Nesprins (nuclear envelope spectrin repeat proteins) are a family of multi-isomeric scaffolding proteins. Nesprins form the LInker of Nucleoskeleton-and-Cytoskeleton (LINC) complex with SUN (Sad1p/UNC84) domain-containing proteins at the nuclear envelope, in association with lamin A/C and emerin, linking the nucleoskeleton to the cytoskeleton. The LINC complex serves as both a physical linker between the nuclear lamina and the cytoskeleton and a mechanosensor. The LINC complex has a broad range of functions and is involved in maintaining nuclear architecture, nuclear positioning and migration, and also modulating gene expression. Over 80 disease-related variants have been identified in SYNE-1/2 (nesprin-1/2) genes, which result in muscular or central nervous system disorders including autosomal dominant Emery–Dreifuss muscular dystrophy, dilated cardiomyopathy and autosomal recessive cerebellar ataxia type 1. To date, 17 different nesprin mouse lines have been established to mimic these nesprin-related human diseases, which have provided valuable insights into the roles of nesprin and its scaffold LINC complex in a tissue-specific manner. In this review, we summarise the existing nesprin mouse models, compare their phenotypes and discuss the potential mechanisms underlying nesprin-associated diseases.
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June 2018
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The structure of a Nucleosome, in which DNA is wrapped around a histone core. In this issue of Biochemical Society Transactions, Taniguchi et al. review recent advances in exploring Nucleosome-level 3D organization of the genome; for details see pages 491–501.
Review Article|
May 21 2018
Mouse models of nesprin-related diseases
Can Zhou;
Can Zhou
1Department of Cardiology, West China Hospital of Sichuan University, Chengdu 610041, China
2King's College London British Heart Foundation Centre of Research Excellence, Cardiovascular Division, London SE5 9NU, U.K.
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Li Rao;
Li Rao
1Department of Cardiology, West China Hospital of Sichuan University, Chengdu 610041, China
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Derek T. Warren;
Derek T. Warren
3School of Pharmacy, University of East Anglia, Norwich NR4 7TJ, U.K.
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Catherine M. Shanahan;
Catherine M. Shanahan
2King's College London British Heart Foundation Centre of Research Excellence, Cardiovascular Division, London SE5 9NU, U.K.
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Qiuping Zhang
2King's College London British Heart Foundation Centre of Research Excellence, Cardiovascular Division, London SE5 9NU, U.K.
Correspondence: Qiuping Zhang (qp.zhang@kcl.ac.uk)
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Biochem Soc Trans (2018) 46 (3): 669–681.
Article history
Received:
February 06 2018
Revision Received:
April 05 2018
Accepted:
April 20 2018
Citation
Can Zhou, Li Rao, Derek T. Warren, Catherine M. Shanahan, Qiuping Zhang; Mouse models of nesprin-related diseases. Biochem Soc Trans 19 June 2018; 46 (3): 669–681. doi: https://doi.org/10.1042/BST20180085
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