Rxivist logo

Rxivist combines preprints from bioRxiv with data from Twitter to help you find the papers being discussed in your field. Currently indexing 57,773 bioRxiv papers from 265,845 authors.

Dosage effect of multiple genes accounts for multisystem disorder of myotonic dystrophy type 1

By Qi Yin, Hongye Wang, Zhenfei Xie, Lifan Jin, Yifu Ding, Na Li, Yan Li, Qiong Wang, Xinyi Liu, Kai Wang, Liuqing Xu, Yanbo Cheng, Boran Chang, Cuiqing Zhong, Qian Yu, Wei Tang, Wenjun Yang, Fan Zhang, Chen Ding, Lan Bao, Bin Zhou, Ping Hu, Jinsong Li

Posted 03 Jun 2019
bioRxiv DOI: 10.1101/658526

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 and its neighboring genes (Six5 or Dmwd) and downstream Mbnl1. However, the direct evidences are lack. Here, we develop a new strategy to generate mice carrying multigene mutations in one step by injection of haploid embryonic stem cells with mutant Dmpk, Six5 and Mbnl1 into oocytes. The triple heterozygous mutant mice exhibit adult-onset DM1 phenotypes. With the additional mutation in Dmwd, quadruple heterozygous mutant mice recapitulate many major manifestations in congenital DM1. Moreover, muscle stem cells in both models display reduced stemness. Our results suggest that the complex symptoms of DM1 result from the reduced gene dosage of multiple genes.

Download data

  • Downloaded 254 times
  • Download rankings, all-time:
    • Site-wide: 34,322 out of 57,773
    • In genetics: 2,165 out of 3,318
  • Year to date:
    • Site-wide: 10,860 out of 57,773
  • Since beginning of last month:
    • Site-wide: 30,226 out of 57,773

Altmetric data


Downloads over time

Distribution of downloads per paper, site-wide


Sign up for the Rxivist weekly newsletter! (Click here for more details.)


News