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5 ' UTR SNP of FGF13 causes translational defect and intellectual disability
Pan, Xingyu; Zhao, Jingrong; Zhou, Zhiying; Chen, Jijun; Yang, Zhenxing; Wu, Yuxuan; Bai, Meizhu; Jiao, Yang; Yang, Yun; Hu, Xuye; Cheng, Tianling; Lu, Qianyun; Wang, Bin; Li, Chang-Lin; Lu, Ying-Jin; Diao, Lei; Zhong, Yan-Qing; Pan, Jing; Zhu, Jianmin; Xiao, Hua-Sheng; Qiu, Zi-Long; Li, Jinsong; Wang, Zefeng; Hui, Jingyi; Bao, Lan; Zhang, Xu
2021
Source PublicationELIFE
ISSN2050-084X
Volume10
AbstractThe congenital intellectual disability (ID)-causing gene mutations remain largely unclear, although many genetic variations might relate to ID. We screened gene mutations in Chinese Han children suffering from severe ID and found a single-nucleotide polymorphism (SNP) in the 5'-untranslated region (5'-UTR) of fibroblast growth factor 13 (FGF13) mRNA (NM_001139500.1:c.-32c>G) shared by three male children. In both HEK293 cells and patient-derived induced pluripotent stem cells, this SNP reduced the translation of FGF13, which stabilizes microtubules in developing neurons. Mice carrying the homologous point mutation in 5'-UTR of Fgf13 showed delayed neuronal migration during cortical development, and weakened learning and memory. Furthermore, this SNP reduced the interaction between FGF13 5'-UTR and polypyrimidine-tract-binding protein 2 (PTBP2), which was required for FGF13 translation in cortical neurons. Thus, this 5'-UTR SNP of FGF13 interferes with the translational process of FGF13 and causes deficits in brain development and cognitive functions.
Document Type期刊论文
Identifierhttp://ir.sari.ac.cn/handle/39PL6PPA/3438
Collection中国科学院上海高等研究院
Recommended Citation
GB/T 7714
Pan, Xingyu,Zhao, Jingrong,Zhou, Zhiying,et al. 5 ' UTR SNP of FGF13 causes translational defect and intellectual disability[J]. ELIFE,2021,10.
APA Pan, Xingyu.,Zhao, Jingrong.,Zhou, Zhiying.,Chen, Jijun.,Yang, Zhenxing.,...&Zhang, Xu.(2021).5 ' UTR SNP of FGF13 causes translational defect and intellectual disability.ELIFE,10.
MLA Pan, Xingyu,et al."5 ' UTR SNP of FGF13 causes translational defect and intellectual disability".ELIFE 10(2021).
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