In-frame seven amino-acid duplication in AIP arose over the last 3000 years, disrupts protein interaction and stability and is associated with gigantism
Identifieur interne : 000A05 ( Main/Exploration ); précédent : 000A04; suivant : 000A06In-frame seven amino-acid duplication in AIP arose over the last 3000 years, disrupts protein interaction and stability and is associated with gigantism
Auteurs : Roberto Salvatori [États-Unis] ; Serban Radian [Royaume-Uni, Roumanie] ; Yoan Diekmann [Royaume-Uni] ; Donato Iacovazzo [Royaume-Uni] ; Alessia David [Royaume-Uni] ; Plamena Gabrovska [Royaume-Uni] ; Giorgia Grassi [Royaume-Uni] ; Anna-Marie Bussell [Royaume-Uni] ; Karen Stals [Royaume-Uni] ; Astrid Weber [Royaume-Uni] ; Richard Quinton [Royaume-Uni] ; Elizabeth C. Crowne [Royaume-Uni] ; Valentina Corazzini [États-Unis] ; Lou Metherell [Royaume-Uni] ; Tara Kearney [Royaume-Uni] ; Daniel Du Plessis [Royaume-Uni] ; Ajay Kumar Sinha [Royaume-Uni] ; Atik Baborie [Royaume-Uni] ; Anne-Lise Lecoq [France] ; Philippe Chanson [France] ; Olaf Ansorge [Royaume-Uni] ; Sian Ellard [Royaume-Uni] ; Peter J. Trainer [Royaume-Uni] ; David Balding [Royaume-Uni, Australie] ; Mark G. Thomas [Royaume-Uni] ; Márta Korbonits [Royaume-Uni]Source :
- European Journal of Endocrinology [ 0804-4643 ] ; 2017.
Descripteurs français
- KwdFr :
- Adolescent, Adulte, Allèles, Cartographie d'interactions entre protéines (), Cellules HEK293, Enfant, Femelle, France, Gigantisme (diagnostic), Gigantisme (génétique), Humains, Jeune adulte, Mâle, Pedigree, Protéines et peptides de signalisation intracellulaire (), Protéines et peptides de signalisation intracellulaire (génétique), Royaume-Uni, Stabilité protéique, Structure secondaire des protéines, Séquence d'acides aminés, États-Unis d'Amérique.
- MESH :
- diagnostic : Gigantisme.
- génétique : Gigantisme, Protéines et peptides de signalisation intracellulaire.
- Adolescent, Adulte, Allèles, Cartographie d'interactions entre protéines, Cellules HEK293, Enfant, Femelle, France, Humains, Jeune adulte, Mâle, Pedigree, Protéines et peptides de signalisation intracellulaire, Royaume-Uni, Stabilité protéique, Structure secondaire des protéines, Séquence d'acides aminés, États-Unis d'Amérique.
English descriptors
- KwdEn :
- Adolescent, Adult, Alleles, Amino Acid Sequence, Child, Female, France, Gigantism (diagnosis), Gigantism (genetics), HEK293 Cells, Humans, Intracellular Signaling Peptides and Proteins (chemistry), Intracellular Signaling Peptides and Proteins (genetics), Male, Pedigree, Protein Interaction Mapping (methods), Protein Stability, Protein Structure, Secondary, United Kingdom, United States, Young Adult.
- MESH :
- chemical , chemistry : Intracellular Signaling Peptides and Proteins.
- diagnosis : Gigantism.
- genetics : Gigantism, Intracellular Signaling Peptides and Proteins.
- methods : Protein Interaction Mapping.
- Adolescent, Adult, Alleles, Amino Acid Sequence, Child, Female, France, HEK293 Cells, Humans, Male, Pedigree, Protein Stability, Protein Structure, Secondary, United Kingdom, United States, Young Adult.
Abstract
Mutations in the aryl hydrocarbon receptor-interacting protein (
Observational, inferential and experimental study, including:
Nine European-origin, unrelated c.805_825dup-positive pedigrees (four familial, five sporadic from the UK, USA and France) included 16 affected (nine gigantism/four acromegaly/two non-functioning pituitary adenoma patients and one prospectively diagnosed acromegaly patient) and nine unaffected carriers. All pedigrees shared a 2.79 Mbp haploblock around
The c.805_825dup allele, originating from a common ancestor, associates with a severe clinical phenotype and a high frequency of gigantism. The mutation is likely to be the result of slipped strand mispairing and affects protein–protein interactions and AIP protein stability.
Url:
DOI: 10.1530/EJE-17-0293
PubMed: 28634279
PubMed Central: 5510572
Affiliations:
- Australie, France, Roumanie, Royaume-Uni, États-Unis
- Angleterre, Grand Londres, Grand Manchester, Maryland, Oxfordshire, Victoria (État)
- Londres, Manchester, Melbourne, Oxford
- University College de Londres, Université d'Oxford, Université de Londres, Université de Melbourne
Links toward previous steps (curation, corpus...)
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Le document en format XML
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Parhon National Institute of Endocrinology, ‘C. Davila’ University of Medicine and Pharmacy, Bucharest, Romania</addr-line></nlm:aff><country xml:lang="fr">Roumanie</country><wicri:regionArea>C.I. Parhon National Institute of Endocrinology, ‘C. 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type="city">Oxford</settlement><region type="country">Angleterre</region><region type="comté" nuts="2">Oxfordshire</region><settlement type="city">Oxford</settlement></placeName><orgName type="university">Université d'Oxford</orgName></affiliation></author><author><name sortKey="Ellard, Sian" sort="Ellard, Sian" uniqKey="Ellard S" first="Sian" last="Ellard">Sian Ellard</name><affiliation wicri:level="1"><nlm:aff id="aff6"><institution>Department of Molecular Genetics</institution><addr-line>Royal Devon and Exeter Foundation Trust, Exeter, UK</addr-line></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Royal Devon and Exeter Foundation Trust, Exeter</wicri:regionArea><wicri:noRegion>Exeter</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:aff id="aff15"><institution>Institute of Biomedical and Clinical Science</institution><addr-line>University of Exeter Medical School, Exeter, UK</addr-line></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>University of Exeter Medical School, Exeter</wicri:regionArea><wicri:noRegion>Exeter</wicri:noRegion></affiliation></author><author><name sortKey="Trainer, Peter J" sort="Trainer, Peter J" uniqKey="Trainer P" first="Peter J" last="Trainer">Peter J. Trainer</name><affiliation wicri:level="3"><nlm:aff id="aff16"><institution>Department of Endocrinology</institution><addr-line>Christie Hospital, Manchester, UK</addr-line></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Christie Hospital, Manchester</wicri:regionArea><placeName><settlement type="city">Manchester</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Manchester</region></placeName></affiliation></author><author><name sortKey="Balding, David" sort="Balding, David" uniqKey="Balding D" first="David" last="Balding">David Balding</name><affiliation wicri:level="4"><nlm:aff id="aff4"><institution>Research Department of Genetics</institution><addr-line>Evolution and Environment, University College London, London, UK</addr-line></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Evolution and Environment, University College London, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region><settlement type="city">Londres</settlement></placeName><orgName type="university">University College de Londres</orgName></affiliation><affiliation wicri:level="4"><nlm:aff id="aff17"><institution>Centre for Systems Genomics</institution><addr-line>Schools of Biosciences and of Mathematics & Statistics, University of Melbourne, Melbourne, Australia</addr-line></nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>Schools of Biosciences and of Mathematics & Statistics, University of Melbourne, Melbourne</wicri:regionArea><placeName><settlement type="city">Melbourne</settlement><region type="état">Victoria (État)</region><settlement type="city">Melbourne</settlement></placeName><orgName type="university">Université de Melbourne</orgName></affiliation></author><author><name sortKey="Thomas, Mark G" sort="Thomas, Mark G" uniqKey="Thomas M" first="Mark G" last="Thomas">Mark G. Thomas</name><affiliation wicri:level="4"><nlm:aff id="aff4"><institution>Research Department of Genetics</institution><addr-line>Evolution and Environment, University College London, London, UK</addr-line></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Evolution and Environment, University College London, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region><settlement type="city">Londres</settlement></placeName><orgName type="university">University College de Londres</orgName></affiliation></author><author><name sortKey="Korbonits, Marta" sort="Korbonits, Marta" uniqKey="Korbonits M" first="Márta" last="Korbonits">Márta Korbonits</name><affiliation wicri:level="4"><nlm:aff id="aff2"><institution>William Harvey Research Institute</institution><addr-line>Barts and the London School of Medicine, Queen Mary University of London, London, UK</addr-line></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Barts and the London School of Medicine, Queen Mary University of London, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region><settlement type="city">Londres</settlement></placeName><orgName type="university">Université de Londres</orgName></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">28634279</idno><idno type="pmc">5510572</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5510572</idno><idno type="RBID">PMC:5510572</idno><idno type="doi">10.1530/EJE-17-0293</idno><date when="2017">2017</date><idno type="wicri:Area/Pmc/Corpus">002466</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">002466</idno><idno type="wicri:Area/Pmc/Curation">002316</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Curation">002316</idno><idno type="wicri:Area/Pmc/Checkpoint">000249</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Checkpoint">000249</idno><idno type="wicri:source">PubMed</idno><idno type="wicri:Area/PubMed/Corpus">000543</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">000543</idno><idno type="wicri:Area/PubMed/Curation">000541</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Curation">000541</idno><idno type="wicri:Area/PubMed/Checkpoint">000541</idno><idno type="wicri:explorRef" wicri:stream="Checkpoint" wicri:step="PubMed">000541</idno><idno type="wicri:Area/Ncbi/Merge">004A18</idno><idno type="wicri:Area/Ncbi/Curation">004A18</idno><idno type="wicri:Area/Ncbi/Checkpoint">004A18</idno><idno type="wicri:doubleKey">0804-4643:2017:Salvatori R:in:frame:seven</idno><idno type="wicri:Area/Main/Merge">000A00</idno><idno type="wicri:Area/Main/Curation">000A05</idno><idno type="wicri:Area/Main/Exploration">000A05</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">In-frame seven amino-acid duplication in <italic>AIP</italic> arose over the last 3000 years, disrupts protein interaction and stability and is associated with gigantism</title><author><name sortKey="Salvatori, Roberto" sort="Salvatori, Roberto" uniqKey="Salvatori R" first="Roberto" last="Salvatori">Roberto Salvatori</name><affiliation wicri:level="2"><nlm:aff id="aff1"><institution>Johns Hopkins University School of Medicine</institution><addr-line>Baltimore, Maryland, USA</addr-line></nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Baltimore, Maryland</wicri:regionArea><placeName><region type="state">Maryland</region></placeName></affiliation></author><author><name sortKey="Radian, Serban" sort="Radian, Serban" uniqKey="Radian S" first="Serban" last="Radian">Serban Radian</name><affiliation wicri:level="4"><nlm:aff id="aff2"><institution>William Harvey Research Institute</institution><addr-line>Barts and the London School of Medicine, Queen Mary University of London, London, UK</addr-line></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Barts and the London School of Medicine, Queen Mary University of London, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region><settlement type="city">Londres</settlement></placeName><orgName type="university">Université de Londres</orgName></affiliation><affiliation wicri:level="1"><nlm:aff id="aff3"><institution>Department of Endocrinology</institution><addr-line>C.I. Parhon National Institute of Endocrinology, ‘C. Davila’ University of Medicine and Pharmacy, Bucharest, Romania</addr-line></nlm:aff><country xml:lang="fr">Roumanie</country><wicri:regionArea>C.I. Parhon National Institute of Endocrinology, ‘C. Davila’ University of Medicine and Pharmacy, Bucharest</wicri:regionArea><wicri:noRegion>Bucharest</wicri:noRegion></affiliation></author><author><name sortKey="Diekmann, Yoan" sort="Diekmann, Yoan" uniqKey="Diekmann Y" first="Yoan" last="Diekmann">Yoan Diekmann</name><affiliation wicri:level="4"><nlm:aff id="aff4"><institution>Research Department of Genetics</institution><addr-line>Evolution and Environment, University College London, London, UK</addr-line></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Evolution and Environment, University College London, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region><settlement type="city">Londres</settlement></placeName><orgName type="university">University College de Londres</orgName></affiliation></author><author><name sortKey="Iacovazzo, Donato" sort="Iacovazzo, Donato" uniqKey="Iacovazzo D" first="Donato" last="Iacovazzo">Donato Iacovazzo</name><affiliation wicri:level="4"><nlm:aff id="aff2"><institution>William Harvey Research Institute</institution><addr-line>Barts and the London School of Medicine, Queen Mary University of London, London, UK</addr-line></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Barts and the London School of Medicine, Queen Mary University of London, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region><settlement type="city">Londres</settlement></placeName><orgName type="university">Université de Londres</orgName></affiliation></author><author><name sortKey="David, Alessia" sort="David, Alessia" uniqKey="David A" first="Alessia" last="David">Alessia David</name><affiliation wicri:level="3"><nlm:aff id="aff5"><institution>Centre of Bioinformatics and System Biology</institution><addr-line>Department of Life Sciences, Imperial College London, London, UK</addr-line></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Life Sciences, Imperial College London, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Gabrovska, Plamena" sort="Gabrovska, Plamena" uniqKey="Gabrovska P" first="Plamena" last="Gabrovska">Plamena Gabrovska</name><affiliation wicri:level="4"><nlm:aff id="aff2"><institution>William Harvey Research Institute</institution><addr-line>Barts and the London School of Medicine, Queen Mary University of London, London, UK</addr-line></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Barts and the London School of Medicine, Queen Mary University of London, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region><settlement type="city">Londres</settlement></placeName><orgName type="university">Université de Londres</orgName></affiliation></author><author><name sortKey="Grassi, Giorgia" sort="Grassi, Giorgia" uniqKey="Grassi G" first="Giorgia" last="Grassi">Giorgia Grassi</name><affiliation wicri:level="4"><nlm:aff id="aff2"><institution>William Harvey Research Institute</institution><addr-line>Barts and the London School of Medicine, Queen Mary University of London, London, UK</addr-line></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Barts and the London School of Medicine, Queen Mary University of London, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region><settlement type="city">Londres</settlement></placeName><orgName type="university">Université de Londres</orgName></affiliation></author><author><name sortKey="Bussell, Anna Marie" sort="Bussell, Anna Marie" uniqKey="Bussell A" first="Anna-Marie" last="Bussell">Anna-Marie Bussell</name><affiliation wicri:level="1"><nlm:aff id="aff6"><institution>Department of Molecular Genetics</institution><addr-line>Royal Devon and Exeter Foundation Trust, Exeter, UK</addr-line></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Royal Devon and Exeter Foundation Trust, Exeter</wicri:regionArea><wicri:noRegion>Exeter</wicri:noRegion></affiliation></author><author><name sortKey="Stals, Karen" sort="Stals, Karen" uniqKey="Stals K" first="Karen" last="Stals">Karen Stals</name><affiliation wicri:level="1"><nlm:aff id="aff6"><institution>Department of Molecular Genetics</institution><addr-line>Royal Devon and Exeter Foundation Trust, Exeter, UK</addr-line></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Royal Devon and Exeter Foundation Trust, Exeter</wicri:regionArea><wicri:noRegion>Exeter</wicri:noRegion></affiliation></author><author><name sortKey="Weber, Astrid" sort="Weber, Astrid" uniqKey="Weber A" first="Astrid" last="Weber">Astrid Weber</name><affiliation wicri:level="1"><nlm:aff id="aff7"><institution>Department of Clinical Genetics</institution><addr-line>Liverpool Women’s Hospital, Liverpool, UK</addr-line></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Liverpool Women’s Hospital, Liverpool</wicri:regionArea><wicri:noRegion>Liverpool</wicri:noRegion></affiliation></author><author><name sortKey="Quinton, Richard" sort="Quinton, Richard" uniqKey="Quinton R" first="Richard" last="Quinton">Richard Quinton</name><affiliation wicri:level="1"><nlm:aff id="aff8"><institution>Department of Endocrinology</institution><addr-line>Newcastle-upon-Tyne Hospitals & Institute of Genetic Medicine, Newcastle University, Newcastle, UK</addr-line></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Newcastle-upon-Tyne Hospitals & Institute of Genetic Medicine, Newcastle University, Newcastle</wicri:regionArea><wicri:noRegion>Newcastle</wicri:noRegion></affiliation></author><author><name sortKey="Crowne, Elizabeth C" sort="Crowne, Elizabeth C" uniqKey="Crowne E" first="Elizabeth C" last="Crowne">Elizabeth C. Crowne</name><affiliation wicri:level="1"><nlm:aff id="aff9"><institution>Bristol Royal Hospital for Children</institution><addr-line>University Hospitals Bristol Foundation Trust, Bristol, UK</addr-line></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>University Hospitals Bristol Foundation Trust, Bristol</wicri:regionArea><wicri:noRegion>Bristol</wicri:noRegion></affiliation></author><author><name sortKey="Corazzini, Valentina" sort="Corazzini, Valentina" uniqKey="Corazzini V" first="Valentina" last="Corazzini">Valentina Corazzini</name><affiliation wicri:level="2"><nlm:aff id="aff1"><institution>Johns Hopkins University School of Medicine</institution><addr-line>Baltimore, Maryland, USA</addr-line></nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Baltimore, Maryland</wicri:regionArea><placeName><region type="state">Maryland</region></placeName></affiliation></author><author><name sortKey="Metherell, Lou" sort="Metherell, Lou" uniqKey="Metherell L" first="Lou" last="Metherell">Lou Metherell</name><affiliation wicri:level="4"><nlm:aff id="aff2"><institution>William Harvey Research Institute</institution><addr-line>Barts and the London School of Medicine, Queen Mary University of London, London, UK</addr-line></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Barts and the London School of Medicine, Queen Mary University of London, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region><settlement type="city">Londres</settlement></placeName><orgName type="university">Université de Londres</orgName></affiliation></author><author><name sortKey="Kearney, Tara" sort="Kearney, Tara" uniqKey="Kearney T" first="Tara" last="Kearney">Tara Kearney</name><affiliation wicri:level="3"><nlm:aff id="aff10"><institution>Endocrinology and Neuropathology Unit</institution><addr-line>Salford Royal Hospital, Manchester, UK</addr-line></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Salford Royal Hospital, Manchester</wicri:regionArea><placeName><settlement type="city">Manchester</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Manchester</region></placeName></affiliation></author><author><name sortKey="Du Plessis, Daniel" sort="Du Plessis, Daniel" uniqKey="Du Plessis D" first="Daniel" last="Du Plessis">Daniel Du Plessis</name><affiliation wicri:level="3"><nlm:aff id="aff10"><institution>Endocrinology and Neuropathology Unit</institution><addr-line>Salford Royal Hospital, Manchester, UK</addr-line></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Salford Royal Hospital, Manchester</wicri:regionArea><placeName><settlement type="city">Manchester</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Manchester</region></placeName></affiliation></author><author><name sortKey="Sinha, Ajay Kumar" sort="Sinha, Ajay Kumar" uniqKey="Sinha A" first="Ajay Kumar" last="Sinha">Ajay Kumar Sinha</name><affiliation wicri:level="1"><nlm:aff id="aff11"><institution>The Walton Centre for Neurology and Neurosurgery</institution><addr-line>Liverpool, UK</addr-line></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Liverpool</wicri:regionArea></affiliation></author><author><name sortKey="Baborie, Atik" sort="Baborie, Atik" uniqKey="Baborie A" first="Atik" last="Baborie">Atik Baborie</name><affiliation wicri:level="1"><nlm:aff id="aff11"><institution>The Walton Centre for Neurology and Neurosurgery</institution><addr-line>Liverpool, UK</addr-line></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Liverpool</wicri:regionArea></affiliation></author><author><name sortKey="Lecoq, Anne Lise" sort="Lecoq, Anne Lise" uniqKey="Lecoq A" first="Anne-Lise" last="Lecoq">Anne-Lise Lecoq</name><affiliation wicri:level="1"><nlm:aff id="aff12"><institution>Assistance Publique-Hôpitaux de Paris</institution><addr-line>Hôpital de Bicêtre, Service d’Endocrinologie et des Maladies de la Reproduction and Centre de Référence des Maladies Endocriniennes Rares de la Croissance, Le Kremlin-Bicêtre, France</addr-line></nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Hôpital de Bicêtre, Service d’Endocrinologie et des Maladies de la Reproduction and Centre de Référence des Maladies Endocriniennes Rares de la Croissance, Le Kremlin-Bicêtre</wicri:regionArea><wicri:noRegion>Le Kremlin-Bicêtre</wicri:noRegion><wicri:noRegion>Le Kremlin-Bicêtre</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:aff id="aff13"><institution>Inserm 1185</institution><addr-line>Fac Med Paris Sud, Univ Paris-Sud, Université Paris-Saclay, Le Kremlin-Bicêtre, France</addr-line></nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Fac Med Paris Sud, Univ Paris-Sud, Université Paris-Saclay, Le Kremlin-Bicêtre</wicri:regionArea><wicri:noRegion>Le Kremlin-Bicêtre</wicri:noRegion><wicri:noRegion>Le Kremlin-Bicêtre</wicri:noRegion></affiliation></author><author><name sortKey="Chanson, Philippe" sort="Chanson, Philippe" uniqKey="Chanson P" first="Philippe" last="Chanson">Philippe Chanson</name><affiliation wicri:level="1"><nlm:aff id="aff12"><institution>Assistance Publique-Hôpitaux de Paris</institution><addr-line>Hôpital de Bicêtre, Service d’Endocrinologie et des Maladies de la Reproduction and Centre de Référence des Maladies Endocriniennes Rares de la Croissance, Le Kremlin-Bicêtre, France</addr-line></nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Hôpital de Bicêtre, Service d’Endocrinologie et des Maladies de la Reproduction and Centre de Référence des Maladies Endocriniennes Rares de la Croissance, Le Kremlin-Bicêtre</wicri:regionArea><wicri:noRegion>Le Kremlin-Bicêtre</wicri:noRegion><wicri:noRegion>Le Kremlin-Bicêtre</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:aff id="aff13"><institution>Inserm 1185</institution><addr-line>Fac Med Paris Sud, Univ Paris-Sud, Université Paris-Saclay, Le Kremlin-Bicêtre, France</addr-line></nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Fac Med Paris Sud, Univ Paris-Sud, Université Paris-Saclay, Le Kremlin-Bicêtre</wicri:regionArea><wicri:noRegion>Le Kremlin-Bicêtre</wicri:noRegion><wicri:noRegion>Le Kremlin-Bicêtre</wicri:noRegion></affiliation></author><author><name sortKey="Ansorge, Olaf" sort="Ansorge, Olaf" uniqKey="Ansorge O" first="Olaf" last="Ansorge">Olaf Ansorge</name><affiliation wicri:level="4"><nlm:aff id="aff14"><institution>Neuropathology</institution><addr-line>University of Oxford, Oxford, UK</addr-line></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>University of Oxford, Oxford</wicri:regionArea><placeName><settlement type="city">Oxford</settlement><region type="country">Angleterre</region><region type="comté" nuts="2">Oxfordshire</region><settlement type="city">Oxford</settlement></placeName><orgName type="university">Université d'Oxford</orgName></affiliation></author><author><name sortKey="Ellard, Sian" sort="Ellard, Sian" uniqKey="Ellard S" first="Sian" last="Ellard">Sian Ellard</name><affiliation wicri:level="1"><nlm:aff id="aff6"><institution>Department of Molecular Genetics</institution><addr-line>Royal Devon and Exeter Foundation Trust, Exeter, UK</addr-line></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Royal Devon and Exeter Foundation Trust, Exeter</wicri:regionArea><wicri:noRegion>Exeter</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:aff id="aff15"><institution>Institute of Biomedical and Clinical Science</institution><addr-line>University of Exeter Medical School, Exeter, UK</addr-line></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>University of Exeter Medical School, Exeter</wicri:regionArea><wicri:noRegion>Exeter</wicri:noRegion></affiliation></author><author><name sortKey="Trainer, Peter J" sort="Trainer, Peter J" uniqKey="Trainer P" first="Peter J" last="Trainer">Peter J. Trainer</name><affiliation wicri:level="3"><nlm:aff id="aff16"><institution>Department of Endocrinology</institution><addr-line>Christie Hospital, Manchester, UK</addr-line></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Christie Hospital, Manchester</wicri:regionArea><placeName><settlement type="city">Manchester</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Manchester</region></placeName></affiliation></author><author><name sortKey="Balding, David" sort="Balding, David" uniqKey="Balding D" first="David" last="Balding">David Balding</name><affiliation wicri:level="4"><nlm:aff id="aff4"><institution>Research Department of Genetics</institution><addr-line>Evolution and Environment, University College London, London, UK</addr-line></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Evolution and Environment, University College London, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region><settlement type="city">Londres</settlement></placeName><orgName type="university">University College de Londres</orgName></affiliation><affiliation wicri:level="4"><nlm:aff id="aff17"><institution>Centre for Systems Genomics</institution><addr-line>Schools of Biosciences and of Mathematics & Statistics, University of Melbourne, Melbourne, Australia</addr-line></nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>Schools of Biosciences and of Mathematics & Statistics, University of Melbourne, Melbourne</wicri:regionArea><placeName><settlement type="city">Melbourne</settlement><region type="état">Victoria (État)</region><settlement type="city">Melbourne</settlement></placeName><orgName type="university">Université de Melbourne</orgName></affiliation></author><author><name sortKey="Thomas, Mark G" sort="Thomas, Mark G" uniqKey="Thomas M" first="Mark G" last="Thomas">Mark G. Thomas</name><affiliation wicri:level="4"><nlm:aff id="aff4"><institution>Research Department of Genetics</institution><addr-line>Evolution and Environment, University College London, London, UK</addr-line></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Evolution and Environment, University College London, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region><settlement type="city">Londres</settlement></placeName><orgName type="university">University College de Londres</orgName></affiliation></author><author><name sortKey="Korbonits, Marta" sort="Korbonits, Marta" uniqKey="Korbonits M" first="Márta" last="Korbonits">Márta Korbonits</name><affiliation wicri:level="4"><nlm:aff id="aff2"><institution>William Harvey Research Institute</institution><addr-line>Barts and the London School of Medicine, Queen Mary University of London, London, UK</addr-line></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Barts and the London School of Medicine, Queen Mary University of London, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region><settlement type="city">Londres</settlement></placeName><orgName type="university">Université de Londres</orgName></affiliation></author></analytic><series><title level="j">European Journal of Endocrinology</title><idno type="ISSN">0804-4643</idno><idno type="eISSN">1479-683X</idno><imprint><date when="2017">2017</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Alleles</term><term>Amino Acid Sequence</term><term>Child</term><term>Female</term><term>France</term><term>Gigantism (diagnosis)</term><term>Gigantism (genetics)</term><term>HEK293 Cells</term><term>Humans</term><term>Intracellular Signaling Peptides and Proteins (chemistry)</term><term>Intracellular Signaling Peptides and Proteins (genetics)</term><term>Male</term><term>Pedigree</term><term>Protein Interaction Mapping (methods)</term><term>Protein Stability</term><term>Protein Structure, Secondary</term><term>United Kingdom</term><term>United States</term><term>Young Adult</term></keywords><keywords scheme="KwdFr" xml:lang="fr"><term>Adolescent</term><term>Adulte</term><term>Allèles</term><term>Cartographie d'interactions entre protéines ()</term><term>Cellules HEK293</term><term>Enfant</term><term>Femelle</term><term>France</term><term>Gigantisme (diagnostic)</term><term>Gigantisme (génétique)</term><term>Humains</term><term>Jeune adulte</term><term>Mâle</term><term>Pedigree</term><term>Protéines et peptides de signalisation intracellulaire ()</term><term>Protéines et peptides de signalisation intracellulaire (génétique)</term><term>Royaume-Uni</term><term>Stabilité protéique</term><term>Structure secondaire des protéines</term><term>Séquence d'acides aminés</term><term>États-Unis d'Amérique</term></keywords><keywords scheme="MESH" type="chemical" qualifier="chemistry" xml:lang="en"><term>Intracellular Signaling Peptides and Proteins</term></keywords><keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Gigantism</term></keywords><keywords scheme="MESH" qualifier="diagnostic" xml:lang="fr"><term>Gigantisme</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Gigantism</term><term>Intracellular Signaling Peptides and Proteins</term></keywords><keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Gigantisme</term><term>Protéines et peptides de signalisation intracellulaire</term></keywords><keywords scheme="MESH" qualifier="methods" xml:lang="en"><term>Protein Interaction Mapping</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Alleles</term><term>Amino Acid Sequence</term><term>Child</term><term>Female</term><term>France</term><term>HEK293 Cells</term><term>Humans</term><term>Male</term><term>Pedigree</term><term>Protein Stability</term><term>Protein Structure, Secondary</term><term>United Kingdom</term><term>United States</term><term>Young Adult</term></keywords><keywords scheme="MESH" xml:lang="fr"><term>Adolescent</term><term>Adulte</term><term>Allèles</term><term>Cartographie d'interactions entre protéines</term><term>Cellules HEK293</term><term>Enfant</term><term>Femelle</term><term>France</term><term>Humains</term><term>Jeune adulte</term><term>Mâle</term><term>Pedigree</term><term>Protéines et peptides de signalisation intracellulaire</term><term>Royaume-Uni</term><term>Stabilité protéique</term><term>Structure secondaire des protéines</term><term>Séquence d'acides aminés</term><term>États-Unis d'Amérique</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><sec><title>Objective</title><p>Mutations in the aryl hydrocarbon receptor-interacting protein (<italic>AIP</italic>) gene are associated with pituitary adenoma, acromegaly and gigantism. Identical alleles in unrelated pedigrees could be inherited from a common ancestor or result from recurrent mutation events.</p></sec><sec><title>Design and methods</title><p>Observational, inferential and experimental study, including: <italic>AIP</italic> mutation testing; reconstruction of 14 <italic>AIP</italic>-region (8.3 Mbp) haplotypes; coalescent-based approximate Bayesian estimation of the time to most recent common ancestor (tMRCA) of the derived allele; forward population simulations to estimate current number of allele carriers; proposal of mutation mechanism; protein structure predictions; co-immunoprecipitation and cycloheximide chase experiments.</p></sec><sec><title>Results</title><p>Nine European-origin, unrelated c.805_825dup-positive pedigrees (four familial, five sporadic from the UK, USA and France) included 16 affected (nine gigantism/four acromegaly/two non-functioning pituitary adenoma patients and one prospectively diagnosed acromegaly patient) and nine unaffected carriers. All pedigrees shared a 2.79 Mbp haploblock around <italic>AIP</italic> with additional haploblocks privately shared between subsets of the pedigrees, indicating the existence of an evolutionarily recent common ancestor, the ‘English founder’, with an estimated median tMRCA of 47 generations (corresponding to 1175 years) with a confidence interval (9–113 generations, equivalent to 225–2825 years). The mutation occurred in a small tandem repeat region predisposed to slipped strand mispairing. The resulting seven amino-acid duplication disrupts interaction with HSP90 and leads to a marked reduction in protein stability.</p></sec><sec><title>Conclusions</title><p>The c.805_825dup allele, originating from a common ancestor, associates with a severe clinical phenotype and a high frequency of gigantism. 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Cameron</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Toledo, Ra" uniqKey="Toledo R">RA Toledo</name></author><author><name sortKey="Lourenco, Dm" uniqKey="Lourenco D">DM Lourenco</name></author><author><name sortKey="Liberman, B" uniqKey="Liberman B">B Liberman</name></author><author><name sortKey="Cunha Neto, Mb" uniqKey="Cunha Neto M">MB Cunha-Neto</name></author><author><name sortKey="Cavalcanti, Mg" uniqKey="Cavalcanti M">MG Cavalcanti</name></author><author><name sortKey="Moyses, Cb" uniqKey="Moyses C">CB Moyses</name></author><author><name sortKey="Toledo, Sp" uniqKey="Toledo S">SP Toledo</name></author><author><name sortKey="Dahia, Pl" uniqKey="Dahia P">PL. Dahia</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Holliday, R" uniqKey="Holliday R">R Holliday</name></author><author><name sortKey="Grigg, Gw" uniqKey="Grigg G">GW. Grigg</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Thomas, Mg" uniqKey="Thomas M">MG Thomas</name></author><author><name sortKey="Cook, Ce" uniqKey="Cook C">CE Cook</name></author><author><name sortKey="Miller, Kw" uniqKey="Miller K">KW Miller</name></author><author><name sortKey="Waring, Mj" uniqKey="Waring M">MJ Waring</name></author><author><name sortKey="Hagelberg, E" uniqKey="Hagelberg E">E. Hagelberg</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Weale, Me" uniqKey="Weale M">ME Weale</name></author><author><name sortKey="Weiss, Da" uniqKey="Weiss D">DA Weiss</name></author><author><name sortKey="Jager, Rf" uniqKey="Jager R">RF Jager</name></author><author><name sortKey="Bradman, N" uniqKey="Bradman N">N Bradman</name></author><author><name sortKey="Thomas, Mg" uniqKey="Thomas M">MG. Thomas</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Tichomirowa, Ma" uniqKey="Tichomirowa M">MA Tichomirowa</name></author><author><name sortKey="Barlier, A" uniqKey="Barlier A">A Barlier</name></author><author><name sortKey="Daly, Af" uniqKey="Daly A">AF Daly</name></author><author><name sortKey="Jaffrain Rea, Ml" uniqKey="Jaffrain Rea M">ML Jaffrain-Rea</name></author><author><name sortKey="Ronchi, C" uniqKey="Ronchi C">C Ronchi</name></author><author><name sortKey="Yaneva, M" uniqKey="Yaneva M">M Yaneva</name></author><author><name sortKey="Urban, Jd" uniqKey="Urban J">JD Urban</name></author><author><name sortKey="Petrossians, P" uniqKey="Petrossians P">P Petrossians</name></author><author><name sortKey="Elenkova, A" uniqKey="Elenkova A">A Elenkova</name></author><author><name sortKey="Tabarin, A" uniqKey="Tabarin A">A Tabarin</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Cuny, T" uniqKey="Cuny T">T Cuny</name></author><author><name sortKey="Pertuit, M" uniqKey="Pertuit M">M Pertuit</name></author><author><name sortKey="Sahnoun Fathallah, M" uniqKey="Sahnoun Fathallah M">M Sahnoun-Fathallah</name></author><author><name sortKey="Daly, Af" uniqKey="Daly A">AF Daly</name></author><author><name sortKey="Occhi, G" uniqKey="Occhi G">G Occhi</name></author><author><name sortKey="Odou, Mf" uniqKey="Odou M">MF Odou</name></author><author><name sortKey="Tabarin, A" uniqKey="Tabarin A">A Tabarin</name></author><author><name sortKey="Nunes, Ml" uniqKey="Nunes M">ML Nunes</name></author><author><name sortKey="Delemer, B" uniqKey="Delemer B">B Delemer</name></author><author><name sortKey="Rohmer, V" uniqKey="Rohmer V">V Rohmer</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="David, A" uniqKey="David A">A David</name></author><author><name sortKey="Razali, R" uniqKey="Razali R">R Razali</name></author><author><name sortKey="Wass, Mn" uniqKey="Wass M">MN Wass</name></author><author><name sortKey="Sternberg, Mj" uniqKey="Sternberg M">MJ. Sternberg</name></author></analytic></biblStruct></listBibl></div1></back></TEI><affiliations><list><country><li>Australie</li><li>France</li><li>Roumanie</li><li>Royaume-Uni</li><li>États-Unis</li></country><region><li>Angleterre</li><li>Grand Londres</li><li>Grand Manchester</li><li>Maryland</li><li>Oxfordshire</li><li>Victoria (État)</li></region><settlement><li>Londres</li><li>Manchester</li><li>Melbourne</li><li>Oxford</li></settlement><orgName><li>University College de Londres</li><li>Université d'Oxford</li><li>Université de Londres</li><li>Université de Melbourne</li></orgName></list><tree><country name="États-Unis"><region name="Maryland"><name sortKey="Salvatori, Roberto" sort="Salvatori, Roberto" uniqKey="Salvatori R" first="Roberto" last="Salvatori">Roberto Salvatori</name></region><name sortKey="Corazzini, Valentina" sort="Corazzini, Valentina" uniqKey="Corazzini V" first="Valentina" last="Corazzini">Valentina Corazzini</name></country><country name="Royaume-Uni"><region name="Angleterre"><name sortKey="Radian, Serban" sort="Radian, Serban" uniqKey="Radian S" first="Serban" last="Radian">Serban Radian</name></region><name sortKey="Ansorge, Olaf" sort="Ansorge, Olaf" uniqKey="Ansorge O" first="Olaf" last="Ansorge">Olaf Ansorge</name><name sortKey="Baborie, Atik" sort="Baborie, Atik" uniqKey="Baborie A" first="Atik" last="Baborie">Atik Baborie</name><name sortKey="Balding, David" sort="Balding, David" uniqKey="Balding D" first="David" last="Balding">David Balding</name><name sortKey="Bussell, Anna Marie" sort="Bussell, Anna Marie" uniqKey="Bussell A" first="Anna-Marie" last="Bussell">Anna-Marie Bussell</name><name sortKey="Crowne, Elizabeth C" sort="Crowne, Elizabeth C" uniqKey="Crowne E" first="Elizabeth C" last="Crowne">Elizabeth C. Crowne</name><name sortKey="David, Alessia" sort="David, Alessia" uniqKey="David A" first="Alessia" last="David">Alessia David</name><name sortKey="Diekmann, Yoan" sort="Diekmann, Yoan" uniqKey="Diekmann Y" first="Yoan" last="Diekmann">Yoan Diekmann</name><name sortKey="Du Plessis, Daniel" sort="Du Plessis, Daniel" uniqKey="Du Plessis D" first="Daniel" last="Du Plessis">Daniel Du Plessis</name><name sortKey="Ellard, Sian" sort="Ellard, Sian" uniqKey="Ellard S" first="Sian" last="Ellard">Sian Ellard</name><name sortKey="Ellard, Sian" sort="Ellard, Sian" uniqKey="Ellard S" first="Sian" last="Ellard">Sian Ellard</name><name sortKey="Gabrovska, Plamena" sort="Gabrovska, Plamena" uniqKey="Gabrovska P" first="Plamena" last="Gabrovska">Plamena Gabrovska</name><name sortKey="Grassi, Giorgia" sort="Grassi, Giorgia" uniqKey="Grassi G" first="Giorgia" last="Grassi">Giorgia Grassi</name><name sortKey="Iacovazzo, Donato" sort="Iacovazzo, Donato" uniqKey="Iacovazzo D" first="Donato" last="Iacovazzo">Donato Iacovazzo</name><name sortKey="Kearney, Tara" sort="Kearney, Tara" uniqKey="Kearney T" first="Tara" last="Kearney">Tara Kearney</name><name sortKey="Korbonits, Marta" sort="Korbonits, Marta" uniqKey="Korbonits M" first="Márta" last="Korbonits">Márta Korbonits</name><name sortKey="Metherell, Lou" sort="Metherell, Lou" uniqKey="Metherell L" first="Lou" last="Metherell">Lou Metherell</name><name sortKey="Quinton, Richard" sort="Quinton, Richard" uniqKey="Quinton R" first="Richard" last="Quinton">Richard Quinton</name><name sortKey="Sinha, Ajay Kumar" sort="Sinha, Ajay Kumar" uniqKey="Sinha A" first="Ajay Kumar" last="Sinha">Ajay Kumar Sinha</name><name sortKey="Stals, Karen" sort="Stals, Karen" uniqKey="Stals K" first="Karen" last="Stals">Karen Stals</name><name sortKey="Thomas, Mark G" sort="Thomas, Mark G" uniqKey="Thomas M" first="Mark G" last="Thomas">Mark G. Thomas</name><name sortKey="Trainer, Peter J" sort="Trainer, Peter J" uniqKey="Trainer P" first="Peter J" last="Trainer">Peter J. Trainer</name><name sortKey="Weber, Astrid" sort="Weber, Astrid" uniqKey="Weber A" first="Astrid" last="Weber">Astrid Weber</name></country><country name="Roumanie"><noRegion><name sortKey="Radian, Serban" sort="Radian, Serban" uniqKey="Radian S" first="Serban" last="Radian">Serban Radian</name></noRegion></country><country name="France"><noRegion><name sortKey="Lecoq, Anne Lise" sort="Lecoq, Anne Lise" uniqKey="Lecoq A" first="Anne-Lise" last="Lecoq">Anne-Lise Lecoq</name></noRegion><name sortKey="Chanson, Philippe" sort="Chanson, Philippe" uniqKey="Chanson P" first="Philippe" last="Chanson">Philippe Chanson</name><name sortKey="Chanson, Philippe" sort="Chanson, Philippe" uniqKey="Chanson P" first="Philippe" last="Chanson">Philippe Chanson</name><name sortKey="Lecoq, Anne Lise" sort="Lecoq, Anne Lise" uniqKey="Lecoq A" first="Anne-Lise" last="Lecoq">Anne-Lise Lecoq</name></country><country name="Australie"><region name="Victoria (État)"><name sortKey="Balding, David" sort="Balding, David" uniqKey="Balding D" first="David" last="Balding">David Balding</name></region></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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