Johnson R L, Rothman A L, Xie J, Goodrich L V, Bare J W, Bonifas J M, Quinn A G, Myers R M, Cox D R, Epstein E H, Scott M P
Department of Developmental Biology, Howard Hughes Medical Institute, Stanford University School of Medicine, California 94305-5427, USA.
Science. 1996 Jun 14;272(5268):1668-71. doi: 10.1126/science.272.5268.1668.
The basal cell nevus syndrome (BCNS) is characterized by developmental abnormalities and by the postnatal occurrence of cancers, especially basal cell carcinomas (BCCs), the most common human cancer. Heritable mutations in BCNS patients and a somatic mutation in a sporadic BCC were identified in a human homolog of the Drosophila patched (ptc) gene. The ptc gene encodes a transmembrane protein that in Drosophila acts in opposition to the Hedgehog signaling protein, controlling cell fates, patterning, and growth in numerous tissues. The human PTC gene appears to be crucial for proper embryonic development and for tumor suppression.
基底细胞痣综合征（BCNS）的特征是发育异常以及出生后发生癌症，尤其是基底细胞癌（BCC），这是人类最常见的癌症。在果蝇patched（ptc）基因的人类同源物中，发现了BCNS患者的遗传性突变以及散发性BCC中的体细胞突变。ptc基因编码一种跨膜蛋白，在果蝇中，该蛋白与刺猬信号蛋白起相反作用，控制许多组织中的细胞命运、模式形成和生长。人类PTC基因似乎对正常胚胎发育和肿瘤抑制至关重要。
