Five polymorphisms in the coding sequence of the xeroderma pigmentosum group D gene

Mutation Research - DNA Repair

Volumn 362, Issue 2, 1996, Pages 209-211

  Broughton, Bernard C ^a   Steingrimsdottir, Herdis ^a   Lehmann, Alan R ^a  

^a UNIVERSITY OF SUSSEX   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

DNA REPAIR; GENETIC POLYMORPHISM; HUMAN; MUTATION; PRIORITY JOURNAL; SHORT SURVEY; XERODERMA PIGMENTOSUM;

EID: 0030064074     PISSN: 09218777     EISSN: None     Source Type: Journal    
DOI: 10.1016/0921-8777(95)00054-2     Document Type: Article

References (13)

1. Bootsma, D. and Hoeijmakers, J.H.J. (1993) Engagement with transcription. Nature, 363, 114-115.
2. Broughton, B.C., Steingrimsdottir, H., Weber, C. and Lehmann, A.R. (1994) Mutations in the xeroderma pigmentosum group D DNA repair gene in patients with trichothiodystrophy. Nature Genet., 7, 189-194.
3. Broughton, B.C., Thompson, A.F., Harcourt, S.A., Vermeulen, W., Hoeijmakers, J.H.J., Botta, E., Stefanini, M., King, M., Weber, C., Cole, J., Arlett, C.F. and Lehmann, A.R. (1995) Molecular and cellular analysis of the DNA repair defect in a patient in xeroderma pigmentosum complementation group D with the clinical features of xeroderma pigmentosum and Cockayne Syndrome. Am. J. Hum. Genet., 56, 167-174.
4. Condie, A., Eeles, R., Borresen, A.-L., Coles, C., Cooper, C. and Prosser, J. (1993) Detection of point mutationsin the p53 gene: comparison of single-strand conformation polymorphism, constant denaturant gel electrophoresis and hydroxylamine and osmium tetroxide techniques. Human Mutation, 2, 58-66.
5. Hoeijmakers, J.H.J. (1993) Nucleotide excision repair II: from yeast to mammals. Trends Genet., 9, 211-217.
6. Johnson, R.T. and Squires, S. (1992) The XP-D complementation group. Insight into xeroderma pigmentosum, Cockayne's syndrome and trichothiodystrophy. Mutation Res., 273, 97-118.
7. Lehmann, A.R. (1995) The molecular biology of nucleotide excision repair and double-strand break repair in eukaryotes, in: Setlow, J.K. (Ed.), Genetic Engineering, Plenum Press, New York. Vol. 17, 1-17.
8. Mohrenweiser, H.W., Carrano, A.V., Fertitta, A., Perry, B., Thompson, L.H., Tucker, J.D. and Weber, C.A. (1989) Refined mapping of the three DNA repair genes, ERCC1, ERCC2 and XRCC1, on human chromosome 19. Cytogenet. Cell Genet., 52, 11-14.
9. Schaeffer, L., Monocollin, V., Roy, R., Staub, A., Mezzina, M., Sarasin, A., Weeda, G., Hoeijmakers, J.H.J. and Egly, J.M. (1994) The ERCC2/DNA repair protein is associated with the class II BTF2/TFIIH transcription factor. EMBO J. 13, 2388-2392.
10. Stefanini, M., Lagomarsini, P., Giliani, S., Nardo, T., Botta, E., Peserico, A., Kleijer, W.J., Lehmann, A.R. and Sarasin, A. (1993) Genetic heterogeneity of the excision repair defect associated with trichothiodystrophy. Carcinogenesis, 14, 1101-1105.
11. Sung, P., Bailly, V., Weber, C., Thompson, L.H., Prakash, L. and Prakash, S. (1993) Human xeroderma pigmentosum group D gene encodes a DNA helicase. Nature, 365, 852-855.
12. Takayama, K., Salazar, E.P., Lehmann, A., Stefanini, M., Thompson, L.H. and Weber, C. (1995) Defects in the DNA repair and transcription gene ERCC2 in the cancer - prone disorder xeroderma pigmentosum group D. Cancer Res., in press.
13. Vermeulen, W., van Vuuren, A.J., Chipoulet, M., Schaeffer, L., Appeldoorn, E., Weeda, G., Jaspers, N.G.J., Priestley, A., Arlett, C.F., Lehmann, A.R., Stefanini, M., Mezzina, M., Sarasin. A., Bootsma, D., Egly, J.-M. and Hoeijmakers, J.H.J. (1994) Three excison repair proteins in transcription factor BTF2(TFIIH). Evidence for the existence of a transcription syndrome. Cold Spring Harbor Symp. Quant. Biol., LIX, 317-329.