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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.

Cell | Aug 25, 1995

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 RIS Download

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

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Associated grants

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

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