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A Bama miniature pig model of monoallelic TSC1 mutation for human tuberous sclerosis complex

Journal of Genetics and Genomics 2020年第12期47卷 735-742页

作者： Xiaoxue Li Tingdong Hu Jiying Liu Bin Fang Xue Geng Qiang Xiong Lining Zhang Yong Jin Xiaorui Liu Lin Li Ying Wang Rongfeng Li Xiaochun Bai Haiyuan Yang Yifan Dai Jiangsu Key Laboratory of Xenotransplantation Nanjing Medical UniversityNanjing 211166China Key Laboratory of Targeted Intervention of Cardiovascular Disease Collaborative Innovation Center for Cardiovascular Disease Translational MedicineNanjing Medical UniversityNanjing 211166China Department of Cell Biology Guangdong Provincial Key Laboratory of Bone and Joint Degenerative DiseasesSchool of Basic Medical SciencesSouthern Medical UniversityGuangzhou 510515China State Key Laboratory of Reproductive Medicine Nanjing Medical UniversityNanjing 211166China Shenzhen Xenotransplantation Medical Engineering Research and Development Center Institute of Translational MedicineShenzhen Second People's HospitalFirst Affiliated Hospital of Shenzhen UniversityShenzhen 518035China

Tuberous sclerosis complex(TSC)is a dominant genetic neurocutaneous syndrome characterized by multiple organ *** rodent models bearing a germline mutation in either TSC1 or TSC2 gene have been generated,they do not develop pathogenic lesions matching those seen in patients with TSC because of the significant differences between mice and humans,highlighting the need for an improved large animal model of ***,we successfully generate monoallelic TSC1-modified Bama miniature pigs using the CRISPR/Cas9 system along with somatic cell nuclear transfer(SCNT)*** expression of phosphorylated target ribosomal protein S6 is significantly enhanced in the piglets,indicating that disruption of a TSC1 allele activate the mechanistic target of rapamycin(mTOR)signaling ***,differing from the mouse TSC models reported previously,the TSC1^(+/−)Bama miniature pig developed cardiac rhabdomyoma and subependymal nodules,resembling the major clinical features that occur in patients with *** TSC1^(+/−)Bama miniature pigs could serve as valuable large animal models for further elucidation of the pathogenesis of TSC and the development of therapeutic strategies for TSC disease.

关键词： CRISPR/Cas9 Cardiac rhabdomyosarcoma subependymal nodules TSC1 Tuberous sclerosis complex

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