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The human XPC DNA repair gene: arrangement, splice site information content and influence of a single nucleotide polymorphism in a splice acceptor site on alternative splicing and function

  1. Author:
    Khan, S. G.
    Muniz-Medina, V.
    Shahlavi, T.
    Baker, C. C.
    Inui, H.
    Ueda, T.
    Emmert, S.
    Schneider, T. D.
    Kraemer, K. H.

  2. Author Address

    NCI, Basic Res Lab, Bldg Room 3E24, Bethesda, MD 20892 USA NCI, Basic Res Lab, Bethesda, MD 20892 USA NCI, Lab Expt & Computat Biol, Frederick, MD 21701 USA Kraemer KH NCI, Basic Res Lab, Bldg Room 3E24, Bethesda, MD 20892 USA
    1. Year: 2002
  2. Journal: Nucleic Acids Research
    1. 30
    2. 16
    3. Pages: 3624-3631
  4. Type of Article: Article
  1. Abstract:

    XPC DNA repair gene mutations result in the cancer-prone disorder xeroderma pigmentosum. The XPC gene spans 33 kb and has 16 exons (82-882 bp) and 15 introns (0.08-5.4 kb). A 1.6 kb intron was found within exon 5. Sensitive real- time quantitative reverse transcription-polymerase chain reaction methods were developed to measure full-length XPC mRNA (the predominant form) and isoforms that skipped exons 4, 7 or 12. Exon 7 was skipped in similar to0.07% of XPC mRNAs, consistent with the high information content of the exon 7 splice acceptor and donor sites (12.3 and 10.4 bits). In contrast, exon 4 was skipped in similar to0.7% of the XPC mRNAs, consistent with the low information content of the exon 4 splice acceptor (-0.1 bits). A new common C/A single nucleotide polymorphism in the XPC intron 11 splice acceptor site (58% C in 97 normals) decreased its information content from 7.5 to 5.1 bits. Fibroblasts homozygous for A/A had significantly higher levels (similar to2.6-fold) of the XPC mRNA isoform that skipped exon 12 than those homozygous for C/C. This abnormally spliced XPC mRNA isoform has diminished DNA repair function and may contribute to cancer susceptibility.

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