http://www.cnr.it/ontology/cnr/individuo/prodotto/ID214574

Molecular analysis of the XP-D gene in Italian families with patients affected by trichothiodystrophy and xeroderma pigmentosum group D. (Articolo in rivista)

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Molecular analysis of the XP-D gene in Italian families with patients affected by trichothiodystrophy and xeroderma pigmentosum group D. (Articolo in rivista) (literal)

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Mondello C, Nardo T, Giliani S, Arrand JE, Weber CA, Lehmann AR, Nuzzo F, Stefanini M. (1994)
Molecular analysis of the XP-D gene in Italian families with patients affected by trichothiodystrophy and xeroderma pigmentosum group D.
in Mutation research. DNA repair (Print)
(literal)

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Mondello C, Nardo T, Giliani S, Arrand JE, Weber CA, Lehmann AR, Nuzzo F, Stefanini M. (literal)

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Mondello C, Nardo T, Giliani S, Nuzzo F, Stefanini M: Istitituto di genetica Molecolare, CNR, Pavia Weber CA: LAWRENCE LIVERMORE NATL LAB,DIV BIOMED SCI,LIVERMORE,CA 94550 Arrand JE, Lehmann AR: UNIV SUSSEX,MRC,CELL MUTAT UNIT,BRIGHTON BN1 9RR,ENGLAND (literal)

Titolo

Molecular analysis of the XP-D gene in Italian families with patients affected by trichothiodystrophy and xeroderma pigmentosum group D. (literal)

Abstract

In several patients with the rare hereditary disorder trichothiodystrophy (TTD), a DNA repair defect has been shown to be in the same gene as in xeroderma pigmentosum complementation group D (XP-D). The ERCC-2 gene (excision repair cross-complementing rodent repair deficiency of group 2) has recently been identified as a strong candidate gene for XP-D, since it restores normal UV sensitivity to XP-D cells after transfection. Using Southern blotting, we have analysed the ERCC-2 gene in DNA samples from 28 members of nine Italian families with individuals affected by XP-D (three patients) or by TTD with photosensitivity due to the XP-D defect (eight patients). No major modifications of the ERCC-2 gene were detected with two cDNA probes in either XP-D or TTD patients indicating that the association between TTD and XP-D is not likely to result from a large deletion or rearrangement involving this gene. We found two RFLPs after digestion of the DNA samples with TaqI or MspI, but neither of them could be related to the molecular alteration determining the pathological phenotype. We also analysed a human homologue detected with the hamster sequence isolated by Arrand et al. (1989), which specifically, but partially, complements the DNA repair deficiency in XP-D cells. Our analysis demonstrated that this gene is not the primary gene defective in XP-D. In fact two RFLPs detected with a genomic probe do not co-segregate with the disease in an XP-D family. (literal)

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