DNA damage and gene therapy of xeroderma pigmentosum, a human DNA repair-deficient disease

Author(s):  
Aurélie Dupuy ◽  
Alain Sarasin
Author(s):  
Mauro Mezzina ◽  
Lin Zeng ◽  
Xavier Quilliet ◽  
Monique Vuillaume ◽  
Francine Puvion-Dutilleul ◽  
...  

1990 ◽  
Vol 11 (3) ◽  
pp. 499-503 ◽  
Author(s):  
Gregory J. Tsongalis ◽  
W.Clark Lambert ◽  
Muriel W. Lambert

1998 ◽  
Vol 273 (2) ◽  
pp. 1092-1098 ◽  
Author(s):  
G. Sebastiaan Winkler ◽  
Wim Vermeulen ◽  
Frédéric Coin ◽  
Jean-Marc Egly ◽  
Jan H. J. Hoeijmakers ◽  
...  

2008 ◽  
Vol 29 (5) ◽  
pp. 1276-1290 ◽  
Author(s):  
Jaan-Olle Andressoo ◽  
Geert Weeda ◽  
Jan de Wit ◽  
James R. Mitchell ◽  
Rudolf B. Beems ◽  
...  

ABSTRACT Patients carrying mutations in the XPB helicase subunit of the basal transcription and nucleotide excision repair (NER) factor TFIIH display the combined cancer and developmental-progeroid disorder xeroderma pigmentosum/Cockayne syndrome (XPCS). Due to the dual transcription repair role of XPB and the absence of animal models, the underlying molecular mechanisms of XPBXPCS are largely uncharacterized. Here we show that severe alterations in Xpb cause embryonic lethality and that knock-in mice closely mimicking an XPCS patient-derived XPB mutation recapitulate the UV sensitivity typical for XP but fail to show overt CS features unless the DNA repair capacity is further challenged by crossings to the NER-deficient Xpa background. Interestingly, the Xpb XPCS Xpa double mutants display a remarkable interanimal variance, which points to stochastic DNA damage accumulation as an important determinant of clinical diversity in NER syndromes. Furthermore, mice carrying the Xpb XPCS mutation together with a point mutation in the second TFIIH helicase Xpd are healthy at birth but display neonatal lethality, indicating that transcription efficiency is sufficient to permit embryonal development even when both TFIIH helicases are crippled. The double-mutant cells exhibit sensitivity to oxidative stress, suggesting a role for endogenous DNA damage in the onset of XPB-associated CS.


1981 ◽  
Vol 56 (2) ◽  
pp. 105-115 ◽  
Author(s):  
Kanji ISHIZAKI ◽  
Akihiro SHIMA ◽  
Toyozo SEKIGUCHI ◽  
Hiraku TAKEBE

1996 ◽  
Vol 93 (16) ◽  
pp. 8368-8373 ◽  
Author(s):  
M. S. Park ◽  
J. A. Knauf ◽  
S. H. Pendergrass ◽  
C. H. Coulon ◽  
G. F. Strniste ◽  
...  

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