Ribosomal protein S24 gene is mutated in Diamond-Blackfan anemia

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Item Type:	Article
Title:	Ribosomal protein S24 gene is mutated in Diamond-Blackfan anemia
Creators Name:	Gazda, H.T., Grabowska, A., Merida-Long, L.B., Latawiec, E., Schneider, H.E., Lipton, J.M., Vlachos, A., Atsidaftos, E., Ball, S.E., Orfali, K.A., Niewiadomska, E., Da Costa, L., Tchernia, G., Niemeyer, C., Meerpohl, J.J., Stahl, J., Schratt, G., Glader, B., Backer, K., Wong, C., Nathan, D.G., 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
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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