- About this Journal ·
- Abstracting and Indexing ·
- Advance Access ·
- Aims and Scope ·
- Annual Issues ·
- Article Processing Charges ·
- Articles in Press ·
- Author Guidelines ·
- Bibliographic Information ·
- Citations to this Journal ·
- Contact Information ·
- Editorial Board ·
- Editorial Workflow ·
- Free eTOC Alerts ·
- Publication Ethics ·
- Reviewers Acknowledgment ·
- Submit a Manuscript ·
- Subscription Information ·
- Table of Contents
BioMed Research International
Volume 2013 (2013), Article ID 316286, 7 pages
Further Evidence of Mutational Heterogeneity of the XPC Gene in Tunisian Families: A Spectrum of Private and Ethnic Specific Mutations
1Laboratoire de Génomique Biomédicale et Oncogénétique (LR 11 IPT 05), Institut Pasteur de Tunis and Université de Tunis El Manar, El Manar I, 2092 Tunis, Tunisia
2Département de Dermatologie, Hôpital Charles Nicolle de Tunis, 1006 Tunis, Tunisia
3Service d'ORL et de Chirurgie Cervico-Faciale, Hôpital Habib Thameur, 1008 Tunis, Tunisia
4Unité de recherche “Troubles Héréditaires de la Kératinisation” UR 24/04, Hôpital La Rabta de Tunis, 1007 Tunis, Tunisia
5Département de Dermatologie, Hôpital La Rabta de Tunis, 1007 Tunis, Tunisia
6Département d'Oncologie Médicale, Hôpital Abderrahman Mami, 2080 Ariana, Tunisia
7Laboratoire d'Anatomie Pathologique Humaine et Expérimentale, Institut Pasteur de Tunis, 1002 Tunis, Tunisia
Received 3 April 2013; Revised 27 May 2013; Accepted 2 July 2013
Academic Editor: Sanford I. Bernstein
Copyright © 2013 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.
- J. J. Digiovanna and K. H. Kraemer, “Shining a light on xeroderma pigmentosum,” Journal of Investigative Dermatology, vol. 132, no. 3, pp. 785–796, 2012.
- J. E. Cleaver, “Cancer in xeroderma pigmentosum and related disorders of DNA repair,” Nature Reviews Cancer, vol. 5, no. 7, pp. 564–573, 2005.
- 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.
- W. J. Kleijer, V. Laugel, M. Berneburg et al., “Incidence of DNA repair deficiency disorders in western Europe: xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy,” DNA Repair, vol. 7, no. 5, pp. 744–750, 2008.
- Y. Hirai, Y. Kodama, S.-I. Moriwaki et al., “Heterozygous individuals bearing a founder mutation in the XPA DNA repair gene comprise nearly 1% of the Japanese population,” Mutation Research, vol. 601, no. 1-2, pp. 171–178, 2006.
- N. Soufir, C. Ged, A. Bourillon et al., “A prevalent mutation with founder effect in xeroderma pigmentosum group C from north Africa,” Journal of Investigative Dermatology, vol. 130, no. 6, pp. 1537–1542, 2010.
- N. Ben Halim, N. Ben Alaya Bouafif, L. Romdhane et al., “Consanguinity, endogamy, and genetic disorders in Tunisia,” The Journal of Community Genetics, vol. 4, pp. 273–284, 2013.
- M. Ben Rekaya, O. Messaoud, F. Talmoudi et al., “High frequency of the V548A fs X572 XPC mutation in Tunisia: implication for molecular diagnosis,” Journal of Human Genetics, vol. 54, no. 7, pp. 426–429, 2009.
- O. Messaoud, M. Ben Rekaya, W. Cherif et al., “Genetic homogeneity of mutational spectrum of group-A xeroderma pigmentosum in Tunisian patients,” International Journal of Dermatology, vol. 49, no. 5, pp. 544–548, 2010.
- S. Bergink, W. Toussaint, M. S. Luijsterburg et al., “Recognition of DNA damage by XPC coincides with disruption of the XPC-RAD23 complex,” Journal of Cell Biology, vol. 196, no. 6, pp. 681–688, 2012.
- F. Cartault, C. Nava, A.-C. Malbrunot et al., “A new XPC gene splicing mutation has lead to the highest worldwide prevalence of xeroderma pigmentosum in black Mahori patients,” DNA Repair, vol. 10, no. 6, pp. 577–585, 2011.
- Y. Doubaj, F.-Z. Laarabi, S. Chafai Elalaoui, A. Barkat, and A. Sefiani, “Carrier frequency of the recurrent mutation c.1643-1644delTG in the XPC gene and birth prevalence of the xeroderma pigmentosum in Morocco,” Journal of Dermatology, vol. 39, no. 4, pp. 382–384, 2012.
- M. A. Senhaji, O. Abidi, S. Nadifi et al., “c.1643_1644delTG XPC mutation is more frequent in Moroccan patients with xeroderma pigmentosum,” Archives of Dermatological Research, vol. 305, pp. 53–57, 2013.
- 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, p. 1215, 1988.
- P. Chomczynski and N. Sacchi, “Single-step method of RNA isolation by acid guanidinium thiocyanate-phenol-chloroform extraction,” Analytical Biochemistry, vol. 162, no. 1, pp. 156–159, 1987.
- S. Hadj-Rabia, D. Oriot, N. Soufir et al., “Unexpected extradermatological findings in 31 -Xeroderma Pigmentosum type C patients,” British Journal of Dermatology, vol. 168, no. 5, pp. 1109–1113, 2012.
- P. T. Bradford, A. M. Goldstein, D. Tamura et al., “Cancer and neurologic degeneration in xeroderma pigmentosum: long term follow-up characterises the role of DNA repair,” Journal of Medical Genetics, vol. 48, no. 3, pp. 168–176, 2011.
- N. A. Bowden, K. A. Ashton, K. A. Avery-Kiejda, X. D. Zhang, P. Hersey, and R. J. Scott, “Nucleotide excision repair gene expression after cisplatin treatment in melanoma,” Cancer Research, vol. 70, no. 20, pp. 7918–7926, 2010.
- T. Budden and N. A. Bowden, “The role of altered nucleotide excision repair and UVB-induced DNA damage in melanomagenesis,” International Journal of Molecular Sciences, vol. 14, no. 1, pp. 1132–1151, 2013.
- M. L. Khatri, M. Bemghazil, M. Shafi, and A. Machina, “Xeroderma pigmentosum in Libya,” International Journal of Dermatology, vol. 38, no. 7, pp. 520–524, 1999.
- S. Karger, K. Krause, C. Engelhardt et al., “Distinct pattern of oxidative DNA damage and DNA repair in follicular thyroid tumours,” Journal of Molecular Endocrinology, vol. 48, pp. 193–202, 2012.
- E. Conti and E. Izaurralde, “Nonsense-mediated mRNA decay: molecular insights and mechanistic variations across species,” Current Opinion in Cell Biology, vol. 17, no. 3, pp. 316–325, 2005.
- R. U. Sidwell, A. Sandison, J. Wing et al., “A novel mutation in the XPA gene associated with unusually mild clinical features in a patient who developed a spindle cell melanoma,” British Journal of Dermatology, vol. 155, no. 1, pp. 81–88, 2006.
- S. G. Khan, A. Metin, E. Gozukara et al., “Two essential splice lariat branchpoint sequences in one intron in a xeroderma pigmentosum DNA repair gene: mutations results in reduced XPC mRNA levels that correlate with cancre risk,” Human Molecular Genetics, vol. 13, no. 3, pp. 343–352, 2004.
- L. Romdhane, R. Kefi, H. Azaiez, N. Ben Halim, K. Dellagi, and S. Abdelhak, “Founder mutations in Tunisia: implications for diagnosis in North Africa and Middle East,” Orphanet Journal of Rare Diseases, vol. 7, pp. 1750–1172, 2012.
- M. Krawczak, D. N. Cooper, and J. Schmidtke, “Estimating the efficacy and efficiency of cascade genetic screening,” American Journal of Human Genetics, vol. 69, no. 2, pp. 361–370, 2001.
- J. K. Morris, M. R. Law, and N. J. Wald, “Is cascade testing a sensible method of screening a population for autosomal recessive disorders?” American Journal of Medical Genetics A, vol. 128A, no. 3, pp. 271–275, 2004.