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Ribosomal protein S24 gene is mutated in Diamond-Blackfan anemia

Item Type:Article
Title:Ribosomal protein S24 gene is mutated in Diamond-Blackfan anemia
Creators Name:Gazda, H.T. and Grabowska, A. and Merida-Long, L.B. and Latawiec, E. and Schneider, H.E. and Lipton, J.M. and Vlachos, A. and Atsidaftos, E. and Ball, S.E. and Orfali, K.A. and Niewiadomska, E. and Da Costa, L. and Tchernia, G. and Niemeyer, C. and Meerpohl, J.J. and Stahl, J. and Schratt, G. and Glader, B. and Backer, K. and Wong, C. and Nathan, D.G. and Beggs, A.H. and Sieff, C.A.
Abstract:Diamond-Blackfan anemia (DBA) is a rare congenital red-cell aplasia characterized by anemia, bone-marrow erythroblastopenia, and congenital anomalies and is associated with heterozygous mutations in the ribosomal protein (RP) S19 gene (RPS19) in approximately 25% of probands. We report identification of de novo nonsense and splice-site mutations in another RP, RPS24 (encoded by RPS24 [10q22-q23]) in approximately 2% of RPS19 mutation-negative probands. This finding strongly suggests that DBA is a disorder of ribosome synthesis and that mutations in other RP or associated genes that lead to disrupted ribosomal biogenesis and/or function may also cause DBA.
Keywords:Alternative Splicing, Base Sequence, Bone Marrow Cells, Case-Control Studies, Cultured Cells, Diamond-Blackfan Anemia, Gene Expression Regulation, Genetic Linkage, Molecular Sequence Data, Mutation, Reference Values, Ribosomal Proteins, Ribosomes
Source:American Journal of Human Genetics
ISSN:0002-9297
Publisher:University of Chicago Press (U.S.A.)
Volume:79
Number:6
Page Range:1110-1118
Date:December 2006
Official Publication:https://doi.org/10.1086/510020
PubMed:View item in PubMed

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