gene db

Name	CKN1
Organism	Homo sapiens
Aging Phenotype	Shortened life-span
Allele Type	Recessive
Strain	N/A
Description	The main features of Cockayne syndrome are short stature, precociously senile appearance, retinal degeneration, optic atrophy, sensitivity to sunlight, and mental retardation (Paddison et al, 1963). Hypertension and renal disease are common (Higginbottom et al, 1979).
Gene Function	The human CKN1 gene was cloned by functional complementation of group A Cockayne Syndrome (CSA) cells (Henning et al, 1995). The cDNA corrects UV sensitivity in CSA cells. It codes for a WD40 repeat protein and maps to chromosome 5 (Henning et al, 1995). The CKN1 gene is also known as ERCC 8, excision-repair cross-complementing rodent repair deficiency group 8 (Cleaver et al, 1999).
Other Phenotypes	CSA cells are UV-sensitive (Henning et al., 1995).
Homologs	S.c. RAD28, TUP1, PRP5 ... S.p. Spbc577.09, Spac227.12, ... C.e. RBA-2, C14B1.4, LIN-2 ... D.m. CG17437, WDS, EBI, ... R.n. RN.3600, RN.5827, GNB1... M.m. RBBP7, RBBP4, WSB-2 ... H.s. FLJ11071, TAF2D, WDR5 ...
Primary Reference	Paddison, R. M.; Moossy, J.; Derbes, V. J.; Kloepfer, H. W. (1963). Cockayne's syndrome. A report of five new cases with biochemical, chromosomal, dermatologic, genetic and neuropathologic observations. Derm. Trop. 2, 195-203.
Other References	Cleaver, J. E.; Thompson, L. H.; Richardson, A. S.; States, J. C. (1999). A summary of mutations in the UV-sensitive disorders: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy. Hum. Mutat. 14, 9-22. [Abstract] Henning, K. A.; Li, L.; Iyer, N.; McDaniel, L. D.; Reagan, M. S.; Legerski, R.; Schultz, R. A.; Stefanini, M.; Lehmann, A. R.; Mayne, L. V.; Friedberg, E. C. (1995). The Cockayne syndrome group A gene encodes a WD repeat protein that interacts with CSB pr [Abstract] Higginbottom, M. C.; Griswold, W. R.; Jones, K. L.; Vasquez, M. D.; Mendoza, S. A.; Wilson, C. B. (1979). The Cockayne syndrome: an evaluation of hypertension and studies of renal pathology. Pediatrics 64, 929-934 [Abstract]
Relevant Links	OMIM 216400: http://www3.ncbi.nlm.nih.gov/Omim/ LocusLink: http://www.ncbi.nih.gov/LocusLink/LocRpt.cgi?l=1161
Keywords	Homo, sapiens, human, DNA damage, transcription, ERCC8, CSA1