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. 1995 Aug 25;82(4):555-64. doi: 10.1016/0092-8674(95)90028-4.

Abstract

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.

Publication types

  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

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

Substances

  • DNA Primers
  • DNA, Complementary
  • ERCC8 protein, human
  • Proteins
  • Transcription Factors
  • Transcription Factors, TFII
  • Transcription Factor TFIIH
  • RNA Polymerase II
  • DNA Repair Enzymes

Associated data

  • GENBANK/U28413