Solin Staci L, Shive Heather R, Woolard Kevin D, Essner Jeffrey J, McGrail Maura
Department of Genetics, Development and Cell Biology, Iowa State University, Ames, IA 50011, USA.
Department of Population Health and Pathobiology, North Carolina State University, Raleigh, NC 27607, USA.
Sci Rep. 2015 Sep 8;5:13745. doi: 10.1038/srep13745.
Investigating the in vivo role of tumor suppressor genes in cancer is technically challenging due to their essential requirement during early animal development. To address this bottleneck, we generated genetic mosaic adult zebrafish using TALEN genome editing and demonstrate somatic inactivation of the tumor suppressor retinoblastoma1 (rb1) induces tumorigenesis at high frequency. 11-33% of 1-cell stage embryos injected with TALEN mRNAs targeting rb1 exon 2 or 3 develop tumors beginning as early as 3.5 months of age. Lesions predominantly arise in the brain and show features of neuroectodermal-like and glial-like tumors. Mutant allele analysis is consistent with tumor initiation due to somatic inactivation of rb1, revealing a conserved role for rb1 in tumor suppression across vertebrates. In contrast to genetic mosaics, heterozygous rb1-/+ adults show no evidence of neoplasia, while homozygous mutant rb1-/- are larval lethal. This is the first demonstration that somatic inactivation of a tumor suppressor causes cancer in zebrafish, and highlights the utility of site-specific nucleases to create genetic mosaic zebrafish for tumor suppressor gene discovery. Somatic inactivation with site-directed nucleases in zebrafish presents a rapid and scalable strategy to study tumor suppressor gene function in cancer.
由于肿瘤抑制基因在动物早期发育过程中的必需性,研究其在癌症中的体内作用在技术上具有挑战性。为了解决这一瓶颈,我们使用TALEN基因组编辑技术构建了基因镶嵌的成年斑马鱼,并证明肿瘤抑制基因视网膜母细胞瘤1(rb1)的体细胞失活会高频诱导肿瘤发生。注射靶向rb1外显子2或3的TALEN mRNA的单细胞期胚胎中,11%-33%最早在3.5月龄时开始出现肿瘤。病变主要发生在大脑,表现出神经外胚层样和胶质样肿瘤的特征。突变等位基因分析与rb1体细胞失活导致肿瘤起始一致,揭示了rb1在整个脊椎动物肿瘤抑制中的保守作用。与基因镶嵌体不同,杂合子rb1-/+成年鱼没有肿瘤形成的迹象,而纯合突变体rb1-/-在幼体阶段致死。这是首次证明肿瘤抑制基因的体细胞失活会在斑马鱼中引发癌症,并突出了位点特异性核酸酶在创建用于肿瘤抑制基因发现的基因镶嵌斑马鱼方面的效用。在斑马鱼中使用位点定向核酸酶进行体细胞失活,为研究癌症中肿瘤抑制基因的功能提供了一种快速且可扩展的策略。