InterPro domain: IPR042238

This entry represents a group of DNA excision repair proteins, including Rad28 from budding yeasts [ 1 ], Ckn1 from fission yeasts, ATCSA-1 from Arabidopsis [ 2 ] and ERCC8 (also known as CSA) from animals [ 3 ]. Ckn1 is involved in transcription-coupled nucleotide excision repair [ 4 ]. Human CSA is part of a E3-ubiquitin ligase (E3-ub ligase) complex and plays an important part in transcription-coupled repair (TCR) [ 5 ]. In Arabidopsis, ATCSA-1 is a critical component for initiating the repair of UV-B-induced DNA lesions [ 6 ].

Mutations in the CSA gene cause Cockayne syndrome A (CSA), a rare disorder characterised by cutaneous sensitivity to sunlight, abnormal and slow growth, cachectic dwarfism, progeroid appearance, progressive pigmentary retinopathy and sensorineural deafness [ 6 ].

1. Molecular cloning and characterization of Saccharomyces cerevisiae RAD28, the yeast homolog of the human Cockayne syndrome A (CSA) gene. J. Bacteriol. 178, 5977-88
2. The DDB1a interacting proteins ATCSA-1 and DDB2 are critical factors for UV-B tolerance and genomic integrity in Arabidopsis thaliana. Plant J. 62, 404-15
3. CSA-dependent degradation of CSB by the ubiquitin-proteasome pathway establishes a link between complementation factors of the Cockayne syndrome. Genes Dev. 20, 1429-34
4. Schizosaccharomyces pombe Ddb1 recruits substrate-specific adaptor proteins through a novel protein motif, the DDB-box. Mol. Cell. Biol. 28, 6746-56
5. Cockayne syndrome A and B proteins differentially regulate recruitment of chromatin remodeling and repair factors to stalled RNA polymerase II in vivo. Mol. Cell 23, 471-82
6. CKN1 (MIM 216400): mutations in Cockayne syndrome type A and a new common polymorphism. J. Hum. Genet. 49, 61-3