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 : 002374 ( Main/Exploration ); précédent : 002373; suivant : 002375Frameshift 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.
Url:
DOI: 10.1002/humu.22081
Affiliations:
- France, Grèce, Pologne, États-Unis
- Attique (région), Californie, Massachusetts, Midi-Pyrénées, Occitanie (région administrative), Ohio, État de New York
- Athènes, Toulouse
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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><placeName><region type="region">Occitanie (région administrative)</region><region type="old region">Midi-Pyrénées</region><settlement type="city">Toulouse</settlement></placeName></affiliation></author><author><name sortKey="Preti, Milena" sort="Preti, Milena" uniqKey="Preti M" first="Milena" last="Preti">Milena Preti</name><affiliation wicri:level="3"><country xml:lang="fr">France</country><wicri:regionArea>Laboratoire de Biologie Moleculaire Eucaryote, UPS, Universite de Toulouse, Toulouse</wicri:regionArea><placeName><region type="region">Occitanie (région administrative)</region><region type="old region">Midi-Pyrénées</region><settlement type="city">Toulouse</settlement></placeName></affiliation><affiliation wicri:level="3"><country xml:lang="fr">France</country><wicri:regionArea>Centre National de la Recherche Scientifique, UMR 5099, Toulouse</wicri:regionArea><placeName><region type="region">Occitanie (région administrative)</region><region type="old region">Midi-Pyrénées</region><settlement type="city">Toulouse</settlement></placeName></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"><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="3"><country xml:lang="fr">France</country><wicri:regionArea>Laboratoire de Biologie Moleculaire Eucaryote, UPS, Universite de Toulouse, Toulouse</wicri:regionArea><placeName><region type="region">Occitanie (région administrative)</region><region type="old region">Midi-Pyrénées</region><settlement type="city">Toulouse</settlement></placeName></affiliation><affiliation wicri:level="3"><country xml:lang="fr">France</country><wicri:regionArea>Centre National de la Recherche Scientifique, UMR 5099, Toulouse</wicri:regionArea><placeName><region type="region">Occitanie (région administrative)</region><region type="old region">Midi-Pyrénées</region><settlement type="city">Toulouse</settlement></placeName></affiliation></author><author><name sortKey="Vlachos, Adrianna" sort="Vlachos, Adrianna" uniqKey="Vlachos A" first="Adrianna" last="Vlachos">Adrianna Vlachos</name><affiliation wicri:level="2"><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"><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. 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Sieff</name><affiliation wicri:level="2"><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"><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"><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"><country xml:lang="fr">Pologne</country><wicri:regionArea>Department of Pediatric Hematology/Oncology, Medical University of Warsaw, Warsaw</wicri:regionArea><wicri:noRegion>Warsaw</wicri:noRegion></affiliation></author><author><name sortKey="Matysiak, Michal" sort="Matysiak, Michal" uniqKey="Matysiak M" first="Michal" last="Matysiak">Michal Matysiak</name><affiliation wicri:level="1"><country xml:lang="fr">Pologne</country><wicri:regionArea>Department of Pediatric Hematology/Oncology, Medical University of Warsaw, Warsaw</wicri:regionArea><wicri:noRegion>Warsaw</wicri:noRegion></affiliation></author><author><name sortKey="Glader, Bertil" sort="Glader, Bertil" uniqKey="Glader B" first="Bertil" last="Glader">Bertil Glader</name><affiliation wicri:level="2"><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"><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"><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"><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"><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="3"><country xml:lang="fr">France</country><wicri:regionArea>Laboratoire de Biologie Moleculaire Eucaryote, UPS, Universite de Toulouse, Toulouse</wicri:regionArea><placeName><region type="region">Occitanie (région administrative)</region><region type="old region">Midi-Pyrénées</region><settlement type="city">Toulouse</settlement></placeName></affiliation><affiliation wicri:level="3"><country xml:lang="fr">France</country><wicri:regionArea>Centre National de la Recherche Scientifique, UMR 5099, Toulouse</wicri:regionArea><placeName><region type="region">Occitanie (région administrative)</region><region type="old region">Midi-Pyrénées</region><settlement type="city">Toulouse</settlement></placeName></affiliation><affiliation wicri:level="1"><country wicri:rule="url">France</country></affiliation><affiliation wicri:level="3"><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><placeName><region type="region">Occitanie (région administrative)</region><region type="old region">Midi-Pyrénées</region><settlement type="city">Toulouse</settlement></placeName></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"><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"><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><affiliations><list><country><li>France</li><li>Grèce</li><li>Pologne</li><li>États-Unis</li></country><region><li>Attique (région)</li><li>Californie</li><li>Massachusetts</li><li>Midi-Pyrénées</li><li>Occitanie (région administrative)</li><li>Ohio</li><li>État de New York</li></region><settlement><li>Athènes</li><li>Toulouse</li></settlement></list><tree><country name="États-Unis"><region name="Massachusetts"><name sortKey="Gazda, Hanna T" sort="Gazda, Hanna T" uniqKey="Gazda H" first="Hanna T." last="Gazda">Hanna T. Gazda</name></region><name sortKey="Atsidaftos, Eva" sort="Atsidaftos, Eva" uniqKey="Atsidaftos E" first="Eva" last="Atsidaftos">Eva Atsidaftos</name><name sortKey="Atsidaftos, Eva" sort="Atsidaftos, Eva" uniqKey="Atsidaftos E" first="Eva" last="Atsidaftos">Eva Atsidaftos</name><name sortKey="Beggs, Alan H" sort="Beggs, Alan H" uniqKey="Beggs A" first="Alan H." last="Beggs">Alan H. Beggs</name><name sortKey="Beggs, Alan H" sort="Beggs, Alan H" uniqKey="Beggs A" first="Alan H." last="Beggs">Alan H. Beggs</name><name sortKey="Buros, Christopher" sort="Buros, Christopher" uniqKey="Buros C" first="Christopher" last="Buros">Christopher Buros</name><name sortKey="Davies, Stella M" sort="Davies, Stella M" uniqKey="Davies S" first="Stella M." last="Davies">Stella M. Davies</name><name sortKey="Doherty, Leana" sort="Doherty, Leana" uniqKey="Doherty L" first="Leana" last="Doherty">Leana Doherty</name><name sortKey="Gazda, Hanna T" sort="Gazda, Hanna T" uniqKey="Gazda H" first="Hanna T." last="Gazda">Hanna T. Gazda</name><name sortKey="Gazda, Hanna T" sort="Gazda, Hanna T" uniqKey="Gazda H" first="Hanna T." last="Gazda">Hanna T. Gazda</name><name sortKey="Ghazvinian, Roxanne" sort="Ghazvinian, Roxanne" uniqKey="Ghazvinian R" first="Roxanne" last="Ghazvinian">Roxanne Ghazvinian</name><name sortKey="Glader, Bertil" sort="Glader, Bertil" uniqKey="Glader B" first="Bertil" last="Glader">Bertil Glader</name><name sortKey="Landowski, Michael" sort="Landowski, Michael" uniqKey="Landowski M" first="Michael" last="Landowski">Michael Landowski</name><name sortKey="Lipton, Jeffrey M" sort="Lipton, Jeffrey M" uniqKey="Lipton J" first="Jeffrey M." last="Lipton">Jeffrey M. Lipton</name><name sortKey="Lipton, Jeffrey M" sort="Lipton, Jeffrey M" uniqKey="Lipton J" first="Jeffrey M." last="Lipton">Jeffrey M. Lipton</name><name sortKey="Newburger, Peter E" sort="Newburger, Peter E" uniqKey="Newburger P" first="Peter E." last="Newburger">Peter E. Newburger</name><name sortKey="Sheen, Mee Rie" sort="Sheen, Mee Rie" uniqKey="Sheen M" first="Mee Rie" last="Sheen">Mee Rie Sheen</name><name sortKey="Sieff, Colin A" sort="Sieff, Colin A" uniqKey="Sieff C" first="Colin A." last="Sieff">Colin A. Sieff</name><name sortKey="Sieff, Colin A" sort="Sieff, Colin A" uniqKey="Sieff C" first="Colin A." last="Sieff">Colin A. Sieff</name><name sortKey="Vlachos, Adrianna" sort="Vlachos, Adrianna" uniqKey="Vlachos A" first="Adrianna" last="Vlachos">Adrianna Vlachos</name><name sortKey="Vlachos, Adrianna" sort="Vlachos, Adrianna" uniqKey="Vlachos A" first="Adrianna" last="Vlachos">Adrianna Vlachos</name></country><country name="France"><region name="Occitanie (région administrative)"><name sortKey="Gazda, Hanna T" sort="Gazda, Hanna T" uniqKey="Gazda H" first="Hanna T." last="Gazda">Hanna T. Gazda</name></region><name sortKey="Gleizes, Pierre Mmanuel" sort="Gleizes, Pierre Mmanuel" uniqKey="Gleizes P" first="Pierre-Emmanuel" last="Gleizes">Pierre-Emmanuel Gleizes</name><name sortKey="Gleizes, Pierre Mmanuel" sort="Gleizes, Pierre Mmanuel" uniqKey="Gleizes P" first="Pierre-Emmanuel" last="Gleizes">Pierre-Emmanuel Gleizes</name><name sortKey="Gleizes, Pierre Mmanuel" sort="Gleizes, Pierre Mmanuel" uniqKey="Gleizes P" first="Pierre-Emmanuel" last="Gleizes">Pierre-Emmanuel Gleizes</name><name sortKey="Gleizes, Pierre Mmanuel" sort="Gleizes, Pierre Mmanuel" uniqKey="Gleizes P" first="Pierre-Emmanuel" last="Gleizes">Pierre-Emmanuel Gleizes</name><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><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><name sortKey="Preti, Milena" sort="Preti, Milena" uniqKey="Preti M" first="Milena" last="Preti">Milena Preti</name><name sortKey="Preti, Milena" sort="Preti, Milena" uniqKey="Preti M" first="Milena" last="Preti">Milena Preti</name></country><country name="Grèce"><region name="Attique (région)"><name sortKey="Kattamis, Antonis" sort="Kattamis, Antonis" uniqKey="Kattamis A" first="Antonis" last="Kattamis">Antonis Kattamis</name></region></country><country name="Pologne"><noRegion><name sortKey="Niewiadomska, Edyta" sort="Niewiadomska, Edyta" uniqKey="Niewiadomska E" first="Edyta" last="Niewiadomska">Edyta Niewiadomska</name></noRegion><name sortKey="Matysiak, Michal" sort="Matysiak, Michal" uniqKey="Matysiak M" first="Michal" last="Matysiak">Michal Matysiak</name></country></tree></affiliations></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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