Article
Dosage effect of multiple genes accounts for multisystem disorder of myotonic dystrophy type 1.
Cell research - 1 Feb 2020
Yin Qi, Wang Hongye, Li Na, Ding Yifu, Xie Zhenfei, Jin Lifang, Li Yan, Wang Qiong, Liu Xinyi, Xu Liuqing, Li Qing, Ma Yongjian, Cheng Yanbo, Wang Kai, Zhong Cuiqing, Yu Qian, Tang Wei, Chen Wanjin, Yang Wenjun, Zhang Fan, Ding Chen, Bao Lan, Zhou Bin, Hu Ping, Li Jinsong
Abstract excerpt
Multisystem manifestations in myotonic dystrophy type 1 (DM1) may be due to dosage reduction in multiple genes induced by aberrant expansion of CTG repeats in DMPK, including DMPK, its neighboring genes (SIX5 or DMWD) and downstream MBNL1. However, direct evidence is lacking. Here, we develop a new strategy to generate mice carrying multigene heterozygous mutations to mimic dosage reduction in one step by...
Topics
- Animals
- Base Sequence
- Cell Differentiation
- Cloning, Organism
- DNA-Binding Proteins
- Gene Dosage
- Heterozygote
- Homeodomain Proteins
- Humans
- Mice, Knockout