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Functional retroviral vector for gene therapy of xeroderma pigmentosum group D patients.

Carreau, M; Quilliet, X; Eveno, E; Salvetti, A; Danos, O; Heard, JM; Mezzina, M; (1995) Functional retroviral vector for gene therapy of xeroderma pigmentosum group D patients. Hum Gene Ther , 6 (10) pp. 1307-1315. 10.1089/hum.1995.6.10-1307.

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Abstract

Xeroderma pigmentosum (XP) is an autosomal recessive genetic disorder characterized by an increased frequency of skin cancer following minimal sunlight exposure. Cells isolated from XP patients are also hypersensitive to UV rays and UV-like chemicals. This sensitivity is directly related to a defect in the early steps of nucleotide excision repair (NER) of damaged DNA. No efficient treatment is available for this disease and skin cancer prevention can only be achieved by strict avoidance of sunlight exposure. Thus, we are developing a model for gene therapy in XP, particularly for patients belonging to group D. We report here the construction of a retroviral vector (LXPDSN) containing the XPD (ERCC2) cDNA, which fully complements the DNA repair deficiency of primary skin fibroblasts. Efficient integration, mRNA synthesis, and protein expression of the XPD gene were obtained in all LXPDSN-transduced XP-D fibroblasts tested. Full correction of the DNA repair defect was observed with all DNA repair assays used, such as an increased survival after UV-radiation of the transduced cells, a normal level of DNA repair synthesis (UDS), and the reactivation of a UV-irradiated reporter vector. This retroviral vector will be used to modify keratinocytes genetically to produce repair proficient reconstituted skin for engraftment to XP patients.

Type: Article
Title: Functional retroviral vector for gene therapy of xeroderma pigmentosum group D patients.
Location: United States
DOI: 10.1089/hum.1995.6.10-1307
Keywords: Cell Survival, Cells, Cultured, Cloning, Molecular, DNA Helicases, DNA Repair, DNA-Binding Proteins, Fibroblasts, Gene Transfer Techniques, Genetic Complementation Test, Genetic Therapy, Genetic Vectors, Humans, Moloney murine leukemia virus, Phenotype, Proteins, Skin, Transcription Factors, Ultraviolet Rays, Xeroderma Pigmentosum, Xeroderma Pigmentosum Group D Protein
UCL classification: UCL > Provost and Vice Provost Offices
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences > Cancer Institute
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences > Cancer Institute > Research Department of Haematology
URI: http://discovery.ucl.ac.uk/id/eprint/90907
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