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    Two functional assays employed to detect an unusual mutation in the oligomerisation domain of p53 in a Li-Fraumeni like family.

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    Authors
    Lomax, M
    Barnes, D
    Gilchrist, R
    Picksley, S
    Varley, Jennifer
    Camplejohn, R
    Affiliation
    Richard Dimbleby Department of Cancer Research, UMDS, St. Thomas' Hospital, London, UK.
    Issue Date
    1997-04-17
    
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    Abstract
    Previous investigations of a Li - Fraumeni like family (Barnes et al., 1992) demonstrated that both the proband and her mother had elevated p53 protein levels in both tumour tissue and normal tissue at sites distant from the tumour, although no mutation was found in the p53 gene. In the present study two recently described functional assays for p53, an apoptotic assay and the functional assay for the separation of alleles in yeast (FASAY), have been employed to study the functional activity of p53 from this patient. The results of the apoptotic assay demonstrated that this patient had a p53 functional defect and the FASAY result suggested that this defect was in fact a germline mutation of the p53 gene. A point mutation of codon 337, which results in an amino acid substitution of a cysteine for an arginine, was demonstrated initially in cDNA and was confirmed by sequencing of genomic DNA. This is an unusual mutation as it is in the oligomerisation domain of p53, in contrast to the majority of p53 mutations which are in the core DNA binding domain. This mutation results in a protein which still retains partial transactivational activity in the FASAY. The mutation of codon 337 is only the second reported case of a germline missense mutation occurring in the oligomerisation domain of p53.
    Citation
    Two functional assays employed to detect an unusual mutation in the oligomerisation domain of p53 in a Li-Fraumeni like family. 1997, 14 (15):1869-74 Oncogene
    Journal
    Oncogene
    URI
    http://hdl.handle.net/10541/121305
    DOI
    10.1038/sj.onc.1201133
    PubMed ID
    9150393
    Type
    Article
    Language
    en
    ISSN
    0950-9232
    ae974a485f413a2113503eed53cd6c53
    10.1038/sj.onc.1201133
    Scopus Count
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    All Paterson Institute for Cancer Research

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