Defects in the DNA repair and transcription gene ERCC2(XPD) in trichothiodystrophy

American Journal of Human Genetics

Volumn 58, Issue 2, 1996, Pages 263-270

  Takayama, Kyoko ^a   Salazar, Edmund P ^a   Broughton, Bernard C ^b   Lehmann, Alan R ^b   Sarasin, Alain ^c   Thompson, Larry H ^a   Weber, Christine A ^a  

^a LAWRENCE LIVERMORE NATIONAL LABORATORY   (United States)

^b UNIVERSITY OF SUSSEX   (United Kingdom)

^c Inst de Rech Scientifiques SC   (France)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; ARGININE; CYSTEINE; DNA; HISTIDINE; LEUCINE; NUCLEOTIDE; PROLINE; RNA; SULFUR; VALINE;

ALLELE; ARTICLE; CHILD; DNA REPAIR; DNA SYNTHESIS; FEMALE; GENE; HUMAN; HUMAN CELL; INFANT; MALE; MUTATION; NUCLEOTIDE SEQUENCE; PHOTOSENSITIVITY; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; TRICHOTHIODYSTROPHY;

ALLELES; BASE SEQUENCE; CELL SURVIVAL; CELLS, CULTURED; CLONING, MOLECULAR; DNA HELICASES; DNA REPAIR; DNA-BINDING PROTEINS; FEMALE; HAIR; HAIR DISEASES; HUMANS; INFANT; MALE; MOLECULAR SEQUENCE DATA; PHOTOSENSITIVITY DISORDERS; POINT MUTATION; PROTEINS; SEQUENCE ALIGNMENT; SEQUENCE ANALYSIS; SEQUENCE DELETION; TRANSCRIPTION FACTORS; ULTRAVIOLET RAYS; XERODERMA PIGMENTOSUM; XERODERMA PIGMENTOSUM GROUP D PROTEIN;

EID: 0030051768     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (5)

1. Bailly V, Sung P, Prakash L, Prakash S (1991) DNA·RNA helicase activity of RAD3 protein of Saccharomyces cerevisiae. Proc Natl Acad Sci USA 88:9712-9716
2. Bootsma D, Hoeijmakers JHJ (1994) The molecular basis of nucleotide excision repair syndromes. Mutat Res 307:1523
3. Broughton BC, Lehmann AR, Harcourt SA, Arlett CF, Sarasin A, Kleijer WJ, Beemer FA, et al (1990) Relationship between pyrimidine dimers, 6-4 photoproducts, repair synthesis and cell survival: studies using cells from patients with trichothiodystrophy. Mutat Res 235:33-40
4. Broughton BC, Steingrimsdottir H, Lehmann AR. Five polymorphisms in the xeroderma pigmentosum group D gene. Mutat Res (in press)
5. Broughton BC, Steingrimsdottir H, Weber CA, Lehmann AR (1994) Mutations in the xeroderma pigmentosum group D DNA repair gene in patients with trichothiodystrophy. Nat Genet 7:189-194