Cylindromatosis (turban tumor syndrome), also known as CYLD, is a human gene.[1]
This gene encodes a cytoplasmic protein with three cytoskeletal-associated protein-glycine-conserved (CAP-GLY) domains that functions as a deubiquitinating enzyme. Mutations in this gene have been associated with cylindromatosis, multiple familial trichoepithelioma, and Brooke–Spiegler syndrome. Alternate transcriptional splice variants, encoding different isoforms, have been characterized.[1]
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Lian F, Cockerell CJ (2006). "Cutaneous appendage tumors: familial cylindromatosis and associated tumors update". Advances in dermatology. 21: 217–34. doi:10.1016/j.yadr.2005.06.005. PMID16350444.
Biggs PJ, Wooster R, Ford D, et al. (1996). "Familial cylindromatosis (turban tumour syndrome) gene localised to chromosome 16q12-q13: evidence for its role as a tumour suppressor gene". Nat. Genet. 11 (4): 441–3. doi:10.1038/ng1295-441. PMID7493027.
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Biggs PJ, Chapman P, Lakhani SR, et al. (1996). "The cylindromatosis gene (cyld1) on chromosome 16q may be the only tumour suppressor gene involved in the development of cylindromas". Oncogene. 12 (6): 1375–7. PMID8649842.
Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, et al. (1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–56. doi:10.1016/S0378-1119(97)00411-3. PMID9373149.
Nagase T, Ishikawa K, Suyama M, et al. (1999). "Prediction of the coding sequences of unidentified human genes. XII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro". DNA Res. 5 (6): 355–64. doi:10.1093/dnares/5.6.355. PMID10048485.
Thomson SA, Rasmussen SA, Zhang J, Wallace MR (1999). "A new hereditary cylindromatosis family associated with CYLD1 on chromosome 16". Hum. Genet. 105 (1–2): 171–3. doi:10.1007/s004390051083. PMID10480375.
Bignell GR, Warren W, Seal S, et al. (2000). "Identification of the familial cylindromatosis tumour-suppressor gene". Nat. Genet. 25 (2): 160–5. doi:10.1038/76006. PMID10835629.
Trompouki E, Hatzivassiliou E, Tsichritzis T, et al. (2003). "CYLD is a deubiquitinating enzyme that negatively regulates NF-kappaB activation by TNFR family members". Nature. 424 (6950): 793–6. doi:10.1038/nature01803. PMID12917689.
Brummelkamp TR, Nijman SM, Dirac AM, Bernards R (2003). "Loss of the cylindromatosis tumour suppressor inhibits apoptosis by activating NF-kappaB". Nature. 424 (6950): 797–801. doi:10.1038/nature01811. PMID12917690.
Kovalenko A, Chable-Bessia C, Cantarella G, et al. (2003). "The tumour suppressor CYLD negatively regulates NF-kappaB signalling by deubiquitination". Nature. 424 (6950): 801–5. doi:10.1038/nature01802. PMID12917691.
Hu G, Onder M, Gill M, et al. (2003). "A novel missense mutation in CYLD in a family with Brooke-Spiegler syndrome". J. Invest. Dermatol. 121 (4): 732–4. doi:10.1046/j.1523-1747.2003.12514.x. PMID14632188.
Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID14702039.
Zhang XJ, Liang YH, He PP, et al. (2004). "Identification of the cylindromatosis tumor-suppressor gene responsible for multiple familial trichoepithelioma". J. Invest. Dermatol. 122 (3): 658–64. doi:10.1111/j.0022-202X.2004.22321.x. PMID15086550.
Jono H, Lim JH, Chen LF, et al. (2004). "NF-kappaB is essential for induction of CYLD, the negative regulator of NF-kappaB: evidence for a novel inducible autoregulatory feedback pathway". J. Biol. Chem. 279 (35): 36171–4. doi:10.1074/jbc.M406638200. PMID15226292.