Frameshift mutation in p53 regulator RPL26 is associated with multiple physical abnormalities and a specific pre‐ribosomal RNA processing defect in diamond–blackfan anemia
Identifieur interne : 000717 ( Istex/Curation ); précédent : 000716; suivant : 000718Frameshift mutation in p53 regulator RPL26 is associated with multiple physical abnormalities and a specific pre‐ribosomal RNA processing defect in diamond–blackfan anemia
Auteurs : Hanna T. Gazda [États-Unis, France] ; Milena Preti [France] ; Mee Rie Sheen [États-Unis] ; Marie-Françoise O'Donohue [France] ; Adrianna Vlachos [États-Unis] ; Stella M. Davies [États-Unis] ; Antonis Kattamis [Grèce] ; Leana Doherty [États-Unis] ; Michael Landowski [États-Unis] ; Christopher Buros [États-Unis] ; Roxanne Ghazvinian [États-Unis] ; Colin A. Sieff [États-Unis] ; Peter E. Newburger [États-Unis] ; Edyta Niewiadomska [Pologne] ; Michal Matysiak [Pologne] ; Bertil Glader [États-Unis] ; Eva Atsidaftos [États-Unis] ; Jeffrey M. Lipton [États-Unis] ; Pierre-Emmanuel Gleizes [France] ; Alan H. Beggs [États-Unis]Source :
- Human Mutation [ 1059-7794 ] ; 2012-07.
Abstract
Diamond–Blackfan anemia (DBA) is an inherited form of pure red cell aplasia that usually presents in infancy or early childhood and is associated with congenital malformations in ∼30–50% of patients. DBA has been associated with mutations in nine ribosomal protein (RP) genes in about 53% of patients. We completed a large‐scale screen of 79 RP genes by sequencing 16 RP genes (RPL3, RPL7, RPL8, RPL10, RPL14, RPL17, RPL19, RPL23A, RPL26, RPL27, RPL35, RPL36A, RPL39, RPS4X, RPS4Y1, and RPS21) in 96 DBA probands. We identified a de novo two‐nucleotide deletion in RPL26 in one proband associated with multiple severe physical abnormalities. This mutation gives rise to a remarkable ribosome biogenesis defect that affects maturation of both the small and the large subunits. We also found a deletion in RPL19 and missense mutations in RPL3 and RPL23A, which may be variants of unknown significance. Together with RPL5, RPL11, and RPS7, RPL26 is the fourth RP regulating p53 activity that is linked to DBA. Hum Mutat 33:1037–1044, 2012. © 2012 Wiley Periodicals, Inc.
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DOI: 10.1002/humu.22081
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Gazda</name><affiliation wicri:level="2"><mods:affiliation>Division of Genetics and Program in Genomics, The Manton Center for Orphan Disease Research, Children's Hospital Boston, Boston, Massachusetts</mods:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">Massachusetts</region></placeName><wicri:cityArea>Division of Genetics and Program in Genomics, The Manton Center for Orphan Disease Research, Children's Hospital Boston, Boston</wicri:cityArea></affiliation><affiliation wicri:level="2"><mods:affiliation>Harvard Medical School, Boston, Massachusetts</mods:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">Massachusetts</region></placeName><wicri:cityArea>Harvard Medical School, Boston</wicri:cityArea></affiliation><affiliation wicri:level="1"><mods:affiliation>E-mail: hanna.gazda@childrens.harvard.edu</mods:affiliation><country wicri:rule="url">États-Unis</country></affiliation><affiliation wicri:level="1"><mods:affiliation>Hanna T. Gazda, Division of Genetics and Program in Genomics, The Manton Center for Orphan Disease Research, Children's Hospital Boston, 3 Blackfan Circle, Boston, Massachusetts 02115w.Pierre‐Emmanuel Gleizes, Laboratoire de Biologie Moleculaire Eucaryote, Universite de Toulouse, Toulouse, France.</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Hanna T. Gazda, Division of Genetics and Program in Genomics, The Manton Center for Orphan Disease Research, Children's Hospital Boston, 3 Blackfan Circle, Boston, Massachusetts 02115w.Pierre‐Emmanuel Gleizes, Laboratoire de Biologie Moleculaire Eucaryote, Universite de Toulouse, Toulouse</wicri:regionArea></affiliation></author><author><name sortKey="Preti, Milena" sort="Preti, Milena" uniqKey="Preti M" first="Milena" last="Preti">Milena Preti</name><affiliation wicri:level="1"><mods:affiliation>Laboratoire de Biologie Moleculaire Eucaryote, UPS, Universite de Toulouse, Toulouse, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Laboratoire de Biologie Moleculaire Eucaryote, UPS, Universite de Toulouse, Toulouse</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>Centre National de la Recherche Scientifique, UMR 5099, Toulouse, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Centre National de la Recherche Scientifique, UMR 5099, Toulouse</wicri:regionArea></affiliation></author><author><name sortKey="Sheen, Mee Rie" sort="Sheen, Mee Rie" uniqKey="Sheen M" first="Mee Rie" last="Sheen">Mee Rie Sheen</name><affiliation wicri:level="2"><mods:affiliation>Division of Genetics and Program in Genomics, The Manton Center for Orphan Disease Research, Children's Hospital Boston, Boston, Massachusetts</mods:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">Massachusetts</region></placeName><wicri:cityArea>Division of Genetics and Program in Genomics, The Manton Center for Orphan Disease Research, Children's Hospital Boston, Boston</wicri:cityArea></affiliation></author><author><name sortKey="O Donohue, Marie Rancoise" sort="O Donohue, Marie Rancoise" uniqKey="O Donohue M" first="Marie-Françoise" last="O'Donohue">Marie-Françoise O'Donohue</name><affiliation wicri:level="1"><mods:affiliation>Laboratoire de Biologie Moleculaire Eucaryote, UPS, Universite de Toulouse, Toulouse, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Laboratoire de Biologie Moleculaire Eucaryote, UPS, Universite de Toulouse, Toulouse</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>Centre National de la Recherche Scientifique, UMR 5099, Toulouse, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Centre National de la Recherche Scientifique, UMR 5099, Toulouse</wicri:regionArea></affiliation></author><author><name sortKey="Vlachos, Adrianna" sort="Vlachos, Adrianna" uniqKey="Vlachos A" first="Adrianna" last="Vlachos">Adrianna Vlachos</name><affiliation wicri:level="2"><mods:affiliation>Feinstein Institute for Medical Research, Manhasset, New York</mods:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">État de New York</region></placeName><wicri:cityArea>Feinstein Institute for Medical Research, Manhasset</wicri:cityArea></affiliation><affiliation wicri:level="2"><mods:affiliation>Division of Hematology/Oncology and Stem Cell Transplantation, Steven and Alexandra Cohen Children's Medical Center, New Hyde Park, New York</mods:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">État de New York</region></placeName><wicri:cityArea>Division of Hematology/Oncology and Stem Cell Transplantation, Steven and Alexandra Cohen Children's Medical Center, New Hyde Park</wicri:cityArea></affiliation></author><author><name sortKey="Davies, Stella M" sort="Davies, Stella M" uniqKey="Davies S" first="Stella M." last="Davies">Stella M. Davies</name><affiliation wicri:level="2"><mods:affiliation>Division of Bone Marrow Transplantation and Immune Deficiency, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio</mods:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">Ohio</region></placeName><wicri:cityArea>Division of Bone Marrow Transplantation and Immune Deficiency, Cincinnati Children's Hospital Medical Center, Cincinnati</wicri:cityArea></affiliation></author><author><name sortKey="Kattamis, Antonis" sort="Kattamis, Antonis" uniqKey="Kattamis A" first="Antonis" last="Kattamis">Antonis Kattamis</name><affiliation wicri:level="1"><mods:affiliation>First Department of Pediatrics, Agia Sofia Children's Hospital, University of Athens, Athens, Greece</mods:affiliation><country xml:lang="fr">Grèce</country><wicri:regionArea>First Department of Pediatrics, Agia Sofia Children's Hospital, University of Athens, Athens</wicri:regionArea></affiliation></author><author><name sortKey="Doherty, Leana" sort="Doherty, Leana" uniqKey="Doherty L" first="Leana" last="Doherty">Leana Doherty</name><affiliation wicri:level="2"><mods:affiliation>Division of Genetics and Program in Genomics, The Manton Center for Orphan Disease Research, Children's Hospital Boston, Boston, Massachusetts</mods:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">Massachusetts</region></placeName><wicri:cityArea>Division of Genetics and Program in Genomics, The Manton Center for Orphan Disease Research, Children's Hospital Boston, Boston</wicri:cityArea></affiliation></author><author><name sortKey="Landowski, Michael" sort="Landowski, Michael" uniqKey="Landowski M" first="Michael" last="Landowski">Michael Landowski</name><affiliation wicri:level="2"><mods:affiliation>Division of Genetics and Program in Genomics, The Manton Center for Orphan Disease Research, Children's Hospital Boston, Boston, Massachusetts</mods:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">Massachusetts</region></placeName><wicri:cityArea>Division of Genetics and Program in Genomics, The Manton Center for Orphan Disease Research, Children's Hospital Boston, Boston</wicri:cityArea></affiliation></author><author><name sortKey="Buros, Christopher" sort="Buros, Christopher" uniqKey="Buros C" first="Christopher" last="Buros">Christopher Buros</name><affiliation wicri:level="2"><mods:affiliation>Division of Genetics and Program in Genomics, The Manton Center for Orphan Disease Research, Children's Hospital Boston, Boston, Massachusetts</mods:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">Massachusetts</region></placeName><wicri:cityArea>Division of Genetics and Program in Genomics, The Manton Center for Orphan Disease Research, Children's Hospital Boston, Boston</wicri:cityArea></affiliation></author><author><name sortKey="Ghazvinian, Roxanne" sort="Ghazvinian, Roxanne" uniqKey="Ghazvinian R" first="Roxanne" last="Ghazvinian">Roxanne Ghazvinian</name><affiliation wicri:level="2"><mods:affiliation>Division of Genetics and Program in Genomics, The Manton Center for Orphan Disease Research, Children's Hospital Boston, Boston, Massachusetts</mods:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">Massachusetts</region></placeName><wicri:cityArea>Division of Genetics and Program in Genomics, The Manton Center for Orphan Disease Research, Children's Hospital Boston, Boston</wicri:cityArea></affiliation></author><author><name sortKey="Sieff, Colin A" sort="Sieff, Colin A" uniqKey="Sieff C" first="Colin A." last="Sieff">Colin A. Sieff</name><affiliation wicri:level="2"><mods:affiliation>Harvard Medical School, Boston, Massachusetts</mods:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">Massachusetts</region></placeName><wicri:cityArea>Harvard Medical School, Boston</wicri:cityArea></affiliation><affiliation wicri:level="2"><mods:affiliation>Division of Pediatric Hematology, Children's Hospital Boston, Boston, Massachusetts</mods:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">Massachusetts</region></placeName><wicri:cityArea>Division of Pediatric Hematology, Children's Hospital Boston, Boston</wicri:cityArea></affiliation></author><author><name sortKey="Newburger, Peter E" sort="Newburger, Peter E" uniqKey="Newburger P" first="Peter E." last="Newburger">Peter E. Newburger</name><affiliation wicri:level="2"><mods:affiliation>Department of Pediatrics, University of Massachusetts Medical School, Worcester, Massachusetts</mods:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">Massachusetts</region></placeName><wicri:cityArea>Department of Pediatrics, University of Massachusetts Medical School, Worcester</wicri:cityArea></affiliation></author><author><name sortKey="Niewiadomska, Edyta" sort="Niewiadomska, Edyta" uniqKey="Niewiadomska E" first="Edyta" last="Niewiadomska">Edyta Niewiadomska</name><affiliation wicri:level="1"><mods:affiliation>Department of Pediatric Hematology/Oncology, Medical University of Warsaw, Warsaw, Poland</mods:affiliation><country xml:lang="fr">Pologne</country><wicri:regionArea>Department of Pediatric Hematology/Oncology, Medical University of Warsaw, Warsaw</wicri:regionArea></affiliation></author><author><name sortKey="Matysiak, Michal" sort="Matysiak, Michal" uniqKey="Matysiak M" first="Michal" last="Matysiak">Michal Matysiak</name><affiliation wicri:level="1"><mods:affiliation>Department of Pediatric Hematology/Oncology, Medical University of Warsaw, Warsaw, Poland</mods:affiliation><country xml:lang="fr">Pologne</country><wicri:regionArea>Department of Pediatric Hematology/Oncology, Medical University of Warsaw, Warsaw</wicri:regionArea></affiliation></author><author><name sortKey="Glader, Bertil" sort="Glader, Bertil" uniqKey="Glader B" first="Bertil" last="Glader">Bertil Glader</name><affiliation wicri:level="2"><mods:affiliation>Division of Pediatric Hematology/Oncology, Stanford University School of Medicine, Stanford, California</mods:affiliation><country>États-Unis</country><placeName><region type="state">Californie</region></placeName><wicri:cityArea>Division of Pediatric Hematology/Oncology, Stanford University School of Medicine, Stanford</wicri:cityArea></affiliation></author><author><name sortKey="Atsidaftos, Eva" sort="Atsidaftos, Eva" uniqKey="Atsidaftos E" first="Eva" last="Atsidaftos">Eva Atsidaftos</name><affiliation wicri:level="2"><mods:affiliation>Feinstein Institute for Medical Research, Manhasset, New York</mods:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">État de New York</region></placeName><wicri:cityArea>Feinstein Institute for Medical Research, Manhasset</wicri:cityArea></affiliation><affiliation wicri:level="2"><mods:affiliation>Division of Hematology/Oncology and Stem Cell Transplantation, Steven and Alexandra Cohen Children's Medical Center, New Hyde Park, New York</mods:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">État de New York</region></placeName><wicri:cityArea>Division of Hematology/Oncology and Stem Cell Transplantation, Steven and Alexandra Cohen Children's Medical Center, New Hyde Park</wicri:cityArea></affiliation></author><author><name sortKey="Lipton, Jeffrey M" sort="Lipton, Jeffrey M" uniqKey="Lipton J" first="Jeffrey M." last="Lipton">Jeffrey M. Lipton</name><affiliation wicri:level="2"><mods:affiliation>Feinstein Institute for Medical Research, Manhasset, New York</mods:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">État de New York</region></placeName><wicri:cityArea>Feinstein Institute for Medical Research, Manhasset</wicri:cityArea></affiliation><affiliation wicri:level="2"><mods:affiliation>Division of Hematology/Oncology and Stem Cell Transplantation, Steven and Alexandra Cohen Children's Medical Center, New Hyde Park, New York</mods:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">État de New York</region></placeName><wicri:cityArea>Division of Hematology/Oncology and Stem Cell Transplantation, Steven and Alexandra Cohen Children's Medical Center, New Hyde Park</wicri:cityArea></affiliation></author><author><name sortKey="Gleizes, Pierre Mmanuel" sort="Gleizes, Pierre Mmanuel" uniqKey="Gleizes P" first="Pierre-Emmanuel" last="Gleizes">Pierre-Emmanuel Gleizes</name><affiliation wicri:level="1"><mods:affiliation>Laboratoire de Biologie Moleculaire Eucaryote, UPS, Universite de Toulouse, Toulouse, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Laboratoire de Biologie Moleculaire Eucaryote, UPS, Universite de Toulouse, Toulouse</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>Centre National de la Recherche Scientifique, UMR 5099, Toulouse, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Centre National de la Recherche Scientifique, UMR 5099, Toulouse</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>E-mail: gleizes@biotoul.fr</mods:affiliation><country wicri:rule="url">France</country></affiliation><affiliation wicri:level="1"><mods:affiliation>Hanna T. Gazda, Division of Genetics and Program in Genomics, The Manton Center for Orphan Disease Research, Children's Hospital Boston, 3 Blackfan Circle, Boston, Massachusetts 02115w.Pierre‐Emmanuel Gleizes, Laboratoire de Biologie Moleculaire Eucaryote, Universite de Toulouse, Toulouse, France.</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Hanna T. Gazda, Division of Genetics and Program in Genomics, The Manton Center for Orphan Disease Research, Children's Hospital Boston, 3 Blackfan Circle, Boston, Massachusetts 02115w.Pierre‐Emmanuel Gleizes, Laboratoire de Biologie Moleculaire Eucaryote, Universite de Toulouse, Toulouse</wicri:regionArea></affiliation></author><author><name sortKey="Beggs, Alan H" sort="Beggs, Alan H" uniqKey="Beggs A" first="Alan H." last="Beggs">Alan H. Beggs</name><affiliation wicri:level="2"><mods:affiliation>Division of Genetics and Program in Genomics, The Manton Center for Orphan Disease Research, Children's Hospital Boston, Boston, Massachusetts</mods:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">Massachusetts</region></placeName><wicri:cityArea>Division of Genetics and Program in Genomics, The Manton Center for Orphan Disease Research, Children's Hospital Boston, Boston</wicri:cityArea></affiliation><affiliation wicri:level="2"><mods:affiliation>Harvard Medical School, Boston, Massachusetts</mods:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">Massachusetts</region></placeName><wicri:cityArea>Harvard Medical School, Boston</wicri:cityArea></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">ISTEX</idno><idno type="RBID">ISTEX:11CE4D30DBEF1DAD9F7F176B49286158BD06834C</idno><date when="2012" year="2012">2012</date><idno type="doi">10.1002/humu.22081</idno><idno type="url">https://api.istex.fr/ark:/67375/WNG-4SKKG7PZ-2/fulltext.pdf</idno><idno type="wicri:Area/Istex/Corpus">000717</idno><idno type="wicri:explorRef" wicri:stream="Istex" wicri:step="Corpus" wicri:corpus="ISTEX">000717</idno><idno type="wicri:Area/Istex/Curation">000717</idno></publicationStmt><sourceDesc><biblStruct><analytic><title level="a" type="main">Frameshift mutation in p53 regulator RPL26 is associated with multiple physical abnormalities and a specific pre‐ribosomal RNA processing defect in diamond–blackfan anemia</title><author><name sortKey="Gazda, Hanna T" sort="Gazda, Hanna T" uniqKey="Gazda H" first="Hanna T." last="Gazda">Hanna T. Gazda</name><affiliation wicri:level="2"><mods:affiliation>Division of Genetics and Program in Genomics, The Manton Center for Orphan Disease Research, Children's Hospital Boston, Boston, Massachusetts</mods:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">Massachusetts</region></placeName><wicri:cityArea>Division of Genetics and Program in Genomics, The Manton Center for Orphan Disease Research, Children's Hospital Boston, Boston</wicri:cityArea></affiliation><affiliation wicri:level="2"><mods:affiliation>Harvard Medical School, Boston, Massachusetts</mods:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">Massachusetts</region></placeName><wicri:cityArea>Harvard Medical School, Boston</wicri:cityArea></affiliation><affiliation wicri:level="1"><mods:affiliation>E-mail: hanna.gazda@childrens.harvard.edu</mods:affiliation><country wicri:rule="url">États-Unis</country></affiliation><affiliation wicri:level="1"><mods:affiliation>Hanna T. Gazda, Division of Genetics and Program in Genomics, The Manton Center for Orphan Disease Research, Children's Hospital Boston, 3 Blackfan Circle, Boston, Massachusetts 02115w.Pierre‐Emmanuel Gleizes, Laboratoire de Biologie Moleculaire Eucaryote, Universite de Toulouse, Toulouse, France.</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Hanna T. Gazda, Division of Genetics and Program in Genomics, The Manton Center for Orphan Disease Research, Children's Hospital Boston, 3 Blackfan Circle, Boston, Massachusetts 02115w.Pierre‐Emmanuel Gleizes, Laboratoire de Biologie Moleculaire Eucaryote, Universite de Toulouse, Toulouse</wicri:regionArea></affiliation></author><author><name sortKey="Preti, Milena" sort="Preti, Milena" uniqKey="Preti M" first="Milena" last="Preti">Milena Preti</name><affiliation wicri:level="1"><mods:affiliation>Laboratoire de Biologie Moleculaire Eucaryote, UPS, Universite de Toulouse, Toulouse, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Laboratoire de Biologie Moleculaire Eucaryote, UPS, Universite de Toulouse, Toulouse</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>Centre National de la Recherche Scientifique, UMR 5099, Toulouse, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Centre National de la Recherche Scientifique, UMR 5099, Toulouse</wicri:regionArea></affiliation></author><author><name sortKey="Sheen, Mee Rie" sort="Sheen, Mee Rie" uniqKey="Sheen M" first="Mee Rie" last="Sheen">Mee Rie Sheen</name><affiliation wicri:level="2"><mods:affiliation>Division of Genetics and Program in Genomics, The Manton Center for Orphan Disease Research, Children's Hospital Boston, Boston, Massachusetts</mods:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">Massachusetts</region></placeName><wicri:cityArea>Division of Genetics and Program in Genomics, The Manton Center for Orphan Disease Research, Children's Hospital Boston, Boston</wicri:cityArea></affiliation></author><author><name sortKey="O Donohue, Marie Rancoise" sort="O Donohue, Marie Rancoise" uniqKey="O Donohue M" first="Marie-Françoise" last="O'Donohue">Marie-Françoise O'Donohue</name><affiliation wicri:level="1"><mods:affiliation>Laboratoire de Biologie Moleculaire Eucaryote, UPS, Universite de Toulouse, Toulouse, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Laboratoire de Biologie Moleculaire Eucaryote, UPS, Universite de Toulouse, Toulouse</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>Centre National de la Recherche Scientifique, UMR 5099, Toulouse, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Centre National de la Recherche Scientifique, UMR 5099, Toulouse</wicri:regionArea></affiliation></author><author><name sortKey="Vlachos, Adrianna" sort="Vlachos, Adrianna" uniqKey="Vlachos A" first="Adrianna" last="Vlachos">Adrianna Vlachos</name><affiliation wicri:level="2"><mods:affiliation>Feinstein Institute for Medical Research, Manhasset, New York</mods:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">État de New York</region></placeName><wicri:cityArea>Feinstein Institute for Medical Research, Manhasset</wicri:cityArea></affiliation><affiliation wicri:level="2"><mods:affiliation>Division of Hematology/Oncology and Stem Cell Transplantation, Steven and Alexandra Cohen Children's Medical Center, New Hyde Park, New York</mods:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">État de New York</region></placeName><wicri:cityArea>Division of Hematology/Oncology and Stem Cell Transplantation, Steven and Alexandra Cohen Children's Medical Center, New Hyde Park</wicri:cityArea></affiliation></author><author><name sortKey="Davies, Stella M" sort="Davies, Stella M" uniqKey="Davies S" first="Stella M." last="Davies">Stella M. Davies</name><affiliation wicri:level="2"><mods:affiliation>Division of Bone Marrow Transplantation and Immune Deficiency, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio</mods:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">Ohio</region></placeName><wicri:cityArea>Division of Bone Marrow Transplantation and Immune Deficiency, Cincinnati Children's Hospital Medical Center, Cincinnati</wicri:cityArea></affiliation></author><author><name sortKey="Kattamis, Antonis" sort="Kattamis, Antonis" uniqKey="Kattamis A" first="Antonis" last="Kattamis">Antonis Kattamis</name><affiliation wicri:level="1"><mods:affiliation>First Department of Pediatrics, Agia Sofia Children's Hospital, University of Athens, Athens, Greece</mods:affiliation><country xml:lang="fr">Grèce</country><wicri:regionArea>First Department of Pediatrics, Agia Sofia Children's Hospital, University of Athens, Athens</wicri:regionArea></affiliation></author><author><name sortKey="Doherty, Leana" sort="Doherty, Leana" uniqKey="Doherty L" first="Leana" last="Doherty">Leana Doherty</name><affiliation wicri:level="2"><mods:affiliation>Division of Genetics and Program in Genomics, The Manton Center for Orphan Disease Research, Children's Hospital Boston, Boston, Massachusetts</mods:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">Massachusetts</region></placeName><wicri:cityArea>Division of Genetics and Program in Genomics, The Manton Center for Orphan Disease Research, Children's Hospital Boston, Boston</wicri:cityArea></affiliation></author><author><name sortKey="Landowski, Michael" sort="Landowski, Michael" uniqKey="Landowski M" first="Michael" last="Landowski">Michael Landowski</name><affiliation wicri:level="2"><mods:affiliation>Division of Genetics and Program in Genomics, The Manton Center for Orphan Disease Research, Children's Hospital Boston, Boston, Massachusetts</mods:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">Massachusetts</region></placeName><wicri:cityArea>Division of Genetics and Program in Genomics, The Manton Center for Orphan Disease Research, Children's Hospital Boston, Boston</wicri:cityArea></affiliation></author><author><name sortKey="Buros, Christopher" sort="Buros, Christopher" uniqKey="Buros C" first="Christopher" last="Buros">Christopher Buros</name><affiliation wicri:level="2"><mods:affiliation>Division of Genetics and Program in Genomics, The Manton Center for Orphan Disease Research, Children's Hospital Boston, Boston, Massachusetts</mods:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">Massachusetts</region></placeName><wicri:cityArea>Division of Genetics and Program in Genomics, The Manton Center for Orphan Disease Research, Children's Hospital Boston, Boston</wicri:cityArea></affiliation></author><author><name sortKey="Ghazvinian, Roxanne" sort="Ghazvinian, Roxanne" uniqKey="Ghazvinian R" first="Roxanne" last="Ghazvinian">Roxanne Ghazvinian</name><affiliation wicri:level="2"><mods:affiliation>Division of Genetics and Program in Genomics, The Manton Center for Orphan Disease Research, Children's Hospital Boston, Boston, Massachusetts</mods:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">Massachusetts</region></placeName><wicri:cityArea>Division of Genetics and Program in Genomics, The Manton Center for Orphan Disease Research, Children's Hospital Boston, Boston</wicri:cityArea></affiliation></author><author><name sortKey="Sieff, Colin A" sort="Sieff, Colin A" uniqKey="Sieff C" first="Colin A." last="Sieff">Colin A. Sieff</name><affiliation wicri:level="2"><mods:affiliation>Harvard Medical School, Boston, Massachusetts</mods:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">Massachusetts</region></placeName><wicri:cityArea>Harvard Medical School, Boston</wicri:cityArea></affiliation><affiliation wicri:level="2"><mods:affiliation>Division of Pediatric Hematology, Children's Hospital Boston, Boston, Massachusetts</mods:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">Massachusetts</region></placeName><wicri:cityArea>Division of Pediatric Hematology, Children's Hospital Boston, Boston</wicri:cityArea></affiliation></author><author><name sortKey="Newburger, Peter E" sort="Newburger, Peter E" uniqKey="Newburger P" first="Peter E." last="Newburger">Peter E. Newburger</name><affiliation wicri:level="2"><mods:affiliation>Department of Pediatrics, University of Massachusetts Medical School, Worcester, Massachusetts</mods:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">Massachusetts</region></placeName><wicri:cityArea>Department of Pediatrics, University of Massachusetts Medical School, Worcester</wicri:cityArea></affiliation></author><author><name sortKey="Niewiadomska, Edyta" sort="Niewiadomska, Edyta" uniqKey="Niewiadomska E" first="Edyta" last="Niewiadomska">Edyta Niewiadomska</name><affiliation wicri:level="1"><mods:affiliation>Department of Pediatric Hematology/Oncology, Medical University of Warsaw, Warsaw, Poland</mods:affiliation><country xml:lang="fr">Pologne</country><wicri:regionArea>Department of Pediatric Hematology/Oncology, Medical University of Warsaw, Warsaw</wicri:regionArea></affiliation></author><author><name sortKey="Matysiak, Michal" sort="Matysiak, Michal" uniqKey="Matysiak M" first="Michal" last="Matysiak">Michal Matysiak</name><affiliation wicri:level="1"><mods:affiliation>Department of Pediatric Hematology/Oncology, Medical University of Warsaw, Warsaw, Poland</mods:affiliation><country xml:lang="fr">Pologne</country><wicri:regionArea>Department of Pediatric Hematology/Oncology, Medical University of Warsaw, Warsaw</wicri:regionArea></affiliation></author><author><name sortKey="Glader, Bertil" sort="Glader, Bertil" uniqKey="Glader B" first="Bertil" last="Glader">Bertil Glader</name><affiliation wicri:level="2"><mods:affiliation>Division of Pediatric Hematology/Oncology, Stanford University School of Medicine, Stanford, California</mods:affiliation><country>États-Unis</country><placeName><region type="state">Californie</region></placeName><wicri:cityArea>Division of Pediatric Hematology/Oncology, Stanford University School of Medicine, Stanford</wicri:cityArea></affiliation></author><author><name sortKey="Atsidaftos, Eva" sort="Atsidaftos, Eva" uniqKey="Atsidaftos E" first="Eva" last="Atsidaftos">Eva Atsidaftos</name><affiliation wicri:level="2"><mods:affiliation>Feinstein Institute for Medical Research, Manhasset, New York</mods:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">État de New York</region></placeName><wicri:cityArea>Feinstein Institute for Medical Research, Manhasset</wicri:cityArea></affiliation><affiliation wicri:level="2"><mods:affiliation>Division of Hematology/Oncology and Stem Cell Transplantation, Steven and Alexandra Cohen Children's Medical Center, New Hyde Park, New York</mods:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">État de New York</region></placeName><wicri:cityArea>Division of Hematology/Oncology and Stem Cell Transplantation, Steven and Alexandra Cohen Children's Medical Center, New Hyde Park</wicri:cityArea></affiliation></author><author><name sortKey="Lipton, Jeffrey M" sort="Lipton, Jeffrey M" uniqKey="Lipton J" first="Jeffrey M." last="Lipton">Jeffrey M. Lipton</name><affiliation wicri:level="2"><mods:affiliation>Feinstein Institute for Medical Research, Manhasset, New York</mods:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">État de New York</region></placeName><wicri:cityArea>Feinstein Institute for Medical Research, Manhasset</wicri:cityArea></affiliation><affiliation wicri:level="2"><mods:affiliation>Division of Hematology/Oncology and Stem Cell Transplantation, Steven and Alexandra Cohen Children's Medical Center, New Hyde Park, New York</mods:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">État de New York</region></placeName><wicri:cityArea>Division of Hematology/Oncology and Stem Cell Transplantation, Steven and Alexandra Cohen Children's Medical Center, New Hyde Park</wicri:cityArea></affiliation></author><author><name sortKey="Gleizes, Pierre Mmanuel" sort="Gleizes, Pierre Mmanuel" uniqKey="Gleizes P" first="Pierre-Emmanuel" last="Gleizes">Pierre-Emmanuel Gleizes</name><affiliation wicri:level="1"><mods:affiliation>Laboratoire de Biologie Moleculaire Eucaryote, UPS, Universite de Toulouse, Toulouse, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Laboratoire de Biologie Moleculaire Eucaryote, UPS, Universite de Toulouse, Toulouse</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>Centre National de la Recherche Scientifique, UMR 5099, Toulouse, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Centre National de la Recherche Scientifique, UMR 5099, Toulouse</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>E-mail: gleizes@biotoul.fr</mods:affiliation><country wicri:rule="url">France</country></affiliation><affiliation wicri:level="1"><mods:affiliation>Hanna T. Gazda, Division of Genetics and Program in Genomics, The Manton Center for Orphan Disease Research, Children's Hospital Boston, 3 Blackfan Circle, Boston, Massachusetts 02115w.Pierre‐Emmanuel Gleizes, Laboratoire de Biologie Moleculaire Eucaryote, Universite de Toulouse, Toulouse, France.</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Hanna T. Gazda, Division of Genetics and Program in Genomics, The Manton Center for Orphan Disease Research, Children's Hospital Boston, 3 Blackfan Circle, Boston, Massachusetts 02115w.Pierre‐Emmanuel Gleizes, Laboratoire de Biologie Moleculaire Eucaryote, Universite de Toulouse, Toulouse</wicri:regionArea></affiliation></author><author><name sortKey="Beggs, Alan H" sort="Beggs, Alan H" uniqKey="Beggs A" first="Alan H." last="Beggs">Alan H. Beggs</name><affiliation wicri:level="2"><mods:affiliation>Division of Genetics and Program in Genomics, The Manton Center for Orphan Disease Research, Children's Hospital Boston, Boston, Massachusetts</mods:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">Massachusetts</region></placeName><wicri:cityArea>Division of Genetics and Program in Genomics, The Manton Center for Orphan Disease Research, Children's Hospital Boston, Boston</wicri:cityArea></affiliation><affiliation wicri:level="2"><mods:affiliation>Harvard Medical School, Boston, Massachusetts</mods:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">Massachusetts</region></placeName><wicri:cityArea>Harvard Medical School, Boston</wicri:cityArea></affiliation></author></analytic><monogr></monogr><series><title level="j" type="main">Human Mutation</title><title level="j" type="alt">HUMAN MUTATION</title><idno type="ISSN">1059-7794</idno><idno type="eISSN">1098-1004</idno><imprint><biblScope unit="vol">33</biblScope><biblScope unit="issue">7</biblScope><biblScope unit="page" from="1037">1037</biblScope><biblScope unit="page" to="1044">1044</biblScope><biblScope unit="page-count">8</biblScope><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2012-07">2012-07</date></imprint><idno type="ISSN">1059-7794</idno></series></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">1059-7794</idno></seriesStmt></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Diamond–Blackfan anemia (DBA) is an inherited form of pure red cell aplasia that usually presents in infancy or early childhood and is associated with congenital malformations in ∼30–50% of patients. DBA has been associated with mutations in nine ribosomal protein (RP) genes in about 53% of patients. We completed a large‐scale screen of 79 RP genes by sequencing 16 RP genes (RPL3, RPL7, RPL8, RPL10, RPL14, RPL17, RPL19, RPL23A, RPL26, RPL27, RPL35, RPL36A, RPL39, RPS4X, RPS4Y1, and RPS21) in 96 DBA probands. We identified a de novo two‐nucleotide deletion in RPL26 in one proband associated with multiple severe physical abnormalities. This mutation gives rise to a remarkable ribosome biogenesis defect that affects maturation of both the small and the large subunits. We also found a deletion in RPL19 and missense mutations in RPL3 and RPL23A, which may be variants of unknown significance. Together with RPL5, RPL11, and RPS7, RPL26 is the fourth RP regulating p53 activity that is linked to DBA. Hum Mutat 33:1037–1044, 2012. © 2012 Wiley Periodicals, Inc.</div></front></TEI></record>Pour manipuler ce document sous Unix (Dilib)
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|texte= Frameshift mutation in p53 regulator RPL26 is associated with multiple physical abnormalities and a specific pre‐ribosomal RNA processing defect in diamond–blackfan anemia
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