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    Ribosomal protein genes RPS10 and RPS26 are commonly mutated in Diamond-Blackfan anemia

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    Authors
    Doherty, Leana
    Sheen, Mee Rie
    Vlachos, Adrianna
    Choesmel, Valerie
    O'Donohue, Marie-Francoise
    Clinton, Catherine
    Schneider, Hal E.
    Sieff, Colin A.
    Newburger, Peter E.
    Ball, Sarah E.
    Niewiadomska, Edyta
    Matysiak, Michal
    Glader, Bertil
    Arceci, Robert J.
    Farrar, Jason E.
    Atsidaftos, Eva
    Lipton, Jeffrrey M.
    Gleizes, Pierre-Emmanuel
    Gazda, Hanna T.
    Show allShow less
    UMass Chan Affiliations
    Department of Pediatrics
    Document Type
    Journal Article
    Publication Date
    2010-02-12
    Keywords
    Anemia, Diamond-Blackfan
    Base Sequence
    Humans
    Mutation
    RNA Processing, Post-Transcriptional
    Ribosomal Proteins
    Hematology
    Oncology
    Pediatrics
    
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    Link to Full Text
    http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2820177/pdf/main.pdf
    Abstract
    Diamond-Blackfan anemia (DBA), an inherited bone marrow failure syndrome characterized by anemia that usually presents before the first birthday or in early childhood, is associated with birth defects and an increased risk of cancer. Although anemia is the most prominent feature of DBA, the disease is also characterized by growth retardation and congenital malformations, in particular craniofacial, upper limb, heart, and urinary system defects that are present in approximately 30%-50% of patients. DBA has been associated with mutations in seven ribosomal protein (RP) genes, RPS19, RPS24, RPS17, RPL35A, RPL5, RPL11, and RPS7, in about 43% of patients. To continue our large-scale screen of RP genes in a DBA population, we sequenced 35 ribosomal protein genes, RPL15, RPL24, RPL29, RPL32, RPL34, RPL9, RPL37, RPS14, RPS23, RPL10A, RPS10, RPS12, RPS18, RPL30, RPS20, RPL12, RPL7A, RPS6, RPL27A, RPLP2, RPS25, RPS3, RPL41, RPL6, RPLP0, RPS26, RPL21, RPL36AL, RPS29, RPL4, RPLP1, RPL13, RPS15A, RPS2, and RPL38, in our DBA patient cohort of 117 probands. We identified three distinct mutations of RPS10 in five probands and nine distinct mutations of RPS26 in 12 probands. Pre-rRNA analysis in lymphoblastoid cells from patients bearing mutations in RPS10 and RPS26 showed elevated levels of 18S-E pre-rRNA. This accumulation is consistent with the phenotype observed in HeLa cells after knockdown of RPS10 or RPS26 expression with siRNAs, which indicates that mutations in the RPS10 and RPS26 genes in DBA patients affect the function of the proteins in rRNA processing. Elsevier Inc. All rights reserved.
    Source
    Am J Hum Genet. 2010 Feb 12;86(2):222-8. Epub 2010 Jan 28. Link to article on publisher's website
    DOI
    10.1016/j.ajhg.2009.12.015
    Permanent Link to this Item
    http://hdl.handle.net/20.500.14038/43326
    PubMed ID
    20116044
    Related Resources
    Link to article in PubMed
    ae974a485f413a2113503eed53cd6c53
    10.1016/j.ajhg.2009.12.015
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