28  1    @1 PANNETT (A. A. J.)
A11 29  1    @1 FORBES (S. A.)
A11 30  1    @1 BASSETT (J. H. D.)
A11 31  1    @1 THAKKER (R. V.)
A14 01      @1 Laboratory for Molecular Oncology and Flanders Interuniversity Institute for Biotechnology, Center for Human Genetics, KU Leuven, Herestraat 49 @2 3000 Leuven @3 BEL @Z 1 aut. @Z 2 aut. @Z 3 aut.
A14 02      @1 GENEM 1 (Groupe d'Etude des Néoplasies Endocriniennes Multiples de type 1): Genetic Unit, Hôpital Edouard Herriot, @2 Lyon @3 FRA @Z 4 aut. @Z 5 aut. @Z 7 aut. @Z 9 aut. @Z 10 aut. @Z 12 aut.
A14 03      @1 GENEM 1 (Groupe d'Etude des Néoplasies Endocriniennes Multiples de type 1):Laboratory of genetics and cancer, CNRS UMR5641, Medical University Claude Bernard Lyon 1 @3 FRA @Z 4 aut. @Z 6 aut. @Z 7 aut. @Z 8 aut. @Z 10 aut. @Z 12 aut.
A14 04      @1 GENEM 1 (Groupe d'Etude des Néoplasies Endocriniennes Multiples de type 1):Endocrinology Unit, Hôpital de l'Antiquaille @2 69 Lyon @3 FRA @Z 11 aut.
A14 05      @1 Instabilité et altérations des Génomes, UNSA/CNRS UMR 6549, Avenue de Valombrose @2 06107 Nice @3 FRA @Z 13 aut. @Z 14 aut. @Z 15 aut.
A14 06      @1 Utrecht University Hospital, Departments of Internal Medicine and Pathology, H04-313, PO Box 85500, Heidelberglaan 100 @2 3508 GA Utrecht @3 NLD @Z 16 aut. @Z 17 aut. @Z 18 aut.
A14 07      @1 Department of Molecular Medicine, Karolinska Hospital, Clinical Genetics Unit, CMM L8:02 @2 171 76 Stockholm @3 SWE @Z 19 aut. @Z 20 aut. @Z 21 aut.
A14 08      @1 Department of Molecular Medicine, Endocrine tumour unit, Karolinska Hospital, CMM L8:01 @2 171 76 Stockholm @3 SWE @Z 22 aut. @Z 23 aut. @Z 24 aut. @Z 25 aut. @Z 27 aut.
A14 09      @1 Department of Clinical Genetics, Oulu University Hospital @2 Oulu @3 FIN @Z 22 aut.
A14 10      @1 Queensland Institute of Medical Research, Human Genetics Laboratory @2 Herston 4029, Queensland @3 AUS @Z 26 aut.
A14 11      @1 MRC Molecular Endocrinology Group, MRC Clinical Sciences Centre, Royal Postgraduate Medical School, Hammersmith Hospital, Du Cane Road @2 London W12 0NN @3 GBR @Z 28 aut. @Z 29 aut. @Z 30 aut. @Z 31 aut.
A17 01  1    @1 The European Consortium on MEN1 @3 INC
A20       @1 1177-1183
A21       @1 1997
A23 01      @0 ENG
A43 01      @1 INIST @2 22540 @5 354000067240670270
A44       @0 0000 @1 © 1997 INIST-CNRS. All rights reserved.
A45       @0 30 ref.
A47 01  1    @0 97-0389518
A60       @1 P @3 C
A61       @0 A
A64 01  1    @0 Human molecular genetics
A66 01      @0 GBR
C01 01    ENG  @0 Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant disorder characterised by tumours of the parathyroids, pancreas and anterior pituitary that represents one of the familial cancer syndromes. The MEN1 locus has been previously localised to chromosome 11q13, and a <300 kb gene-rich region flanked centromerically by PYGM and telomerically by D11S1783 defined by combined meiotic and tumour deletion mapping studies. Two candidate genes, ZFM1 and PPP2RSB, from this region have been previously excluded, and in order to identify additional candidate genes we used a BAC to isolate cDNAs from a bovine parathyroid cDNA library by direct selection. One of the novel genes that we identified, SCG2, proved to be identical to the recently published MEN1 gene, which is likely to be a tumour suppressor gene. The SCG2 transcript was 2.9 kb in all tissues with an additional 4.2 kb transcript also being present in the pancreas and thymus. Mutational analysis of SCG2 in 10 unrelated MEN1 families identified one polymorphism and nine different heterozygous mutations (one missense, four non-sense, one insertional and three deletional frameshifts) that segregated with the disease, hence providing an independent confirmation for the identification of the MEN1 gene.
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C03 01  X  FRE  @0 Homme @5 01
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C03 01  X  SPA  @0 Hombre @5 01
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C03 02  X  ENG  @0 Genetics @5 02
C03 02  X  SPA  @0 Genética @5 02
C03 03  X  FRE  @0 Chromosome C11 @5 03
C03 03  X  ENG  @0 Chromosome C11 @5 03
C03 03  X  SPA  @0 Cromosoma C11 @5 03
C03 04  X  FRE  @0 Carte génétique @5 04
C03 04  X  ENG  @0 Genetic mapping @5 04
C03 04  X  SPA  @0 Mapa genético @5 04
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C03 06  X  FRE  @0 Gène suppresseur tumeur @5 06
C03 06  X  ENG  @0 Tumor suppressor gene @5 06
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C03 07  X  FRE  @0 Expression génique @5 07
C03 07  X  ENG  @0 Gene expression @5 07
C03 07  X  SPA  @0 Expresión genética @5 07
C03 08  X  FRE  @0 Hyperparathyroïdie @5 14
C03 08  X  ENG  @0 Hyperparathyroidism @5 14
C03 08  X  SPA  @0 Hiperparatiroidismo @5 14
C03 09  X  FRE  @0 Polyadénomatose endocrinienne I @5 15
C03 09  X  ENG  @0 Multiple endocrine neoplasia type I @5 15
C03 09  X  SPA  @0 Neoplasia endocrina múltiple tipo I @5 15
C07 01  X  FRE  @0 Endocrinopathie @5 47
C07 01  X  ENG  @0 Endocrinopathy @5 47
C07 01  X  SPA  @0 Endocrinopatía @5 47
C07 02  X  FRE  @0 Parathyroïde pathologie @5 48
C07 02  X  ENG  @0 Parathyroid diseases @5 48
C07 02  X  SPA  @0 Paratiroides patología @5 48
C07 03  X  FRE  @0 Tumeur bénigne @5 58
C07 03  X  ENG  @0 Benign neoplasm @5 58
C07 03  X  SPA  @0 Tumor benigno @5 58
C07 04  X  FRE  @0 Maladie héréditaire @5 59
C07 04  X  ENG  @0 Genetic disease @5 59
C07 04  X  SPA  @0 Enfermedad hereditaria @5 59
N21       @1 237

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Le document en format XML

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<s1>Department of Molecular Medicine, Endocrine tumour unit, Karolinska Hospital, CMM L8:01</s1>
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<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>
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<title xml:lang="en" level="a">Identification of the multiple endocrine neoplasia type 1 (MEN1) gene</title>
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<sZ>19 aut.</sZ>
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<s1>Department of Molecular Medicine, Endocrine tumour unit, Karolinska Hospital, CMM L8:01</s1>
<s2>171 76 Stockholm</s2>
<s3>SWE</s3>
<sZ>22 aut.</sZ>
<sZ>23 aut.</sZ>
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<s1>Department of Molecular Medicine, Endocrine tumour unit, Karolinska Hospital, CMM L8:01</s1>
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<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>
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<name sortKey="Forbes, S A" sort="Forbes, S A" uniqKey="Forbes S" first="S. A." last="Forbes">S. A. Forbes</name>
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<name sortKey="Thakker, R V" sort="Thakker, R V" uniqKey="Thakker R" first="R. V." last="Thakker">R. V. Thakker</name>
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<series>
<title level="j" type="main">Human molecular genetics</title>
<title level="j" type="abbreviated">Hum. mol. genet.</title>
<idno type="ISSN">0964-6906</idno>
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<date when="1997">1997</date>
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<title level="j" type="main">Human molecular genetics</title>
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<term>Chromosome C11</term>
<term>Gene expression</term>
<term>Genetic mapping</term>
<term>Genetics</term>
<term>Human</term>
<term>Hyperparathyroidism</term>
<term>Multiple endocrine neoplasia type I</term>
<term>Mutation</term>
<term>Tumor suppressor gene</term>
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<keywords scheme="Pascal" xml:lang="fr">
<term>Homme</term>
<term>Génétique</term>
<term>Chromosome C11</term>
<term>Carte génétique</term>
<term>Mutation</term>
<term>Gène suppresseur tumeur</term>
<term>Expression génique</term>
<term>Hyperparathyroïdie</term>
<term>Polyadénomatose endocrinienne I</term>
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<front>
<div type="abstract" xml:lang="en">Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant disorder characterised by tumours of the parathyroids, pancreas and anterior pituitary that represents one of the familial cancer syndromes. The MEN1 locus has been previously localised to chromosome 11q13, and a <300 kb gene-rich region flanked centromerically by PYGM and telomerically by D11S1783 defined by combined meiotic and tumour deletion mapping studies. Two candidate genes, ZFM1 and PPP2RSB, from this region have been previously excluded, and in order to identify additional candidate genes we used a BAC to isolate cDNAs from a bovine parathyroid cDNA library by direct selection. One of the novel genes that we identified, SCG2, proved to be identical to the recently published MEN1 gene, which is likely to be a tumour suppressor gene. The SCG2 transcript was 2.9 kb in all tissues with an additional 4.2 kb transcript also being present in the pancreas and thymus. Mutational analysis of SCG2 in 10 unrelated MEN1 families identified one polymorphism and nine different heterozygous mutations (one missense, four non-sense, one insertional and three deletional frameshifts) that segregated with the disease, hence providing an independent confirmation for the identification of the MEN1 gene.</div>
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<s1>Instabilité et altérations des Génomes, UNSA/CNRS UMR 6549, Avenue de Valombrose</s1>
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<sZ>16 aut.</sZ>
<sZ>17 aut.</sZ>
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<s1>Department of Molecular Medicine, Karolinska Hospital, Clinical Genetics Unit, CMM L8:02</s1>
<s2>171 76 Stockholm</s2>
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<sZ>19 aut.</sZ>
<sZ>20 aut.</sZ>
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<s1>Department of Molecular Medicine, Endocrine tumour unit, Karolinska Hospital, CMM L8:01</s1>
<s2>171 76 Stockholm</s2>
<s3>SWE</s3>
<sZ>22 aut.</sZ>
<sZ>23 aut.</sZ>
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<s1>Department of Clinical Genetics, Oulu University Hospital</s1>
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<s1>Queensland Institute of Medical Research, Human Genetics Laboratory</s1>
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<sZ>28 aut.</sZ>
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<sZ>30 aut.</sZ>
<sZ>31 aut.</sZ>
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<s1>The European Consortium on MEN1</s1>
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<s5>03</s5>
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<fC03 i1="03" i2="X" l="ENG">
<s0>Chromosome C11</s0>
<s5>03</s5>
</fC03>
<fC03 i1="03" i2="X" l="SPA">
<s0>Cromosoma C11</s0>
<s5>03</s5>
</fC03>
<fC03 i1="04" i2="X" l="FRE">
<s0>Carte génétique</s0>
<s5>04</s5>
</fC03>
<fC03 i1="04" i2="X" l="ENG">
<s0>Genetic mapping</s0>
<s5>04</s5>
</fC03>
<fC03 i1="04" i2="X" l="SPA">
<s0>Mapa genético</s0>
<s5>04</s5>
</fC03>
<fC03 i1="05" i2="X" l="FRE">
<s0>Mutation</s0>
<s5>05</s5>
</fC03>
<fC03 i1="05" i2="X" l="ENG">
<s0>Mutation</s0>
<s5>05</s5>
</fC03>
<fC03 i1="05" i2="X" l="SPA">
<s0>Mutación</s0>
<s5>05</s5>
</fC03>
<fC03 i1="06" i2="X" l="FRE">
<s0>Gène suppresseur tumeur</s0>
<s5>06</s5>
</fC03>
<fC03 i1="06" i2="X" l="ENG">
<s0>Tumor suppressor gene</s0>
<s5>06</s5>
</fC03>
<fC03 i1="06" i2="X" l="SPA">
<s0>Gen supresor tumor</s0>
<s5>06</s5>
</fC03>
<fC03 i1="07" i2="X" l="FRE">
<s0>Expression génique</s0>
<s5>07</s5>
</fC03>
<fC03 i1="07" i2="X" l="ENG">
<s0>Gene expression</s0>
<s5>07</s5>
</fC03>
<fC03 i1="07" i2="X" l="SPA">
<s0>Expresión genética</s0>
<s5>07</s5>
</fC03>
<fC03 i1="08" i2="X" l="FRE">
<s0>Hyperparathyroïdie</s0>
<s5>14</s5>
</fC03>
<fC03 i1="08" i2="X" l="ENG">
<s0>Hyperparathyroidism</s0>
<s5>14</s5>
</fC03>
<fC03 i1="08" i2="X" l="SPA">
<s0>Hiperparatiroidismo</s0>
<s5>14</s5>
</fC03>
<fC03 i1="09" i2="X" l="FRE">
<s0>Polyadénomatose endocrinienne I</s0>
<s5>15</s5>
</fC03>
<fC03 i1="09" i2="X" l="ENG">
<s0>Multiple endocrine neoplasia type I</s0>
<s5>15</s5>
</fC03>
<fC03 i1="09" i2="X" l="SPA">
<s0>Neoplasia endocrina múltiple tipo I</s0>
<s5>15</s5>
</fC03>
<fC07 i1="01" i2="X" l="FRE">
<s0>Endocrinopathie</s0>
<s5>47</s5>
</fC07>
<fC07 i1="01" i2="X" l="ENG">
<s0>Endocrinopathy</s0>
<s5>47</s5>
</fC07>
<fC07 i1="01" i2="X" l="SPA">
<s0>Endocrinopatía</s0>
<s5>47</s5>
</fC07>
<fC07 i1="02" i2="X" l="FRE">
<s0>Parathyroïde pathologie</s0>
<s5>48</s5>
</fC07>
<fC07 i1="02" i2="X" l="ENG">
<s0>Parathyroid diseases</s0>
<s5>48</s5>
</fC07>
<fC07 i1="02" i2="X" l="SPA">
<s0>Paratiroides patología</s0>
<s5>48</s5>
</fC07>
<fC07 i1="03" i2="X" l="FRE">
<s0>Tumeur bénigne</s0>
<s5>58</s5>
</fC07>
<fC07 i1="03" i2="X" l="ENG">
<s0>Benign neoplasm</s0>
<s5>58</s5>
</fC07>
<fC07 i1="03" i2="X" l="SPA">
<s0>Tumor benigno</s0>
<s5>58</s5>
</fC07>
<fC07 i1="04" i2="X" l="FRE">
<s0>Maladie héréditaire</s0>
<s5>59</s5>
</fC07>
<fC07 i1="04" i2="X" l="ENG">
<s0>Genetic disease</s0>
<s5>59</s5>
</fC07>
<fC07 i1="04" i2="X" l="SPA">
<s0>Enfermedad hereditaria</s0>
<s5>59</s5>
</fC07>
<fN21>
<s1>237</s1>
</fN21>
</pA>
</standard>
</inist>
</record>

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