Table of Contents Author Guidelines Submit a Manuscript
BioMed Research International
Volume 2014 (2014), Article ID 256245, 8 pages
http://dx.doi.org/10.1155/2014/256245
Research Article

A Founder Large Deletion Mutation in Xeroderma Pigmentosum-Variant Form in Tunisia: Implication for Molecular Diagnosis and Therapy

1Laboratoire de Génomique Biomédicale et Oncogénétique (LR 11 IPT 05), Institut Pasteur de Tunis, Université de Tunis El Manar, El Manar I, BP 74, 13 Place Pasteur 1002 Tunis Belvédère, 2092 Tunis, Tunisia
2Département de Dermatologie, Hôpital Charles Nicolle de Tunis, 1006 Tunis, Tunisia
3Département d’Anatomie-Pathologique Humaine et Expérimentale, Institut Pasteur de Tunis, 1002 Tunis, Tunisia
4Département d’Oncologie Médicale, Hôpital Abderrahman Mami, 2080 Ariana, Tunisia
5Département d’Oncologie Médicale, Hôpital La Rabta de Tunis, 1007 Tunis, Tunisia

Received 22 February 2014; Accepted 23 March 2014; Published 4 May 2014

Academic Editor: Margit Burmeister

Copyright © 2014 Mariem Ben Rekaya et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Linked References

  1. K. H. Kraemer, N. J. Patronas, R. Schiffmann, B. P. Brooks, D. Tamura, and J. J. DiGiovanna, “Xeroderma pigmentosum, trichothiodystrophy and Cockayne syndrome: a complex genotype-phenotype relationship,” Neuroscience, vol. 145, no. 4, pp. 1388–1396, 2007. View at Publisher · View at Google Scholar · View at Scopus
  2. A. Gratchev, P. Strein, J. Utikal, and G. Sergij, “Molecular genetics of Xeroderma pigmentosum variant,” Experimental Dermatology, vol. 12, no. 5, pp. 529–536, 2003. View at Publisher · View at Google Scholar · View at Scopus
  3. H. Inui, K. S. Oh, C. Nadem et al., “Xeroderma pigmentosum-variant patients from America, Europe, and Asia,” Journal of Investigative Dermatology, vol. 128, no. 8, pp. 2055–2068, 2008. View at Publisher · View at Google Scholar · View at Scopus
  4. M. B. Rekaya, O. Messaoud, A. Mebazaa et al., “A novel POLH gene mutation in a Xeroderma pigmentosum-V Tunisian patient: phenotype-genotype correlation,” Journal of Genetics, vol. 90, no. 3, pp. 483–487, 2011. View at Google Scholar · View at Scopus
  5. S. Moriwaki and K. H. Kraemer, “Xeroderma pigmentosum—bridging a gap between clinic and laboratory,” Photodermatology Photoimmunology and Photomedicine, vol. 17, no. 2, pp. 47–54, 2001. View at Publisher · View at Google Scholar · View at Scopus
  6. P. Kannouche and A. Stary, “Xeroderma pigmentosum variant and error-prone DNA polymerases,” Biochimie, vol. 85, no. 11, pp. 1123–1132, 2003. View at Publisher · View at Google Scholar · View at Scopus
  7. A. Stary, P. Kannouche, A. R. Lehmann, and A. Sarasin, “Role of DNA polymerase η in the UV mutation spectrum in human cells,” The Journal of Biological Chemistry, vol. 278, no. 21, pp. 18767–18775, 2003. View at Publisher · View at Google Scholar · View at Scopus
  8. C. Masutani, M. Araki, A. Yamada et al., “Xeroderma pigmentosum variant (XP-V) correcting protein from HeLa cells has a thymine dimer bypass DNA polymerase activity,” EMBO Journal, vol. 18, no. 12, pp. 3491–3501, 1999. View at Publisher · View at Google Scholar · View at Scopus
  9. C. Masutani, R. Kusumoto, A. Yamada et al., “The XPV (Xeroderma pigmentosum variant) gene encodes human DNA polymerase η,” Nature, vol. 399, no. 6737, pp. 700–704, 1999. View at Publisher · View at Google Scholar · View at Scopus
  10. C. A. Dumstorf, A. B. Clark, Q. Lin et al., “Participation of mouse DNA polymerase ι in strand-biased mutagenic bypass of UV photoproducts and suppression of skin cancer,” Proceedings of the National Academy of Sciences of the United States of America, vol. 103, no. 48, pp. 18083–18088, 2006. View at Publisher · View at Google Scholar · View at Scopus
  11. Q. Gueranger, A. Stary, S. Aoufouchi et al., “Role of DNA polymerases η, ι and ζ in UV resistance and UV-induced mutagenesis in a human cell line,” DNA Repair, vol. 7, no. 9, pp. 1551–1562, 2008. View at Publisher · View at Google Scholar · View at Scopus
  12. S. Cruet-Hennequart, K. Gallagher, A. M. Sokòl, S. Villalan, A. M. Prendergast, and M. P. Carty, “DNA polymerase η, a key protein in translesion synthesis in human cells,” Sub-Cellular Biochemistry, vol. 50, pp. 189–209, 2010. View at Google Scholar · View at Scopus
  13. Y. Zhao, C. Biertumpfel, M. T. Gregory, Y. J. Hua, F. Hanaoka, and W. Yang, “Structural basis of human DNA polymerase η-mediated chemoresistance to cisplatin,” Proceedings of the National Academy of Sciences of the United States of America, vol. 109, no. 19, pp. 7269–7274, 2012. View at Publisher · View at Google Scholar
  14. T. Itoh and S. Linn, “XP43TO, previously classified as Xeroderma pigmentosum group E, should be reclassified as Xeroderma pigmentosum variant,” Journal of Investigative Dermatology, vol. 117, no. 6, pp. 1672–1674, 2001. View at Publisher · View at Google Scholar · View at Scopus
  15. R. E. Johnson, C. M. Kondratick, S. Prakash, and L. Prakash, “hRAD30 mutations in the variant form of Xeroderma pigmentosum,” Science, vol. 285, no. 5425, pp. 263–265, 1999. View at Publisher · View at Google Scholar · View at Scopus
  16. B. C. Broughton, A. Cordonnier, W. J. Kleijer et al., “Molecular analysis of mutations in DNA polymerase η in Xeroderma pigmentosum-variant patients,” Proceedings of the National Academy of Sciences of the United States of America, vol. 99, no. 2, pp. 815–820, 2002. View at Publisher · View at Google Scholar · View at Scopus
  17. M. Tanioka, T. Masaki, R. Ono et al., “Molecular analysis of DNA polymerase eta gene in Japanese patients diagnosed as Xeroderma pigmentosum variant type,” Journal of Investigative Dermatology, vol. 127, no. 7, pp. 1745–1751, 2007. View at Publisher · View at Google Scholar · View at Scopus
  18. T. Masaki, R. Ono, M. Tanioka et al., “Four types of possible founder mutations are responsible for 87% of Japanese patients with Xeroderma pigmentosum variant type,” Journal of Dermatological Science, vol. 52, no. 2, pp. 144–148, 2008. View at Publisher · View at Google Scholar · View at Scopus
  19. X. Liu, X. Zhang, J. Qiao, and H. Fang, “Identification of a novel nonsense mutation in POLH in a Chinese pedigree with Xeroderma pigmentosum, variant type,” International Journal of Medical Sciences, vol. 10, no. 6, pp. 766–770, 2013. View at Publisher · View at Google Scholar
  20. O. Messaoud, “Novel mutation in POLH gene responsible of severe phenotype of XP-V,” Clinical Dermatology, vol. 1, pp. 125–129, 2013. View at Google Scholar
  21. R. Ono, T. Masaki, S. Takeuchi et al., “Three school-age cases of Xeroderma pigmentosum variant type,” Photodermatology Photoimmunology and Photomedicine, vol. 29, no. 3, pp. 132–139, 2013. View at Publisher · View at Google Scholar
  22. K. Opletalova, A. Bourillon, W. Yang et al., “Correlation of phenotype/genotype in a cohort of 23 Xeroderma pigmentosum-variant patients reveals 12 new disease-causing POLH mutations,” Human Mutation, vol. 35, no. 1, pp. 117–128, 2014. View at Publisher · View at Google Scholar
  23. O. Ortega-Recalde, J. I. Vergara, D. J. Fonseca et al., “Whole-exome sequencing enables rapid determination of Xeroderma pigmentosum molecular etiology,” PLoS ONE, vol. 8, no. 6, Article ID e64692, 2013. View at Publisher · View at Google Scholar
  24. S. A. Miller, D. D. Dykes, and H. F. Polesky, “A simple salting out procedure for extracting DNA from human nucleated cells,” Nucleic Acids Research, vol. 16, no. 3, article 1215, 1988. View at Publisher · View at Google Scholar · View at Scopus
  25. C. Bouchlaka, S. Abdelhak, A. Amouri et al., “Fanconi anemia in Tunisia: high prevalence of group A and identification of new FANCA mutations,” Journal of Human Genetics, vol. 48, pp. 352–361, 2003. View at Publisher · View at Google Scholar
  26. N. H. Nicolay, R. Carter, S. B. Hatch et al., “Homologous recombination mediates S-phase-dependent radioresistance in cells deficient in DNA polymerase eta,” Carcinogenesis, vol. 33, no. 11, pp. 2026–2034, 2012. View at Publisher · View at Google Scholar
  27. Y. W. Chen, J. E. Cleaver, F. Hanaoka, C. F. Chang, and K. M. Chou, “A novel role of DNA polymerase η in modulating cellular sensitivity to chemotherapeutic agents,” Molecular Cancer Research, vol. 4, no. 4, pp. 257–265, 2006. View at Publisher · View at Google Scholar · View at Scopus
  28. D. Gebow, N. Miselis, and H. L. Liber, “Homologous and nonhomologous recombination resulting in deletion: effects of p53 status, microhomology, and repetitive DNA length and orientation,” Molecular and Cellular Biology, vol. 20, no. 11, pp. 4028–4035, 2000. View at Publisher · View at Google Scholar · View at Scopus
  29. P. L. Deininger and M. A. Batzer, “Alu repeats and human disease,” Molecular Genetics and Metabolism, vol. 67, no. 3, pp. 183–193, 1999. View at Publisher · View at Google Scholar · View at Scopus