Nesprins LINC the nucleus and cytoskeleton

Mellad, Jason A.; Warren, Derek; Shanahan, Catherine M.

doi:10.1016/j.ceb.2010.11.006

Cited by 135 publications

(113 citation statements)

References 48 publications

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“…34,35 The SNP rs1152591 is located on chromosome 14q23, in an intron of the gene SYNE2 encoding nesprin 2, which is a linker of nucleoskeleton and cytoskeleton (LINC) protein involved in maintaining cellular architecture and nuclear integrity. 36 It is highly expressed in heart and skeletal muscle, and mutations in SYNE2 have been identified in families with Emery-Dreifuss muscular dystrophy. A disease that also displays cardiac manifestations characterized by cardiomyopathy and cardiac conduction defects.…”

Section: The 4q25 Locusmentioning

confidence: 99%

Atrial fibrillation: the role of common and rare genetic variants

Olesen

Nielsen

Haunsø³

et al. 2013

Eur J Hum Genet

102

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Atrial fibrillation (AF) is the most common cardiac arrhythmia affecting 1-2% of the general population. A number of studies have demonstrated that AF, and in particular lone AF, has a substantial genetic component. Monogenic mutations in lone and familial AF, although rare, have been recognized for many years. Presently, mutations in 25 genes have been associated with AF. However, the complexity of monogenic AF is illustrated by the recent finding that both gain-and loss-of-function mutations in the same gene can cause AF. Genome-wide association studies (GWAS) have indicated that common single-nucleotide polymorphisms (SNPs) have a role in the development of AF. Following the first GWAS discovering the association between PITX2 and AF, several new GWAS reports have identified SNPs associated with susceptibility of AF. To date, nine SNPs have been associated with AF. The exact biological pathways involving these SNPs and the development of AF are now starting to be elucidated. Since the first GWAS, the number of papers concerning the genetic basis of AF has increased drastically and the majority of these papers are for the first time included in a review. In this review, we discuss the genetic basis of AF and the role of both common and rare genetic variants in the susceptibility of developing AF. Furthermore, all rare variants reported to be associated with AF were systematically searched for in the Exome Sequencing Project Exome Variant Server.

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Section: The 4q25 Locusmentioning

confidence: 99%

Atrial fibrillation: the role of common and rare genetic variants

Olesen

Nielsen

Haunsø³

et al. 2013

Eur J Hum Genet

102

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“…Nesprin-1 and nuance are members of the nesprins protein family. They help position intracellular organelles by tethering them with the outer nuclear membrane and the actin cytoskeleton, and have an important role in forming and maintaining nuclear structures (Kandert et al 2007;Mellad et al 2011). Under arsenate exposure, the expression changes of alpha-tubulin, nesprin-1, and nuance could be indicative of a structural reorganization, resulting in the significant morphological changes observed (Fig.…”

Section: Proteomic Responses To Arsenate Exposurementioning

confidence: 95%

Arsenate toxicity and stress responses in the freshwater ciliate Tetrahymena pyriformis

Zhang

Yang

Yin

et al. 2012

European Journal of Protistology

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“…The NE is an extension of the endomembrane system that interacts with the cytoskeleton, especially the microtubule network. The nucleus also closely interacts with the microtubule through the so-called LINC (linker of the nucleoskeleton and cytoskeleton) complex that contains Nesprins and SUN proteins [22]. The NE is a highly dynamic structure that reversibly disassembles and reforms during cell cycle.…”

Section: Discussionmentioning

confidence: 99%

Caspase-mediated cleavage of C53/LZAP protein causes abnormal microtubule bundling and rupture of the nuclear envelope

Jiang

Luo

et al. 2013

Cell Res

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Apoptotic nucleus undergoes distinct morphological and biochemical changes including nuclear shrinkage, chromatin condensation and DNA fragmentation, which are attributed to caspase-mediated cleavage of several nuclear substrates such as lamins. As most of active caspases reside in the cytoplasm, disruption of the nuclear-cytoplasmic barrier is essential for caspases to reach their nuclear targets. The prevailing proposed mechanism is that the increase in the permeability of nuclear pores induced by caspases allows the caspases and other apoptotic factors to diffuse into the nucleus, thereby resulting in the nuclear destruction. Here, we report a novel observation that physical rupture of the nuclear envelope (NE) occurs in the early stage of apoptosis. We found that the NE rupture was caused by caspase-mediated cleavage of C53/LZAP, a protein that has been implicated in various signaling pathways, including NF-κB signaling and DNA damage response, as well as tumorigenesis and metastasis. We also demonstrated that C53/LZAP bound indirectly to the microtubule (MT), and expression of the C53/LZAP cleavage product caused abnormal MT bundling and NE rupture. Taken together, our findings suggest a novel role of C53/LZAP in the regulation of MT dynamics and NE structure during apoptotic cell death. Our study may provide an additional mechanism for disruption of the nuclear-cytoplasmic barrier during apoptosis.

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Nesprins LINC the nucleus and cytoskeleton

Cited by 135 publications

References 48 publications

Atrial fibrillation: the role of common and rare genetic variants

Atrial fibrillation: the role of common and rare genetic variants

Arsenate toxicity and stress responses in the freshwater ciliate Tetrahymena pyriformis

Caspase-mediated cleavage of C53/LZAP protein causes abnormal microtubule bundling and rupture of the nuclear envelope

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