Correction by the ERCC2 gene of UV sensitivity and repair deficiency phenotype in a subset of trichothiodystrophy cells. - Archive ouverte HAL
Article Dans Une Revue Carcinogenesis Année : 1994

Correction by the ERCC2 gene of UV sensitivity and repair deficiency phenotype in a subset of trichothiodystrophy cells.

C Mezzina
  • Fonction : Auteur
C Chevallier-Lagente
  • Fonction : Auteur
A. Benoît
  • Fonction : Auteur
C. Carreau
  • Fonction : Auteur
W Vermeulen
  • Fonction : Auteur
J Hoeijmakers
  • Fonction : Auteur
M Stefanini
  • Fonction : Auteur
A. Lehmann
  • Fonction : Auteur
C Weber
  • Fonction : Auteur

Résumé

Trichothiodystrophy (TTD) is a rare genetic disease with heterogeneous clinical features associated with specific deficiencies in nucleotide excision repair. Patients have brittle hair due to a reduced content of cysteine-rich matrix proteins. About 50% of the cases reported in the literature are photosensitive. In these patients an altered cellular response to UV, due to a specific deficiency in nucleotide excision repair, has been observed. The majority of repair-defective TTD patients have been assigned by complementation analysis to group D of xeroderma pigmentosum (XP). Recently, the human excision repair gene ERCC2 has been shown to correct the UV sensitivity of XP-D fibroblasts. In this work we describe the effect of ERCC2 on the DNA repair deficient phenotype of XP-D and on two repair-defective TTD cell strains (TTD1VI and TTD2VI) assigned by complementation analysis to group D of XP. ERCC2 cDNA, cloned into a mammalian expression vector, was introduced into TTD and XP fibroblasts via DNA-mediated transfection or microneedle injection. UV sensitivity and cellular DNA repair properties, including unscheduled DNA synthesis and reactivation of a UV-irradiated plasmid containing the chloramphenicol acetyltransferase reporter gene (pRSVCat), were corrected to wild-type levels in both TTD and XP-D cells. These data show that a functional ERCC2 gene is sufficient to reestablish a wild-type DNA repair phenotype in TTD1VI and TTD2VI cells, confirming the genetic relationship between TTD and XP-D. Furthermore, our findings suggest that mutations at the ERCC2 locus are responsible for causing a similar phenotype in TTD and XP-D cells in response to UV irradiation, but produce quite different clinical symptoms.
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Dates et versions

hal-02115514 , version 1 (30-04-2019)

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  • HAL Id : hal-02115514 , version 1
  • PUBMED : 8055625

Citer

C Mezzina, Eric Eveno, C Chevallier-Lagente, A. Benoît, C. Carreau, et al.. Correction by the ERCC2 gene of UV sensitivity and repair deficiency phenotype in a subset of trichothiodystrophy cells.. Carcinogenesis, 1994, 15 (8), pp.1493-8. ⟨hal-02115514⟩

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