NameCKN1
OrganismHomo sapiens
Aging PhenotypeShortened life-span
Allele TypeRecessive
StrainN/A
DescriptionThe 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 FunctionThe 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 PhenotypesCSA cells are UV-sensitive (Henning et al., 1995).
HomologsS.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 ReferencePaddison, 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 ReferencesCleaver, 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 LinksOMIM 216400: http://www3.ncbi.nlm.nih.gov/Omim/
LocusLink: http://www.ncbi.nih.gov/LocusLink/LocRpt.cgi?l=1161
KeywordsHomo, sapiens, human, DNA damage, transcription, ERCC8, CSA1