A novel POLH gene mutation in a xeroderma pigmentosum-V Tunisian patient: phenotype–genotype correlation
| Autor: | Sonia Abdelhak, Mariem Ben Rekaya, Ahlem Amouri, M. Zghal, Olfa Messaoud, Hela Azaiez, Mourad Mokni, Samir Boubaker, Amel Ben Osman-Dhahri, Olfa Riahi, Amel Mebazaa, Rim Kefi |
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| Přispěvatelé: | Institut Pasteur de Tunis, Institut Pasteur de Tunis - Réseau International des Instituts Pasteur, Study of Hereditary Keratinization Disorders Research Unit, Hospital de la Rabta, Dermatology Department, La Rabta Hospital of Tunis, Anatomo-Pathology Department, Habib Thameur Hospital, This work was supported by the Tunisian Ministry of Higher Education and Scientific Research (Research Unit on ‘Molecular Investigation of Genetic Orphan Diseases’ UR 04/SP03) and the Tunisian Ministry of Public Health |
| Rok vydání: | 2011 |
| Předmět: |
Male
Skin Neoplasms Tunisia DNA repair phenotype-genotype correlation Late onset DNA-Directed DNA Polymerase Gene mutation xeroderma pigmentosum-V chemistry.chemical_compound Western blot Genetics medicine Humans Gene ComputingMilieux_MISCELLANEOUS Genetic Association Studies Polymerase Aged late-onset phenotype Xeroderma Pigmentosum biology medicine.diagnostic_test Molecular biology Pedigree [SDV] Life Sciences [q-bio] chemistry Mutation Carcinoma Squamous Cell biology.protein novel mutation Age of onset DNA |
| Zdroj: | Journal of Genetics Journal of Genetics, Indian Academy of Sciences, 2011, 90 (3), pp.483-487 |
| ISSN: | 0973-7731 0022-1333 |
| DOI: | 10.1007/s12041-011-0101-y |
| Popis: | XP occurs at higher frequency in Tunisia (1:10,000) than in Japan (1:22,000) (Hirai et al. 2006) and the United States (1 per million) (Kleijer et al. 2008). XP-V cells are unable to synthesize intact daughter DNA strands on UV-irradiated templates resulting from an inability to carry out translesion synthesis (Lehmann et al. 1975; Masutani et al. 1999). Approximately 20% of XP patients belong to XP-V complementation group (Gratchev et al. 2003). In Tunisia, XP is classified into three clinical forms: severe, intermediate with or without neurological abnormalities, and moderate (Zghal et al. 2006). Previous molecular investigation showed homogeneity of mutational spectrum in XPA and XPC genes (Ben Rekaya et al. 2009; Messaoud et al. 2010a,b). The moderate clinical form of XP is characterized by mild dermatological manifestations, no neurological abnormalities and late onset of skin cancers. The median age of onset is 4 years. Mild skin symptoms and late onset of skin tumours have been already described in XP-V (Tanioka et al. 2007), XP-F (Matsumura et al. 1998) and XP-E patients (Rapic-Otrin et al. 2003). Post-UV cell survival in the presence or absence of caffeine (Itoh et al. 2000), unscheduled DNA synthesis (UDS) and detection of polymerase eta employing Western blot (Tanioka et al. 2007) cannot define exactly the molecular defects are in the polymerase eta. These laboratory assays are used to find out the UV sensitivities of the patients’ cells and the DNA repair status of their cells as |
| Databáze: | OpenAIRE |
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