Gene Review:
RPS19 - ribosomal protein S19
Homo sapiens
Synonyms:
40S ribosomal protein S19, DBA, DBA1, S19
Gustavsson,
Klar,
Matsson,
Forestier,
Henter,
Rao,
Seip,
Skeppner,
Dahl,
Willig,
Draptchinskaia,
Dianzani,
Ball,
Niemeyer,
Ramenghi,
Orfali,
Gustavsson,
Garelli,
Brusco,
Tiemann,
Pérignon,
Bouchier,
Cicchiello,
Dahl,
Mohandas,
Tchernia,
Cmejlova,
Cerna,
Votava,
Pospisilova,
Cmejla,
Gazda,
Grabowska,
Merida-Long,
Latawiec,
Schneider,
Lipton,
Vlachos,
Atsidaftos,
Ball,
Orfali,
Niewiadomska,
Da Costa,
Tchernia,
Niemeyer,
Meerpohl,
Stahl,
Schratt,
Glader,
Backer,
Wong,
Nathan,
Beggs,
Sieff,
Da Costa,
Tchernia,
Gascard,
Lo,
Meerpohl,
Niemeyer,
Chasis,
Fixler,
Mohandas,
- Human RPS19, the gene mutated in Diamond-Blackfan anemia, encodes a ribosomal protein required for the maturation of 40S ribosomal subunits. Flygare, J., Aspesi, A., Bailey, J.C., Miyake, K., Caffrey, J.M., Karlsson, S., Ellis, S.R. Blood (2007)
- Specific Role for Yeast Homologs of the Diamond Blackfan Anemia-associated Rps19 Protein in Ribosome Synthesis. Léger-Silvestre, I., Caffrey, J.M., Dawaliby, R., Alvarez-Arias, D.A., Gas, N., Bertolone, S.J., Gleizes, P.E., Ellis, S.R. J. Biol. Chem. (2005)
- S19-mRNA expression in squamous cell carcinomas of the upper aerodigestive tract. Sengpiel, V., Rost, T., Görögh, T., Rathcke, I.O., Werner, J.A. Anticancer Res. (2004)
- Identification of a new in-frame deletion of six amino acids in ribosomal protein S19 in a patient with Diamond-Blackfan anemia. Cmejlova, J., Cerna, Z., Votava, T., Pospisilova, D., Cmejla, R. Blood Cells Mol. Dis. (2006)
- Ribosomal protein S19 expression during erythroid differentiation. Da Costa, L., Narla, G., Willig, T.N., Peters, L.L., Parra, M., Fixler, J., Tchernia, G., Mohandas, N. Blood (2003)
- The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia. Draptchinskaia, N., Gustavsson, P., Andersson, B., Pettersson, M., Willig, T.N., Dianzani, I., Ball, S., Tchernia, G., Klar, J., Matsson, H., Tentler, D., Mohandas, N., Carlsson, B., Dahl, N. Nat. Genet. (1999)
- Ribosomal protein S24 gene is mutated in Diamond-Blackfan anemia. 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., Sieff, C.A. Am. J. Hum. Genet. (2006)
- An RNA interference model of RPS19 deficiency in Diamond-Blackfan anemia recapitulates defective hematopoiesis and rescue by dexamethasone: identification of dexamethasone-responsive genes by microarray. Ebert, B.L., Lee, M.M., Pretz, J.L., Subramanian, A., Mak, R., Golub, T.R., Sieff, C.A. Blood (2005)
- Mutations in ribosomal protein S19 gene and diamond blackfan anemia: wide variations in phenotypic expression. Willig, T.N., Draptchinskaia, N., Dianzani, I., Ball, S., Niemeyer, C., Ramenghi, U., Orfali, K., Gustavsson, P., Garelli, E., Brusco, A., Tiemann, C., Pérignon, J.L., Bouchier, C., Cicchiello, L., Dahl, N., Mohandas, N., Tchernia, G. Blood (1999)
- Deficiency of ribosomal protein S19 in CD34+ cells generated by siRNA blocks erythroid development and mimics defects seen in Diamond-Blackfan anemia. Flygare, J., Kiefer, T., Miyake, K., Utsugisawa, T., Hamaguchi, I., Da Costa, L., Richter, J., Davey, E.J., Matsson, H., Dahl, N., Wiznerowicz, M., Trono, D., Karlsson, S. Blood (2005)
- Molecular basis of Diamond-Blackfan anemia: new findings from the Italian registry and a review of the literature. Campagnoli, M.F., Garelli, E., Quarello, P., Carando, A., Varotto, S., Nobili, B., Longoni, D., Pecile, V., Zecca, M., Dufour, C., Ramenghi, U., Dianzan, I. Haematologica (2004)
- Nucleolar localization of RPS19 protein in normal cells and mislocalization due to mutations in the nucleolar localization signals in 2 Diamond-Blackfan anemia patients: potential insights into pathophysiology. Da Costa, L., Tchernia, G., Gascard, P., Lo, A., Meerpohl, J., Niemeyer, C., Chasis, J.A., Fixler, J., Mohandas, N. Blood (2003)
- Fibroblast growth factor-2 interacts with free ribosomal protein S19. Soulet, F., Al Saati, T., Roga, S., Amalric, F., Bouche, G. Biochem. Biophys. Res. Commun. (2001)
- Interactions between RPS19, mutated in Diamond-Blackfan anemia, and the PIM-1 oncoprotein. Chiocchetti, A., Gibello, L., Carando, A., Aspesi, A., Secco, P., Garelli, E., Loreni, F., Angelini, M., Biava, A., Dahl, N., Dianzani, U., Ramenghi, U., Santoro, C., Dianzani, I. Haematologica (2005)
- Roles of the ribosomal protein S19 dimer and the C5a receptor in pathophysiological functions of phagocytic leukocytes. Yamamoto, T. Pathol. Int. (2007)
- Ten novel Diamond-Blackfan anemia mutations and three polymorphisms within the rps19 gene. Proust, A., Da Costa, L., Rince, P., Landois, A., Tamary, H., Zaizov, R., Tchernia, G., Delaunay, J. Hematol. J. (2003)
- Gene transfer improves erythroid development in ribosomal protein S19-deficient Diamond-Blackfan anemia. Hamaguchi, I., Ooka, A., Brun, A., Richter, J., Dahl, N., Karlsson, S. Blood (2002)
- Truncating ribosomal protein S19 mutations and variable clinical expression in Diamond-Blackfan anemia. Matsson, H., Klar, J., Draptchinskaia, N., Gustavsson, P., Carlsson, B., Bowers, D., de Bont, E., Dahl, N. Hum. Genet. (1999)
- Familial transient erythroblastopenia of childhood is associated with the chromosome 19q13.2 region but not caused by mutations in coding sequences of the ribosomal protein S19 (RPS19) gene. Gustavsson, P., Klar, J., Matsson, H., Forestier, E., Henter, J.I., Rao, S., Seip, M., Skeppner, G., Dahl, N. Br. J. Haematol. (2002)