孟安明等:利用ENU诱变建立突变猪模型
创作:aluba 审核:aluba 2018年04月08日
  • N-乙基-N-亚硝基脲(ENU)诱变可用于在果蝇、斑马鱼、小鼠的全基因组水平上发现具有新功能的基因,但缺乏大型模式动物上的应用;
  • 通过系统性的3代ENU诱变,建立了具有不同形状的36个显性突变及91个隐性突变的猪模型;
  • 例如,SOX10基因的R109W突变可造成猪的内耳功能障碍,可模拟人类的蒙底尼畸形,而FBXO32的表达上调与先天性八字腿相关;
  • 利用ENU诱变产生的猪模型可促进农业生产及生物医药的研究。
#魏泓教授团队研究成果集#
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清华大学孟安明、中科院动物所周琪、赵建国、王红梅、陆军军医大学(第三军医大学)魏泓、中科院生物物理所刘志华、301医院杨仕明共同主导的研究,首次在猪这种大型模式动物中,使用ENU诱变大规模获得突变体,为后续猪模型研究打下了基础。
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eLife [IF:8.14]

Pilot study of large-scale production of mutant pigs by ENU mutagenesis

利用ENU诱变大规模产生突变猪的初步研究

10.7554/eLife.26248

2017-06-22, Article

Abstract & Authors:展开

Abstract:收起
N-ethyl-N-nitrosourea (ENU) mutagenesis is a powerful tool to generate mutants on a large scale efficiently, and to discover genes with novel functions at the whole-genome level inflies, zebrafish and mice, but it has never been tried in large model animals. We describe a successful systematic three-generation ENU mutagenesis screening in pigs with the establishment of the Chinese Swine Mutagenesis Consortium. A total of 6,770 G1 and 6,800 G3 pigs were screened, 36 dominant and 91 recessive novel pig families with various phenotypes were established. The causative mutations in 10 mutant families were further mapped. As examples, the mutation of(R109W) in pig causes inner ear malfunctions and mimics human Mondini dysplasia, and upregulated expression ofis associated with congenital splay legs. This study demonstrates the feasibility of artificial random mutagenesis in pigs and opens an avenue for generating a reservoir of mutants for agricultural production and biomedical research.

First Authors:
Tang Hai,Chunwei Cao,Haitao Shang,Weiwei Guo,Yanshuang Mu

Correspondence Authors:
Hongmei Wang,Shiming Yang,Zhonghua Liu,Hong Wei,Jianguo Zhao,Qi Zhou,Anming Meng

All Authors:
Tang Hai,Chunwei Cao,Haitao Shang,Weiwei Guo,Yanshuang Mu,Shulin Yang,Ying Zhang,Qiantao Zheng,Tao Zhang,Xianlong Wang,Yu Liu,Qingran Kong,Kui Li,Dayu Wang,Meng Qi,Qianlong Hong,Rui Zhang,Xiupeng Wang,Qitao Jia,Xiao Wang,Guosong Qin,Yongshun Li,Ailing Luo,Weiwu Jin,Jing Yao,Jiaojiao Huang,Hongyong Zhang,Menghua Li,Xiangmo Xie,Xuejuan Zheng,Kenan Guo,Qinghua Wang,Shibin Zhang,Liang Li,Fei Xie,Yu Zhang,Xiaogang Weng,Zhi Yin,Kui Hu,Yimei Cong,Peng Zheng,Hailong Zou,Leilei Xin,Jihan Xia,Jinxue Ruan,Hegang Li,Weiming Zhao,Jing Yuan,Zizhan Liu,Weiwang Gu,Ming Li,Yong Wang,Hongmei Wang,Shiming Yang,Zhonghua Liu,Hong Wei,Jianguo Zhao,Qi Zhou,Anming Meng

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