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    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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    Authors
    Gazda, Hanna T.
    Preti, Milena
    Sheen, Mee Rie
    O'Donohue, Marie-Francoise
    Vlachos, Adrianna
    Davies, Stella M.
    Kattamis, Antonis
    Doherty, Leana
    Landowski, Michael
    Buros, Christopher
    Ghazvinian, Roxanne
    Sieff, Colin A.
    Newburger, Peter E.
    Niewiadomska, Edyta
    Matysiak, Michal
    Glader, Bertil
    Atsidaftos, Eva
    Lipton, Jeffrrey M.
    Gleizes, Pierre-Emmanuel
    Beggs, Alan H.
    Show allShow less
    UMass Chan Affiliations
    Department of Pediatrics
    Document Type
    Journal Article
    Publication Date
    2012-07-01
    Keywords
    Anemia, Diamond-Blackfan
    Ribosomal Proteins
    Frameshift Mutation
    Hematology
    Hemic and Lymphatic Diseases
    Pediatrics
    
    Metadata
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    Link to Full Text
    http://dx.doi.org/10.1002/humu.22081
    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 approximately 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.
    Source
    Hum Mutat. 2012 Jul;33(7):1037-44. doi: 10.1002/humu.22081. Epub 2012 Apr 16. Link to article on publisher's site
    DOI
    10.1002/humu.22081
    Permanent Link to this Item
    http://hdl.handle.net/20.500.14038/43533
    PubMed ID
    22431104
    Related Resources
    Link to Article in PubMed
    ae974a485f413a2113503eed53cd6c53
    10.1002/humu.22081
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