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

Article Article scientifique Article Complementation of the DNA repair defect in xeroderma pigmentosum group G cells by a human cDNA related to yeast RAD2 eng 1993 author Scherly Daniel 22391 author Nouspikel Thierry 24145 author Corlet Janine 25654 author Ucla Catherine 22206 author Bairoch Amos Marc 0000-0003-2826-6444 21964 author Clarkson Stuart Gordon 25404 182-185 10.1038/363182a0 8483504 0028-0836 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. Amino Acid Sequence Animals Cell Line Cloning, Molecular Cockayne Syndrome/genetics DNA Repair/genetics/radiation effects DNA-Binding Proteins Endodeoxyribonucleases Fungal Proteins/genetics Genetic Complementation Test Humans Lupus Erythematosus, Systemic/genetics Molecular Sequence Data Saccharomyces cerevisiae/genetics Saccharomyces cerevisiae Proteins Sequence Alignment Ultraviolet Rays Xenopus laevis Xeroderma Pigmentosum/genetics Dewey 610/370 Dewey 616 48 Unité de développement et de recherche en éducation médicale 204 54 Département de microbiologie et médecine moléculaire 21B false 57 Calipho 80 Nature 363 6425 7f1986fa-69f3-4d9b-bc57-71e64de136de Article (Published version) Restricted pub_026_8483504.pdf 452495 application/pdf restrictedAccess Faculté de médecine / Unité de développement et de recherche en éducation médicale Faculté de médecine / Section de médecine fondamentale / Département de microbiologie et médecine moléculaire

Title	Published in	Access level	OA Policy	Year	Views	Downloads

Complementation of the DNA repair defect in xeroderma pigmentosum group G cells by a human cDNA related to yeast RAD2	Nature			1993	671	0

Archive ouverte UNIGE

Corlet, Janine