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

Nature. 1993 May 13;363(6425):182-5. doi: 10.1038/363182a0.

Abstract

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Sequence
  • Animals
  • Cell Line
  • Cloning, Molecular
  • Cockayne Syndrome / genetics
  • DNA Repair / genetics*
  • DNA Repair / 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*

Substances

  • DNA-Binding Proteins
  • Fungal Proteins
  • Saccharomyces cerevisiae Proteins
  • RAD2 protein, S cerevisiae
  • Endodeoxyribonucleases

Associated data

  • GENBANK/X69977
  • GENBANK/X69978
  • SWISSPROT/P14629
  • SWISSPROT/P28715