RED CELLS Impaired ribosome biogenesis in Diamond-Blackfan anemia
نویسندگان
چکیده
1Laboratoire de Biologie Moléculaire des Eucaryotes (Unite Mixte de Recherche [UMR] 5099), Institut d’Exploration Fonctionnelle des Génomes (Institut Fédératif de Recherche [IFR] 109), Centre National de la Recherche Scientifique (CNRS) and Université Paul Sabatier, Toulouse, France; 2Institut Européen de Chimie et Biologie, Institut National de la Santé et de la Recherche Médicale (INSERM) U386, Pessac, France; 3INSERM U790, Université Paris XI, Institut Gustave Roussy (IGR), Villejuif, France; 4Service d’oncologie-pédiatrie, Hôpital Saint-Louis, Paris, France; 5Centre de référence des maladies génétiques de l’érythrocyte et de l’érythropoı̈èse, Hôpital Bicêtre, Le Kremlin-Bicêtre, France
منابع مشابه
Ribosomopathies: human disorders of ribosome dysfunction.
Ribosomopathies compose a collection of disorders in which genetic abnormalities cause impaired ribosome biogenesis and function, resulting in specific clinical phenotypes. Congenital mutations in RPS19 and other genes encoding ribosomal proteins cause Diamond-Blackfan anemia, a disorder characterized by hypoplastic, macrocytic anemia. Mutations in other genes required for normal ribosome bioge...
متن کاملImpaired ribosome biogenesis in Diamond-Blackfan anemia.
The gene encoding the ribosomal protein S19 (RPS19) is frequently mutated in Diamond-Blackfan anemia (DBA), a congenital erythroblastopenia. The consequence of these mutations on the onset of the disease remains obscure. Here, we show that RPS19 plays an essential role in biogenesis of the 40S small ribosomal subunit in human cells. Knockdown of RPS19 expression by siRNAs impairs 18S rRNA synth...
متن کاملImpaired Ribosome Biogenesis and P53 Activation in Haematological Disease: Novel Therapeutic Strategies
Hereditary forms of bone marrow failure and aplastic anaemia (AA) manifest in rare blood syndromes (Dyskeratosis Congenita, Diamond-Blackfan Anaemia and Shwachman-Diamond Syndrome) in which genetic abnormalities directly impair ribosome biogenesis. These conditions are all associated with varying degrees of predisposition to haematological malignancy. Various studies of ribosome proteins have r...
متن کاملDiamond Blackfan Anemia at the Crossroad between Ribosome Biogenesis and Heme Metabolism
Diamond-Blackfan anemia (DBA) is a rare, pure red-cell aplasia that presents during infancy. Approximately 40% of cases are associated with other congenital defects, particularly malformations of the upper limb or craniofacial region. Mutations in the gene coding for the ribosomal protein RPS19 have been identified in 25% of patients with DBA, with resulting impairment of 18S rRNA processing an...
متن کاملThe role of human ribosomal proteins in the maturation of rRNA and ribosome production.
Production of ribosomes is a fundamental process that occurs in all dividing cells. It is a complex process consisting of the coordinated synthesis and assembly of four ribosomal RNAs (rRNA) with about 80 ribosomal proteins (r-proteins) involving more than 150 nonribosomal proteins and other factors. Diamond Blackfan anemia (DBA) is an inherited red cell aplasia caused by mutations in one of se...
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تاریخ انتشار 2007