Ribosomes, the organelles that catalyzeprotein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S19E family of ribosomal proteins. It is located in the cytoplasm. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome.[2]
Clinical significance
Mutations in this gene cause Diamond-Blackfan anemia (DBA), a constitutional erythroblastopenia characterized by absent or decreased erythroid precursors, in a subset of patients. This suggests a possible extra-ribosomal function for this gene in erythropoietic differentiation and proliferation, in addition to its ribosomal function. Higher expression levels of this gene in some primary colon carcinomas compared to matched normal colon tissues has been observed.[2]
↑Kenmochi N, Kawaguchi T, Rozen S, Davis E, Goodman N, Hudson TJ, Tanaka T, Page DC (August 1998). "A map of 75 human ribosomal protein genes". Genome Res. 8 (5): 509–23. doi:10.1101/gr.8.5.509. PMID9582194.
↑Soulet F, Al Saati T, Roga S, Amalric F, Bouche G (November 2001). "Fibroblast growth factor-2 interacts with free ribosomal protein S19". Biochem. Biophys. Res. Commun. 289 (2): 591–6. doi:10.1006/bbrc.2001.5960. PMID11716516.
↑Molecular Basis of Cell and Developmental Biology: Ana-Maria Filip, Jörg Klug, Sevil Cayli, Suada Fröhlich, Tamara Henke, Philipp Lacher, Regina Eickhoff, Patrick Bulau, Monika Linder, Christine Carlsson-Skwirut, Lin Leng, Richard Bucala, Sandra Kraemer, Jürgen Bernhagen, and Andreas Meinhardt. Ribosomal Protein S19 Interacts with Macrophage Migration Inhibitory Factor and Attenuates Its Pro-inflammatory Function J. Biol. Chem. 2009 284: 7977-7985. First Published on January 20, 2009, doi:10.1074/jbc.M808620200
Further reading
Wool IG, Chan YL, Glück A (1996). "Structure and evolution of mammalian ribosomal proteins". Biochem. Cell Biol. 73 (11–12): 933–47. doi:10.1139/o95-101. PMID8722009.
Morimoto K, Lin S, Sakamoto K (2007). "The functions of RPS19 and their relationship to Diamond-Blackfan anemia: a review". Mol. Genet. Metab. 90 (4): 358–62. doi:10.1016/j.ymgme.2006.11.004. PMID17178250.
Yamamoto T (2007). "Roles of the ribosomal protein S19 dimer and the C5a receptor in pathophysiological functions of phagocytic leukocytes". Pathol. Int. 57 (1): 1–11. doi:10.1111/j.1440-1827.2007.02049.x. PMID17199736.
Kondoh N, Schweinfest CW, Henderson KW, Papas TS (1992). "Differential expression of S19 ribosomal protein, laminin-binding protein, and human lymphocyte antigen class I messenger RNAs associated with colon carcinoma progression and differentiation". Cancer Res. 52 (4): 791–6. PMID1339304.
Vladimirov SN, Ivanov AV, Karpova GG, Musolyamov AK, Egorov TA, Thiede B, Wittmann-Liebold B, Otto A (1996). "Characterization of the human small-ribosomal-subunit proteins by N-terminal and internal sequencing, and mass spectrometry". Eur. J. Biochem. 239 (1): 144–9. doi:10.1111/j.1432-1033.1996.0144u.x. PMID8706699.
Draptchinskaia N, Gustavsson P, Andersson B, Pettersson M, Willig TN, Dianzani I, Ball S, Tchernia G, Klar J, Matsson H, Tentler D, Mohandas N, Carlsson B, Dahl N (1999). "The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia". Nat. Genet. 21 (2): 169–75. doi:10.1038/5951. PMID9988267.
Willig TN, Draptchinskaia N, Dianzani I, Ball S, Niemeyer C, Ramenghi U, Orfali K, Gustavsson P, Garelli E, Brusco A, Tiemann C, Pérignon JL, Bouchier C, Cicchiello L, Dahl N, Mohandas N, Tchernia G (2000). "Mutations in ribosomal protein S19 gene and diamond blackfan anemia: wide variations in phenotypic expression". Blood. 94 (12): 4294–306. PMID10590074.
Matsson H, Klar J, Draptchinskaia N, Gustavsson P, Carlsson B, Bowers D, de Bont E, Dahl N (2000). "Truncating ribosomal protein S19 mutations and variable clinical expression in Diamond-Blackfan anemia". Hum. Genet. 105 (5): 496–500. doi:10.1007/s004390051136. PMID10598818.
Ramenghi U, Campagnoli MF, Garelli E, Carando A, Brusco A, Bagnara GP, Strippoli P, Izzi GC, Brandalise S, Riccardi R, Dianzani I (2001). "Diamond-Blackfan anemia: report of seven further mutations in the RPS19 gene and evidence of mutation heterogeneity in the Italian population". Blood Cells Mol. Dis. 26 (5): 417–22. doi:10.1006/bcmd.2000.0324. PMID11112378.
Nishimura T, Horino K, Nishiura H, Shibuya Y, Hiraoka T, Tanase S, Yamamoto T (2001). "Apoptotic cells of an epithelial cell line, AsPC-1, release monocyte chemotactic S19 ribosomal protein dimer". J. Biochem. 129 (3): 445–54. doi:10.1093/oxfordjournals.jbchem.a002876. PMID11226885.
Soulet F, Al Saati T, Roga S, Amalric F, Bouche G (2002). "Fibroblast growth factor-2 interacts with free ribosomal protein S19". Biochem. Biophys. Res. Commun. 289 (2): 591–6. doi:10.1006/bbrc.2001.5960. PMID11716516.
Li B, Sun M, He B, Yu J, Zhang YD, Zhang YL (2004). "Identification of differentially expressed genes in human uterine leiomyomas using differential display". Cell Res. 12 (1): 39–45. doi:10.1038/sj.cr.7290108. PMID11942409.
Da Costa L, Tchernia G, Gascard P, Lo A, Meerpohl J, Niemeyer C, Chasis JA, Fixler J, Mohandas N (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". Blood. 101 (12): 5039–45. doi:10.1182/blood-2002-12-3878. PMID12586610.
Proust A, Da Costa L, Rince P, Landois A, Tamary H, Zaizov R, Tchernia G, Delaunay J (2003). "Ten novel Diamond-Blackfan anemia mutations and three polymorphisms within the rps19 gene". Hematol. J. 4 (2): 132–6. doi:10.1038/sj.thj.6200230. PMID12750732.
