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
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Research Support, U.S. Gov't, P.H.S.
MeSH terms
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Amino Acid Sequence
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Base Sequence
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Cell Line
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Chromosome Mapping
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Chromosomes, Human, Pair 5
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Cloning, Molecular
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Cockayne Syndrome / genetics*
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Cockayne Syndrome / metabolism*
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DNA Mutational Analysis
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DNA Primers / genetics
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DNA Repair Enzymes
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DNA, Complementary / genetics
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Genetic Complementation Test
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Humans
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Molecular Sequence Data
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Protein Conformation
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Proteins / genetics*
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Proteins / metabolism*
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RNA Polymerase II / chemistry
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RNA Polymerase II / metabolism*
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Sequence Homology, Amino Acid
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Transcription Factor TFIIH
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Transcription Factors / chemistry
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Transcription Factors / metabolism*
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Transcription Factors, TFII*
Substances
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DNA Primers
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DNA, Complementary
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ERCC8 protein, human
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Proteins
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Transcription Factors
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Transcription Factors, TFII
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Transcription Factor TFIIH
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RNA Polymerase II
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DNA Repair Enzymes