Complementation of the DNA repair defect in xeroderma pigmentosum group G cells by a human cDNA related to yeast RAD2

Defects in human DNA repair proteins can give rise to the autosomal recessive disorders xeroderma pigmentosum (XP) and Cockayne's syndrome (CS), sometimes even together. Seven XP and three CS complementation groups have been identified that are thought to be due to mutations in genes from the n...

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Bibliographic Details
Published in:Nature (London) 1993-05, Vol.363 (6425), p.182-185
Main Authors: Scherly, Daniel, Nouspikel, Thierry, Corlet, Janine, Ucla, Catherine, Bairoch, Amos, Clarkson, Stuart G
Format: Article
Language:English
Subjects:
Amino Acid Sequence
Animals
Biological and medical sciences
cDNA
Cell Line
Cloning, Molecular
Cockayne Syndrome - genetics
complementation
defects
DNA repair
DNA Repair - genetics
DNA Repair - radiation effects
DNA-Binding Proteins
Endodeoxyribonucleases
expression
Fundamental and applied biological sciences. Psychology
Fungal Proteins - genetics
genes
Genetic Complementation Test
homology
Humans
Lupus Erythematosus, Systemic - genetics
man
Molecular and cellular biology
Molecular genetics
Molecular Sequence Data
Mutagenesis. Repair
predictions
proteins
RAD2 protein
Saccharomyces cerevisiae
Saccharomyces cerevisiae - genetics
Saccharomyces cerevisiae Proteins
Sequence Alignment
Ultraviolet Rays
Xenopus laevis
xeroderma pigmentosum
Xeroderma Pigmentosum - genetics
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Summary:Defects in human DNA repair proteins can give rise to the autosomal recessive disorders xeroderma pigmentosum (XP) and Cockayne's syndrome (CS), sometimes even together. Seven XP and three CS complementation groups have been identified that are thought to be due to mutations in genes from the nucleotide excision repair pathway. Here we isolate frog and human complementary DNAs that encode proteins resembling RAD2, a protein involved in this pathway in yeast. Alignment of these three polypeptides, together with two other RAD2 related proteins, reveals that their conserved sequences are largely confined to two regions. Expression of the human cDNA in vivo restores to normal the sensitivity to ultraviolet light and unscheduled DNA synthesis of lymphoblastoid cells from XP group G, but not CS group A. The XP-G correcting protein XPGC is generated from a messenger RNA of approximately 4 kilobases that is present in normal amounts in the XP-G cell line.
ISSN:0028-0836
1476-4687
DOI:10.1038/363182a0