Conditional knockout of the murine patched gene for the study of skin differentiation and cancer.

基底细胞癌是澳大利亚最常见的癌症。我们最近从新生血管样基底细胞癌综合征(NBCCS)患者的分析中分离出BCC基因Patched(PTCH)。NBCCS患者除了有包括髓母细胞瘤、横纹肌肉瘤和卵巢纤维瘤在内的癌症倾向外，还有各种各样的发育缺陷，以及多发性基底细胞癌。这项应用提出了通过选择性地从皮肤的特定细胞中移除补丁基因功能来产生皮肤发育和癌症的动物模型。通过这样做，我们将能够确定该基因在皮肤发育中的确切作用，以及突变如何导致常见的皮肤癌。

Basal cell carcinoma (BCC) is the most common cancer in Australia. We recently isolated the BCC gene, Patched (PTCH) from analysis of patients with Naevoid Basal Cell Carcinoma Syndrome (NBCCS). Individuals with NBCCS have a wide variety of developmental defects in addition to a cancer predisposition which includes medulloblastoma, rhabdomyosarcoma and ovarian fibroma as well as multiple BCCs. This application proposes the generation of an animal model for skin development and cancer by selectively removing patched gene function from specific cell of the skin. In doing this we will be able to determine the exact role of this gene in skin development, and how mutation causes common skin cancer.