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    UBE2QL1 is disrupted by a constitutional translocation associated with renal tumor predisposition and is a novel candidate renal tumor suppressor gene.

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    Authors
    Wake, N
    Ricketts, C
    Morris, M
    Prigmore, E
    Gribble, S
    Skytte, A-B
    Brown, Michael D
    Clarke, Noel W
    Banks, R
    Hodgson, S
    Turnell, A
    Maher, E
    Woodward, E
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    Issue Date
    2013-12
    
    Metadata
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    Abstract
    Investigation of rare familial forms of renal cell carcinoma (RCC) has led to the identification of genes such as VHL and MET that are also implicated in the pathogenesis of sporadic RCC. In order to identify a novel candidate renal tumor suppressor gene, we characterized the breakpoints of a constitutional balanced translocation, t(5;19)(p15.3;q12), associated with familial RCC and found that a previously uncharacterized gene UBE2QL1 was disrupted by the chromosome 5 breakpoint. UBE2QL1 mRNA expression was downregulated in 78.6% of sporadic RCC and, although no intragenic mutations were detected, gene deletions and promoter region hypermethylation were detected in 17.3% and 20.3%, respectively, of sporadic RCC. Reexpression of UBE2QL1 in a deficient RCC cell line suppressed anchorage-independent growth. UBE2QL1 shows homology to the E2 class of ubiquitin conjugating enzymes and we found that (1) UBE2QL1 possesses an active-site cysteine (C88) that is monoubiquitinated in vivo, and (2) UBE2QL1 interacts with FBXW7 (an F box protein providing substrate recognition to the SCF E3 ubiquitin ligase) and facilitates the degradation of the known FBXW7 targets, CCNE1 and mTOR. These findings suggest UBE2QL1 as a novel candidate renal tumor suppressor gene.
    Citation
    UBE2QL1 is disrupted by a constitutional translocation associated with renal tumor predisposition and is a novel candidate renal tumor suppressor gene. 2013, 34 (12):1650-61 Hum Mutat
    Journal
    Human Mutation
    URI
    http://hdl.handle.net/10541/308816
    DOI
    10.1002/humu.22433
    PubMed ID
    24000165
    Type
    Article
    Language
    en
    ISSN
    1098-1004
    ae974a485f413a2113503eed53cd6c53
    10.1002/humu.22433
    Scopus Count
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