Mouse tumor model for neurofibromatosis type 1
Mouse tumor model for neurofibromatosis type 1
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DOI：
10.1126/science.286.5447.2176
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发表时间：
1999-12-10
期刊：
影响因子：
56.9
通讯作者：
Parada, LF
中科院分区：
文献类型：
--
作者：
Vogel, KS;Klesse, LJ;Parada, LF
1 型神经纤维瘤病 (NF1) 是一种常染色体显性遗传疾病，其特征是神经嵴起源的良性和恶性肿瘤的发病率增加。激活原癌基因 ras 的突变，例如 Nf1 的丢失，在恶性转化过程中与 p53 肿瘤抑制基因的失活突变协同作用。 100% 的顺式 Nf1 和 p53 等位基因无效的小鼠协同作用，在 3 至 7 个月大时发展为软组织肉瘤。这些肉瘤在两个基因位点均表现出杂合性缺失，并表达神经嵴衍生物和人类 NF1 恶性肿瘤的表型特征。
Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder characterized by increased incidence of benign and malignant tumors of neural crest origin. Mutations that activate the protooncogene ras, such as Loss of Nf1, cooperate with inactivating mutations at the p53 tumor suppressor gene during malignant transformation, One hundred percent of mice harboring null Nf1 and p53 alleles in cis synergize to develop soft tissue sarcomas between 3 and 7 months of age. These sarcomas exhibit Loss of heterozygosity at both gene loci and express phenotypic traits characteristic of neural crest derivatives and human NF1 malignancies.