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Article

A novel POLH mutation causes XP‑V disease and XP‑V tumor proneness may involve imbalance of numerous DNA polymerases

  • Authors:
    • Jia Guo
    • Guilan Zhou
    • Wenfeng Zhang
    • Yaling Song
    • Zhuan Bian
  • View Affiliations / Copyright

    Affiliations: State Key Laboratory Breeding Base of Basic Science of Stomatology and Key Laboratory of Oral Biomedicine Ministry of Education, School and Hospital of Stomatology, Wuhan University, Wuhan, Hubei 430079, P.R. China, Department of Endocrinology, Renmin Hospital of Wuhan University, Wuhan, Hebei 430060, P.R. China
  • Pages: 1583-1590
    |
    Published online on: October 7, 2013
       https://doi.org/10.3892/ol.2013.1604
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Abstract

Xeroderma pigmentosum variant (XP‑V) is a subtype of xeroderma pigmentosum (XP) disease with typical pigmentation and types of cancer in the oral maxillofacial and other sun‑exposed regions. Few factors of tumor proneness in XP‑V have been completely elucidated with the exception of the POLH [which encodes DNA polymerase η (pol η)] mutation. The aim of the present study was to identify the POLH mutation in an XP‑V patient and to explore the roles of specific additional polymerases in XP‑V tumor proneness. The POLH gene was sequenced in the patient and the expression of pol η, ι, κ, θ and ζ was tested in XP‑V tumor cells and cell lines, as well as in HeLa cells with POLH knockdown. The results revealed a novel, large homozygous deletion of POLH (del exon 5‑9) in the patient. Lower expression of pol κ, θ and ζ were observed in the XP‑V cells and similar changes were observed in HeLa cells with POLH knockdown. Consistent with XP‑V tumor cells, following UV irradiation, the expression of pol κ and θ presented was significantly increased in the XP‑V cell lines compared with that in the normal control cells. The unusual expression of other polymerases, besides pol η, identified in the present study indicated that these polymerases may also be key in XP‑V cells genetic instability, which accelerates tumor formation.
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Copy and paste a formatted citation
Spandidos Publications style
Guo J, Zhou G, Zhang W, Song Y and Bian Z: A novel POLH mutation causes XP‑V disease and XP‑V tumor proneness may involve imbalance of numerous DNA polymerases. Oncol Lett 6: 1583-1590, 2013.
APA
Guo, J., Zhou, G., Zhang, W., Song, Y., & Bian, Z. (2013). A novel POLH mutation causes XP‑V disease and XP‑V tumor proneness may involve imbalance of numerous DNA polymerases. Oncology Letters, 6, 1583-1590. https://doi.org/10.3892/ol.2013.1604
MLA
Guo, J., Zhou, G., Zhang, W., Song, Y., Bian, Z."A novel POLH mutation causes XP‑V disease and XP‑V tumor proneness may involve imbalance of numerous DNA polymerases". Oncology Letters 6.6 (2013): 1583-1590.
Chicago
Guo, J., Zhou, G., Zhang, W., Song, Y., Bian, Z."A novel POLH mutation causes XP‑V disease and XP‑V tumor proneness may involve imbalance of numerous DNA polymerases". Oncology Letters 6, no. 6 (2013): 1583-1590. https://doi.org/10.3892/ol.2013.1604
Copy and paste a formatted citation
x
Spandidos Publications style
Guo J, Zhou G, Zhang W, Song Y and Bian Z: A novel POLH mutation causes XP‑V disease and XP‑V tumor proneness may involve imbalance of numerous DNA polymerases. Oncol Lett 6: 1583-1590, 2013.
APA
Guo, J., Zhou, G., Zhang, W., Song, Y., & Bian, Z. (2013). A novel POLH mutation causes XP‑V disease and XP‑V tumor proneness may involve imbalance of numerous DNA polymerases. Oncology Letters, 6, 1583-1590. https://doi.org/10.3892/ol.2013.1604
MLA
Guo, J., Zhou, G., Zhang, W., Song, Y., Bian, Z."A novel POLH mutation causes XP‑V disease and XP‑V tumor proneness may involve imbalance of numerous DNA polymerases". Oncology Letters 6.6 (2013): 1583-1590.
Chicago
Guo, J., Zhou, G., Zhang, W., Song, Y., Bian, Z."A novel POLH mutation causes XP‑V disease and XP‑V tumor proneness may involve imbalance of numerous DNA polymerases". Oncology Letters 6, no. 6 (2013): 1583-1590. https://doi.org/10.3892/ol.2013.1604
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