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The Cockayne syndrome group A gene encodes a WD repeat protein that interacts with CSB protein and a subunit of RNA polymerase II TFIIH.

The hereditary disease Cockayne syndrome (CS) is characterized by a complex clinical phenotype. CS cells are abnormally sensitive to ultraviolet radiation and are defective in the repair of transcriptionally active genes. The cloned CSB gene encodes a member of a protein family that includes the yeast Snf2 protein, a component of the transcriptional regulator Swi/Snf. We report the cloning of the CSA cDNA, which can encode a WD repeat protein. Mutations in the cDNA have been identified in CS-A cell lines. CSA protein interacts with CSB protein and with p44 protein, a subunit of the human RNA polymerase II transcription factor IIH. These observations suggest that the products of the CSA and CSB genes are involved in transcription.

Pubmed ID: 7664335


  • Henning KA
  • Li L
  • Iyer N
  • McDaniel LD
  • Reagan MS
  • Legerski R
  • Schultz RA
  • Stefanini M
  • Lehmann AR
  • Mayne LV
  • Friedberg EC



Publication Data

August 25, 1995

Associated Grants

  • Agency: NCI NIH HHS, Id: CA-16672
  • Agency: NCI NIH HHS, Id: CA-44247
  • Agency: NCI NIH HHS, Id: CA-52461

Mesh Terms

  • Amino Acid Sequence
  • Base Sequence
  • Cell Line
  • Chromosome Mapping
  • Chromosomes, Human, Pair 5
  • Cloning, Molecular
  • Cockayne Syndrome
  • DNA Mutational Analysis
  • DNA Primers
  • DNA Repair Enzymes
  • DNA, Complementary
  • Genetic Complementation Test
  • Humans
  • Molecular Sequence Data
  • Protein Conformation
  • Proteins
  • RNA Polymerase II
  • Sequence Homology, Amino Acid
  • Transcription Factor TFIIH
  • Transcription Factors
  • Transcription Factors, TFII