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http://purl.uniprot.org/citations/9787135http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/9787135http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/9787135http://www.w3.org/2000/01/rdf-schema#comment"Previously we reported that a karyotypically silent t(4;14)(p16. 3;q32.3) translocation is present in about 25% of multiple myeloma (MM) tumors, and causes overexpression of FGFR3, which is 50 to 100 kb telomeric to the 4p16 breakpoints. Frequent FGFR3 kinase activating mutations in MM with t(4;14) translocations substantiate an oncogenic role for FGFR3. We now report that the 4p16 breakpoints occur telomeric to and within the 5' introns of a novel gene, MMSET (Multiple Myeloma SET domain). In normal tissues, MMSET has a complex pattern of expression with a short form (647 amino acids [aa]) containing an HMG box and hath region, and an alternatively spliced long form (1365 aa) containing the HMG box and hath region plus 4 PHD fingers and a SET domain. Although t(4;14) translocation results in IgH/MMSET hybrid transcripts, overexpression of MMSET also occurs from endogenous promoters on 4p16. Given the homology to HRX/MLL1/ALL1 at 11q23 that is dysregulated by translocations in acute leukemia, we hypothesize that dysregulation of MMSET contributes to neoplastic transformation in MM with t(4;14) translocation. This is the first example of an IgH translocation that simultaneously dysregulates two genes with oncogenic potential: FGFR3 on der(14) and MMSET on der(4)."xsd:string
http://purl.uniprot.org/citations/9787135http://purl.uniprot.org/core/author"Smith K.D."xsd:string
http://purl.uniprot.org/citations/9787135http://purl.uniprot.org/core/author"Smith K.D."xsd:string
http://purl.uniprot.org/citations/9787135http://purl.uniprot.org/core/author"Bergsagel P.L."xsd:string
http://purl.uniprot.org/citations/9787135http://purl.uniprot.org/core/author"Bergsagel P.L."xsd:string
http://purl.uniprot.org/citations/9787135http://purl.uniprot.org/core/author"Chesi M."xsd:string
http://purl.uniprot.org/citations/9787135http://purl.uniprot.org/core/author"Chesi M."xsd:string
http://purl.uniprot.org/citations/9787135http://purl.uniprot.org/core/author"Kuehl W.M."xsd:string
http://purl.uniprot.org/citations/9787135http://purl.uniprot.org/core/author"Kuehl W.M."xsd:string
http://purl.uniprot.org/citations/9787135http://purl.uniprot.org/core/author"Nardini E."xsd:string
http://purl.uniprot.org/citations/9787135http://purl.uniprot.org/core/author"Nardini E."xsd:string
http://purl.uniprot.org/citations/9787135http://purl.uniprot.org/core/author"Lim R.S.C."xsd:string
http://purl.uniprot.org/citations/9787135http://purl.uniprot.org/core/author"Lim R.S.C."xsd:string
http://purl.uniprot.org/citations/9787135http://purl.uniprot.org/core/date"1998"xsd:gYear
http://purl.uniprot.org/citations/9787135http://purl.uniprot.org/core/date"1998"xsd:gYear
http://purl.uniprot.org/citations/9787135http://purl.uniprot.org/core/name"Blood"xsd:string
http://purl.uniprot.org/citations/9787135http://purl.uniprot.org/core/name"Blood"xsd:string
http://purl.uniprot.org/citations/9787135http://purl.uniprot.org/core/pages"3025-3034"xsd:string
http://purl.uniprot.org/citations/9787135http://purl.uniprot.org/core/pages"3025-3034"xsd:string
http://purl.uniprot.org/citations/9787135http://purl.uniprot.org/core/title"The t(4;14) translocation in myeloma dysregulates both FGFR3 and a novel gene, MMSET, resulting in IgH/MMSET hybrid transcripts."xsd:string
http://purl.uniprot.org/citations/9787135http://purl.uniprot.org/core/title"The t(4;14) translocation in myeloma dysregulates both FGFR3 and a novel gene, MMSET, resulting in IgH/MMSET hybrid transcripts."xsd:string
http://purl.uniprot.org/citations/9787135http://purl.uniprot.org/core/volume"92"xsd:string
http://purl.uniprot.org/citations/9787135http://purl.uniprot.org/core/volume"92"xsd:string
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