Dosage effect of multiple genes accounts for multisystem disorder of myotonic dystrophy type 1
文献类型:期刊论文
作者 | Yin, Qi10; Li, Na10; Ding, Yifu10; Xie, Zhenfei10; Jin, Lifang10; Li, Qing10; Ma, Yongjian10; Cheng, Yanbo10; Wang, Kai10; Zhong, Cuiqing10 |
刊名 | CELL RESEARCH |
出版日期 | 2020 |
卷号 | 30期号:2页码:133-145 |
ISSN号 | 1001-0602 |
关键词 | TRIPLET REPEAT EXPANSION 3 UNTRANSLATED REGION CTG REPEAT SATELLITE CELLS MESSENGER-RNA MYOGENIC DIFFERENTIATION TRINUCLEOTIDE REPEAT CHROMATIN-STRUCTURE REDUCES EXPRESSION MODIFIED MICE |
DOI | 10.1038/s41422-019-0264-2 |
文献子类 | Article |
英文摘要 | 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 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, the quadruple heterozygous mutant mice recapitulate many major manifestations in congenital DM1. Moreover, muscle stem cells in both models display reduced stemness, providing a unique model for screening small molecules for treatment of DM1. Our results suggest that the complex symptoms of DM1 result from the reduced dosage of multiple genes. |
学科主题 | Cell Biology |
语种 | 英语 |
WOS记录号 | WOS:000510783300006 |
版本 | 出版稿 |
源URL | [http://202.127.25.143/handle/331003/3568] |
专题 | 生化所2019-2020年发文 |
作者单位 | 1.Shanghai Tech Univ, Sch Life Sci & Technol, Shanghai 201210, Peoples R China, 2.Chinese Acad Sci, Inst Stem Cell & Regenerat, Beijing 100101, Peoples R China; 3.Fudan Univ, Zhongshan Hosp, State Key Lab Genet Engn, Human Phenome Inst,Inst Biomed Sci,Sch Life Sci, Shanghai 200032, Peoples R China; 4.Univ Chinese Acad Sci, Chinese Acad Sci, Shanghai Inst Biochem & Cell Biol, Anim Core Facil,CAS Ctr Excellence Mol Cell Sci, Shanghai 200031, Peoples R China; 5.Fujian Med Univ, Affiliated Hosp 1, Inst Neurol, Fuzhou 350005, Fujian, Peoples R China; 6.Fujian Med Univ, Affiliated Hosp 1, Dept Neurol, Fuzhou 350005, Fujian, Peoples R China; 7.Shaoxing Univ, Coll Life Sci, Shaoxing 312000, Zhejiang, Peoples R China; 8.Shanghai Univ Med & Hlth Sci, Affiliated Jiading Dist Cent Hosp, Sch Med Technol, Shanghai Key Lab Mol Imaging, Shanghai 201318, Peoples R China; 9.Univ Chinese Acad Sci, Chinese Acad Sci, Shanghai Inst Biochem & Cell Biol, State Key Lab Cell Biol,CAS Ctr Excellence Mol Ce, Shanghai 200031, Peoples R China; 10.Univ Chinese Acad Sci, Chinese Acad Sci, CAS Ctr Excellence Mol Cell Sci,Shanghai Inst Bio, State Key Lab Cell Biol,Shanghai Key Lab Mol Andr, Shanghai 200031, Peoples R China; |
推荐引用方式 GB/T 7714 | Yin, Qi,Li, Na,Ding, Yifu,et al. Dosage effect of multiple genes accounts for multisystem disorder of myotonic dystrophy type 1[J]. CELL RESEARCH,2020,30(2):133-145. |
APA | Yin, Qi.,Li, Na.,Ding, Yifu.,Xie, Zhenfei.,Jin, Lifang.,...&,.(2020).Dosage effect of multiple genes accounts for multisystem disorder of myotonic dystrophy type 1.CELL RESEARCH,30(2),133-145. |
MLA | Yin, Qi,et al."Dosage effect of multiple genes accounts for multisystem disorder of myotonic dystrophy type 1".CELL RESEARCH 30.2(2020):133-145. |
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