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.
Henning
K A
KA
Department of Pathology, University of Texas Southwestern Medical Center, Dallas 75235, USA.
Li
L
L
Iyer
N
N
McDaniel
L D
LD
Reagan
M S
MS
Legerski
R
R
Schultz
R A
RA
Stefanini
M
M
Lehmann
A R
AR
Mayne
L V
LV
Friedberg
E C
EC
D000595:Amino Acid Sequence; D001483:Base Sequence; D002460:Cell Line; D002874:Chromosome Mapping; D002895:Chromosomes, Human, Pair 5; D003001:Cloning, Molecular; D003057:Cockayne Syndrome / Q000235:genetics* / Q000378:metabolism*; D004252:DNA Mutational Analysis; D017931:DNA Primers / Q000235:genetics; D045643:DNA Repair Enzymes; D018076:DNA, Complementary / Q000235:genetics; D005816:Genetic Complementation Test; D006801:Humans; D008969:Molecular Sequence Data; D011487:Protein Conformation; D011506:Proteins / Q000235:genetics* / Q000378:metabolism*; D012319:RNA Polymerase II / Q000737:chemistry / Q000378:metabolism*; D017386:Sequence Homology, Amino Acid; D051758:Transcription Factor TFIIH; D014157:Transcription Factors / Q000737:chemistry / Q000378:metabolism*; D019473:Transcription Factors, TFII
D017931:DNA Primers; D018076:DNA, Complementary; C095472:ERCC8 protein, human; D011506:Proteins; D014157:Transcription Factors; D019473:Transcription Factors, TFII; D051758:Transcription Factor TFIIH; D012319:RNA Polymerase II; D045643:DNA Repair Enzymes