loading...| Preferred Name |
Dimerization of FGFR3 t(4;14) translocation mutants |
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| Definitions |
has a Stoichiometric coefficient of 2 ~15% of multiple myelomas contain translocations that put the FGFR3 gene under the control of the strong IGH locus (Chesi, 1997; Avet-Loiseau, 1998). This translocation results in the overexpresssion of FGFR3 (Chesi, 1997), which leads to aberrant signaling in either a ligand-dependent (Otsuki, 1999; Qing, 2009) or independent fashion (Chesi, 2001). Overexpression of WT FGFR3 results in a low level of FGF-independent MAPK activation, suggesting that overexpression can lead to ligand-independent dimerization; however this response is more pronounced after ligand-stimulation (Chesi, 2001; Qing, 2009). ~5% of multiple myelomas with FGFR3 translocations also contain coding sequence activating mutations (Chesi, 1997; Avet-Loiseau, 1998). These mutations (R248C, Y373C, K650E and K650M) mimic activating mutations seen in bone development disoders, are believed to arise later in tumor progression than the translocation event and contribute to ligand-independent signaling (Chesi, 1997; Chesi, 2001; Li, 2001; Ronchetti, 2001). Edited: Rothfels, K, 2012-05-16 Authored: Rothfels, K, 2012-02-09 Reviewed: Ezzat, S, 2012-05-15 |
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http://purl.obolibrary.org/obo/HINO_0008104 |
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| comment |
has a Stoichiometric coefficient of 2 ~15% of multiple myelomas contain translocations that put the FGFR3 gene under the control of the strong IGH locus (Chesi, 1997; Avet-Loiseau, 1998). This translocation results in the overexpresssion of FGFR3 (Chesi, 1997), which leads to aberrant signaling in either a ligand-dependent (Otsuki, 1999; Qing, 2009) or independent fashion (Chesi, 2001). Overexpression of WT FGFR3 results in a low level of FGF-independent MAPK activation, suggesting that overexpression can lead to ligand-independent dimerization; however this response is more pronounced after ligand-stimulation (Chesi, 2001; Qing, 2009). ~5% of multiple myelomas with FGFR3 translocations also contain coding sequence activating mutations (Chesi, 1997; Avet-Loiseau, 1998). These mutations (R248C, Y373C, K650E and K650M) mimic activating mutations seen in bone development disoders, are believed to arise later in tumor progression than the translocation event and contribute to ligand-independent signaling (Chesi, 1997; Chesi, 2001; Li, 2001; Ronchetti, 2001). Edited: Rothfels, K, 2012-05-16 Authored: Rothfels, K, 2012-02-09 Reviewed: Ezzat, S, 2012-05-15 |
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| definition source |
Pubmed11157491 Pubmed9865713 Pubmed10568829 Pubmed19381019 Reactome, http://www.reactome.org Pubmed11290605 Pubmed11429702 Pubmed9207791 |
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Dimerization of FGFR3 t(4;14) translocation mutants |
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| prefixIRI |
HINO:0008104 |
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| prefLabel |
Dimerization of FGFR3 t(4;14) translocation mutants |
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| seeAlso |
ReactomeREACT_120754 Reactome Database ID Release 432038386 |
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