国际皮肤性病学杂志    2005 31 (4): 250-252   ISSN: 2096-5540  CN: 32-1880/R   多发性家族性毛发上皮瘤致病基因的研究进展 王剑1, 刘建军1,2, 张学军1 1. 安徽医科大学皮肤病研究所、第一附属医院皮肤科, 合肥230022; 2. 新加坡国立研究所基因研究中心 收稿日期 2004-09-23  修回日期 null  网络版发布日期 null 参考文献  [1] Harada H, Hashimoto K, Ko MS. The gene for multiple familial trichoepithelioma maps to chromosome 9p21. J Invest Dermatol, 1996,107:41-43. [2] Gailani MR, Bale SJ, Leffell DJ,et al. Developmental defects in Gorlin syndrome related to a putative tumor suppressor gene on chromosome 9.Cell, 1992, 69:111-117. [3] Olopade OI, Pomykala HM, Hagos F, et al. Construction of a 2.8-megabase yeast artificial chromosome contig and cloning of the human methylthioadenosine phosphorylase gene from the tumor suppressor region on 9p21. Proc Natl Acad Sci U S A, 1995, 92:6489-6493. [4] Matt D, Xin H, Vortmeyer AO, et al. Sporadic trichoepithelioma demonstrates deletions at 9q22.3. Arch Dermatol, 2000, 136:657-660. [5] Gerretsen AL, Beemer FA, Deenstra W, et al. Familial cutaneous cylindromas: investigations in five generations of a family. J Am Acad Dermatol, 1995, 33(2 Pt 1):199-206. [6] Biggs PJ, Wooster R, Ford D, et al. Familial cylindromatosis (turban tumour syndrome) gene localised to chromosome 16q12-q13: evidence for its role as a tumour suppressor gene. Nat Genet, 1995, 11:441-443. [7] Verhoef S, Schrander-Stumpel CT, Vuzevski VD, et al. Familial cylindromatosis mimicking tuberous sclerosis complex and confirmation of the cylindromatosis locus, CYLD1, in a large family. J Med Genet, 1998,35:841-845. [8] Thomson SA, Rasmussen SA, Zhang J, et al. A new hereditary cylindromatosis family associated with CYLD1 on chromosome 16. Hum Genet, 1999, 105:171-173. [9] Takahashi M, Rapley E, Biggs PJ, et al. Linkage and LOH studies in19 cylindromatosis families show no evidence of genetic heterogeneity and refine the CYLD locus on chromosome 16q12-q13. Hum Genet,2000, 106:58-65. [10] Leonard N, Chaggar R, Jones C, et al. Loss of heterozygosity at cylindromatosis gene locus, CYLD, in sporadic skin adnexal tumours. J Clin Pathol, 2001, 54:689-692. [11] Zhang X J, Liang YH, He PP, et al. Identification of the cylindromatosis tumor-suppressor gene responsible for multiple familial trichoepithelioma. J Invest Dermatol, 2004, 122:658-664. [12] Salhi A, Bornholdt D, Oeffner F, et al. Multiple familial trichoepithelioma caused by mutations in the cylindromatosis tumor suppressor gene. Cancer Res, 2004, 64:5113-5117. [13] Bignell GR, Warren W, Seal S, et al. Identification of the familial cylindromatosis tumour-suppressor gene. Nat Genet, 2000, 25:160-165. [14] Poblete Gutierrez P, Eggermann T, Holler D, et al. Phenotype diversity in familial cylindromatosis: a frameshift mutation in the tumor suppressor gene CYLD underlies different tumors of skin appendages.J Invest Dermatol, 2002, 119:527-531. [15] Zheng G, Hu L, Huang W, et al. CYLD mutation causes multiple familial trichoepithelioma in three Chinese families. Hum Mutat, 2004,23:400. [16] Trompouki E, Hatzivassiliou E, Tsichritzis T, et al. CYLD is a deubiquitinating enzyme that negatively regulates NF-kappaB activation by TNFR family members. Nature, 2003, 424: 793-796. [17] Brummelkamp TR, Nijman SM, Dirac AM, et al. Loss of the cylindromatosis tumour suppressor inhibits apoptosis by activating NF-kappaB. Nature, 2003, 424:797-801. [18] Kovalenko A, Chable-Bessia C, Cantarella G, et al. The tumour suppressor CYLD negatively regulates NF-kappaB signalling by deubiquitination. Nature, 2003, 424:801-805. 通讯作者: 张学军, E-mail:ayzxj@mail.hf.ah.cn