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Nuclear lamin

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https://www.readbyqxmd.com/read/28931598/coordinated-increase-of-nuclear-tension-and-lamin-a-with-matrix-stiffness-out-competes-lamin-b-receptor-which-favors-soft-tissue-phenotypes
#1
Amnon Buxboim, Jerome Irianto, Joe Swift, Avathamsa Athirasala, Jae-Won Shin, Florian Rehfeldt, Dennis E Discher
Matrix stiffness that is sensed by a cell or measured by a purely physical probe reflects the intrinsic elasticity of the matrix and also how thick or thin the matrix is. Here, mesenchymal stem cells (MSCs) and their nuclei spread in response to thickness-corrected matrix micro-elasticity, with increases in nuclear tension and nuclear stiffness resulting from increases in myosin-II and lamin-A,C. Linearity between the widely varying projected area of a cell and its nucleus across many matrices, timescales, and myosin-II activity levels indicates a constant ratio of nucleus-to-cell volume, despite the differentiation potential of MSCs...
September 20, 2017: Molecular Biology of the Cell
https://www.readbyqxmd.com/read/28919399/a-numerical-model-suggests-the-interplay-between-nuclear-plasticity-and-stiffness-during-a-perfusion-assay
#2
Solenne Deveraux, Rachele Allena, Denis Aubry
Cell deformability is a necessary condition for a cell to be able to migrate, an ability that is vital both for healthy and diseased organisms. The nucleus being the largest and stiffest organelle, it often is a barrier to cell migration. It is thus essential to characterize its mechanical behaviour. First, we numerically investigate the visco-elasto-plastic properties of the isolated nucleus during a compression test. This simulation highlights the impact of the mechanical behaviour of the nuclear lamina and the nucleoplasm on the overall plasticity...
September 14, 2017: Journal of Theoretical Biology
https://www.readbyqxmd.com/read/28913408/hepatocyte-specific-deletion-of-mouse-lamin-a-c-leads-to-male-selective-steatohepatitis
#3
Raymond Kwan, Graham F Brady, Maria Brzozowski, Sujith V Weerasinghe, Hope Martin, Min-Jung Park, Makayla J Brunt, Ram K Menon, Xin Tong, Lei Yin, Colin L Stewart, M Bishr Omary
BACKGROUND & AIMS: Lamins are nuclear intermediate filament proteins that comprise the major components of the nuclear lamina. Mutations in LMNA, which encodes lamins A/C, cause laminopathies, including lipodystrophy, cardiomyopathy, and premature aging syndromes. However, the role of lamins in the liver is unknown, and it is unclear whether laminopathy-associated liver disease is caused by primary hepatocyte defects or systemic alterations. METHODS: To address these questions, we generated mice carrying a hepatocyte-specific deletion of Lmna (knockout [KO] mice) and characterized the KO liver and primary hepatocyte phenotypes by immunoblotting, immunohistochemistry, microarray analysis, quantitative real-time polymerase chain reaction, and Oil Red O and Picrosirius red staining...
November 2017: Cellular and Molecular Gastroenterology and Hepatology
https://www.readbyqxmd.com/read/28902428/nuclear-lamina-genetic-variants-including-a-truncated-lap2-in-twins-and-siblings-with-nonalcoholic-fatty-liver-disease
#4
Graham F Brady, Raymond Kwan, Peter J Ulintz, Phirum Nguyen, Shirin Bassirian, Venkatesha Basrur, Alexey I Nesvizhskii, Rohit Loomba, M Bishr Omary
Nonalcoholic fatty liver disease (NAFLD) is becoming the major chronic liver disease in many countries. Its pathogenesis is multifactorial but twin and familial studies indicate significant heritability, which is not fully explained by currently-known genetic susceptibility loci. Notably, mutations in genes encoding nuclear lamina proteins, including lamins, cause lipodystrophy syndromes that include NAFLD. We hypothesized that variants in lamina-associated proteins predispose to NAFLD and used a candidate gene-sequencing approach to test for variants in 10 nuclear lamina-related genes in a cohort of 37 twin and sibling pairs: 21 individuals with, and 53 without, NAFLD...
September 13, 2017: Hepatology: Official Journal of the American Association for the Study of Liver Diseases
https://www.readbyqxmd.com/read/28901826/nuclear-networking
#5
Wei Xie, Brian Burke
Nuclear lamins are intermediate filament proteins that represent important structural components of metazoan nuclear envelopes (NEs). By combining proteomics and superresolution microscopy, we recently reported that both A- and B-type nuclear lamins form spatially distinct filament networks at the nuclear periphery of mouse fibroblasts. In particular, A-type lamins exhibit differential association with nuclear pore complexes (NPCs). Our studies reveal that the nuclear lamina network in mammalian somatic cells is less ordered and more complex than that of amphibian oocytes, the only other system in which the lamina has been visualized at high resolution...
July 4, 2017: Nucleus
https://www.readbyqxmd.com/read/28900009/on-the-origin-of-shape-fluctuations-of-the-cell-nucleus
#6
Fang-Yi Chu, Shannon C Haley, Alexandra Zidovska
The nuclear envelope (NE) presents a physical boundary between the cytoplasm and the nucleoplasm, sandwiched in between two highly active systems inside the cell: cytoskeleton and chromatin. NE defines the shape and size of the cell nucleus, which increases during the cell cycle, accommodating for chromosome decondensation followed by genome duplication. In this work, we study nuclear shape fluctuations at short time scales of seconds in human cells. Using spinning disk confocal microscopy, we observe fast fluctuations of the NE, visualized by fluorescently labeled lamin A, and of the chromatin globule surface (CGS) underneath the NE, visualized by fluorescently labeled histone H2B...
September 12, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28893461/nuclear-lamins-thin-filaments-with-major-functions
#7
REVIEW
Rebecca de Leeuw, Yosef Gruenbaum, Ohad Medalia
The nuclear lamina is a nuclear peripheral meshwork that is mainly composed of nuclear lamins, although a small fraction of lamins also localizes throughout the nucleoplasm. Lamins are classified as type V intermediate filament (IF) proteins. Mutations in lamin genes cause at least 15 distinct human diseases, collectively termed laminopathies, including muscle, metabolic, and neuronal diseases, and can cause accelerated aging. Most of these mutations are in the LMNA gene encoding A-type lamins. A growing number of nuclear proteins are known to bind lamins and are implicated in both nuclear and cytoskeletal organization, mechanical stability, chromatin organization, signaling, gene regulation, genome stability, and cell differentiation...
September 8, 2017: Trends in Cell Biology
https://www.readbyqxmd.com/read/28892082/myofibril-contraction-and-crosslinking-drive-nuclear-movement-to-the-periphery-of-skeletal-muscle
#8
William Roman, João P Martins, Filomena A Carvalho, Raphael Voituriez, Jasmine V G Abella, Nuno C Santos, Bruno Cadot, Michael Way, Edgar R Gomes
Nuclear movements are important for multiple cellular functions, and are driven by polarized forces generated by motor proteins and the cytoskeleton. During skeletal myofibre formation or regeneration, nuclei move from the centre to the periphery of the myofibre for proper muscle function. Centrally located nuclei are also found in different muscle disorders. Using theoretical and experimental approaches, we demonstrate that nuclear movement to the periphery of myofibres is mediated by centripetal forces around the nucleus...
September 11, 2017: Nature Cell Biology
https://www.readbyqxmd.com/read/28882431/abnormal-retention-of-nuclear-lamina-and-disorganization-of-chromatin-related-proteins-in-spermatozoa-from-dpy19l2-deleted-globozoospermic-patients
#9
Marine Paci, Razan Elkhatib, Guy Longepied, Sylviane Hennebicq, Julien Bessonat, Blandine Courbière, Patrice Bourgeois, Nicolas Levy, Michael J Mitchell, Catherine Metzler-Guillemain
The aim of this study was to characterize the nuclear lamina (NL) and lamin chromatin-partners in spermatozoa from four DPY19L2-deleted globozoospermic patients. We tested for spermatid transcripts encoding lamins and their chromatin-partners emerin, LAP2α, BAF and BAF-L, by reverse transcriptase-PCR using spermatozoa RNA. We also determined the localization of lamin B1, BAF and BAF-L by immunofluorescent analysis of spermatozoa from all patients. In RNA from globozoospermic and control spermatozoa we detected transcripts encoding lamin B1, lamin B3, emerin, LAP2α and BAF-L, but not A-type lamins...
August 4, 2017: Reproductive Biomedicine Online
https://www.readbyqxmd.com/read/28880978/quantitative-assessment-of-microstructural-changes-of-the-retina-in-infants-with-congenital-zika-syndrome
#10
Tomas S Aleman, Camila V Ventura, Milena M Cavalcanti, Leona W Serrano, Anastasia Traband, Akosua A Nti, Adriana L Gois, Vasco Bravo-Filho, Thayze T Martins, Charles W Nichols, Mauricio Maia, Rubens Belfort
Importance: A better pathophysiologic understanding of the neurodevelopmental abnormalities observed in neonates exposed in utero to Zika virus (ZIKV) is needed to develop treatments. The retina as an extension of the diencephalon accessible to in vivo microcopy with spectral-domain optical coherence tomography (SD-OCT) can provide an insight into the pathophysiology of congenital Zika syndrome (CZS). Objective: To quantify the microstructural changes of the retina in CZS and compare these changes with those of cobalamin C (cblC) deficiency, a disease with potential retinal maldevelopment...
September 7, 2017: JAMA Ophthalmology
https://www.readbyqxmd.com/read/28877489/rupture-dynamics-and-chromatin-herniation-in%C3%A2-deformed-nuclei
#11
Dan Deviri, Dennis E Discher, Sam A Safran
During migration of cells in vivo, in both pathological processes such as cancer metastasis or physiological events such as immune cell migration through tissue, the cells must move through narrow interstitial spaces that can be smaller than the nucleus. This can induce deformation of the nucleus which, according to recent experiments, may result in rupture of the nuclear envelope that can lead to cell death, if not prevented or healed within an appropriate time. The nuclear envelope, which can be modeled as a double lipid bilayer attached to a viscoelastic gel (lamina) whose elasticity and viscosity primarily depend on the lamin composition, may utilize mechanically induced, self-healing mechanisms that allow the hole to be closed after the deformation-induced strains are reduced by leakage of the internal fluid...
September 5, 2017: Biophysical Journal
https://www.readbyqxmd.com/read/28874324/complex-phenotype-linked-to-a-mutation-in-exon-11-of-the-lamin-a-c-gene-hypertrophic-cardiomyopathy-atrioventricular-block-severe-dyslipidemia-and-diabetes
#12
Ana Rita G Francisco, Inês Santos Gonçalves, Fátima Veiga, Mónica Mendes Pedro, Fausto J Pinto, Dulce Brito
The lamin A/C (LMNA) gene encodes lamins A and C, which have an important role in nuclear cohesion and chromatin organization. Mutations in this gene usually lead to the so-called laminopathies, the primary cardiac manifestations of which are dilated cardiomyopathy and intracardiac conduction defects. Some mutations, associated with lipodystrophy but not cardiomyopathy, have been linked to metabolic abnormalities such as diabetes and severe dyslipidemia. Herein we describe a new phenotype associated with a mutation in exon 11 of the LMNA gene: hypertrophic cardiomyopathy, atrioventricular block, severe dyslipidemia and diabetes...
September 2, 2017: Portuguese Journal of Cardiology: An Official Journal of the Portuguese Society of Cardiology
https://www.readbyqxmd.com/read/28858257/lamin-b-receptor-interplay-between-structure-function-and-localization
#13
REVIEW
Eleni Nikolakaki, Ilias Mylonis, Thomas Giannakouros
Lamin B receptor (LBR) is an integral protein of the inner nuclear membrane, containing a hydrophilic N-terminal end protruding into the nucleoplasm, eight hydrophobic segments that span the membrane and a short, nucleoplasmic C-terminal tail. Two seemingly unrelated functions have been attributed to LBR. Its N-terminal domain tethers heterochromatin to the nuclear periphery, thus contributing to the shape of interphase nuclear architecture, while its transmembrane domains exhibit sterol reductase activity...
August 31, 2017: Cells
https://www.readbyqxmd.com/read/28857661/identification-of-novel-rna-isoforms-of-lmna
#14
Emily DeBoy, Madaiah Puttaraju, Parthav Jailwala, Manjula Kasoji, Maggie Cam, Tom Misteli
The nuclear lamina is a proteinaceous meshwork situated underneath the inner nuclear membrane and is composed of nuclear lamin proteins, which are type-V intermediate filaments. The LMNA gene gives rise to lamin A and lamin C through alternative splicing. Mutations in LMNA cause multiple diseases known as laminopathies, including Hutchinson-Gilford Progeria Syndrome (HGPS), a premature aging disorder caused by a point mutation that activates a cryptic 5' splice site in exon 11, resulting in a 150 bp deletion in the LMNA mRNA and the production of the dominant lamin A isoform progerin...
August 31, 2017: Nucleus
https://www.readbyqxmd.com/read/28855503/nucleolar-expansion-and-elevated-protein-translation-in-premature-aging
#15
Abigail Buchwalter, Martin W Hetzer
Premature aging disorders provide an opportunity to study the mechanisms that drive aging. In Hutchinson-Gilford progeria syndrome (HGPS), a mutant form of the nuclear scaffold protein lamin A distorts nuclei and sequesters nuclear proteins. We sought to investigate protein homeostasis in this disease. Here, we report a widespread increase in protein turnover in HGPS-derived cells compared to normal cells. We determine that global protein synthesis is elevated as a consequence of activated nucleoli and enhanced ribosome biogenesis in HGPS-derived fibroblasts...
August 30, 2017: Nature Communications
https://www.readbyqxmd.com/read/28854936/nuclear-envelopathies-a-complex-linc-between-nuclear-envelope-and-pathology
#16
REVIEW
Alexandre Janin, Delphine Bauer, Francesca Ratti, Gilles Millat, Alexandre Méjat
Since the identification of the first disease causing mutation in the gene coding for emerin, a transmembrane protein of the inner nuclear membrane, hundreds of mutations and variants have been found in genes encoding for nuclear envelope components. These proteins can be part of the inner nuclear membrane (INM), such as emerin or SUN proteins, outer nuclear membrane (ONM), such as Nesprins, or the nuclear lamina, such as lamins A and C. However, they physically interact with each other to insure the nuclear envelope integrity and mediate the interactions of the nuclear envelope with both the genome, on the inner side, and the cytoskeleton, on the outer side...
August 30, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28854361/aberrant-compartment-formation-by-hspb2-mislocalizes-lamin-a-and-compromises-nuclear-integrity-and-function
#17
Federica F Morelli, Dineke S Verbeek, Jessika Bertacchini, Jonathan Vinet, Laura Mediani, Sandra Marmiroli, Giovanna Cenacchi, Milena Nasi, Sara De Biasi, Jeanette F Brunsting, Jan Lammerding, Elena Pegoraro, Corrado Angelini, Rossella Tupler, Simon Alberti, Serena Carra
Small heat shock proteins (HSPBs) contain intrinsically disordered regions (IDRs), but the functions of these IDRs are still unknown. Here, we report that, in mammalian cells, HSPB2 phase separates to form nuclear compartments with liquid-like properties. We show that phase separation requires the disordered C-terminal domain of HSPB2. We further demonstrate that, in differentiating myoblasts, nuclear HSPB2 compartments sequester lamin A. Increasing the nuclear concentration of HSPB2 causes the formation of aberrant nuclear compartments that mislocalize lamin A and chromatin, with detrimental consequences for nuclear function and integrity...
August 29, 2017: Cell Reports
https://www.readbyqxmd.com/read/28844980/dcm-associated-lmna-mutations-cause-distortions-in-lamina-structure-and-assembly
#18
Pritha Bhattacharjee, Dipak Dasgupta, Kaushik Sengupta
BACKGROUND: A and B-type lamins are integral scaffolding components of the nuclear lamina which impart rigidity and shape to all metazoan nuclei. Over 450 mutations in A-type lamins are associated with 16 human diseases including dilated cardiomyopathy (DCM). Here, we show that DCM mutants perturb the self-association of lamin A (LA) and it's binding with lamin B1 (LB1). METHODS: We used confocal and superresolution microscopy (NSIM) to study the effect of LA mutants on the nuclear lamina...
August 24, 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/28814507/systematic-gene-tagging-using-crispr-cas9-in-human-stem-cells-to-illuminate-cell-organization
#19
Brock Roberts, Amanda Haupt, Andrew Tucker, Tanya Grancharova, Joy Arakaki, Margaret A Fuqua, Angelique Nelson, Caroline Hookway, Susan A Ludmann, Irina A Mueller, Ruian Yang, Alan R Horwitz, Susanne M Rafelski, Ruwanthi N Gunawardane
We present a CRISPR/Cas9 genome editing strategy to systematically tag endogenous proteins with fluorescent tags in human induced pluripotent stem cells. To date we have generated multiple human iPSC lines with monoallelic GFP tags labeling 10 proteins representing major cellular structures. The tagged proteins include alpha tubulin, beta actin, desmoplakin, fibrillarin, nuclear lamin B1, non-muscle myosin heavy chain IIB, paxillin, Sec61 beta, tight junction protein ZO1, and Tom20. Our genome editing methodology using Cas9/crRNA ribonuclear protein and donor plasmid co-electroporation, followed by fluorescence-based enrichment of edited cells, typically resulted in <0...
August 16, 2017: Molecular Biology of the Cell
https://www.readbyqxmd.com/read/28811655/a-tissue-engineered-blood-vessel-model-of-hutchinson-gilford-progeria-syndrome-using-human-ipsc-derived-smooth-muscle-cells
#20
Leigh Atchison, Haoyue Zhang, Kan Cao, George A Truskey
Hutchison-Gilford Progeria Syndrome (HGPS) is a rare, accelerated aging disorder caused by nuclear accumulation of progerin, an altered form of the Lamin A gene. The primary cause of death is cardiovascular disease at about 14 years. Loss and dysfunction of smooth muscle cells (SMCs) in the vasculature may cause defects associated with HGPS. Due to limitations of 2D cell culture and mouse models, there is a need to develop improved models to discover novel therapeutics. To address this need, we produced a functional three-dimensional model of HGPS that replicates an arteriole-scale tissue engineered blood vessel (TEBV) using induced pluripotent stem cell (iPSC)-derived SMCs from an HGPS patient...
August 15, 2017: Scientific Reports
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