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Lamin associated domain

Julien Douet, David Corujo, Roberto Malinverni, Justine Renauld, Viola Sansoni, Melanija Posavec Marjanović, Neus Cantari'o, Vanesa Valero, Fabien Mongelard, Philippe Bouvet, Axel Imhof, Marc Thiry, Marcus Buschbeck
Genetic loss-of-function studies in development, cancer and somatic cell reprogramming have suggested that the group of macroH2A histone variants might function through stabilizing the differentiated state by a yet unknown mechanism. Here, we present results demonstrating that macroH2A variants have a major function in maintaining nuclear organization and heterochromatin architecture. Specifically, we find that a substantial amount of macroH2A is associated with heterochromatic repeat sequences. We further identify macroH2A on sites of interstitial heterochromatin decorated by H3K9me3...
March 10, 2017: Journal of Cell Science
Laura Vandervore, Katrien Stouffs, Ibrahim Tanyalçin, Tim Vanderhasselt, Filip Roelens, Muriel Holder-Espinasse, Agnete Jørgensen, Melanie G Pepin, Florence Petit, Philippe Khau Van Kien, Nadia Bahi-Buisson, Willy Lissens, Alexander Gheldof, Peter H Byers, Anna C Jansen
BACKGROUND: Collagens are one of the major constituents of the pial membrane, which plays a crucial role in neuronal migration and cortical lamination during brain development. Type III procollagen, the chains of which are encoded by COL3A1, is the ligand of the G protein-coupled receptor 56 (GPR56), also known as adhesion G protein-coupled receptor G1. Bi-allelic mutations in GPR56 give rise to cobblestone-like malformation, white matter changes and cerebellar dysplasia. This report shows that bi-allelic mutations in COL3A1 are associated with a similar phenotype...
March 3, 2017: Journal of Medical Genetics
Yina Zhu, Ke Gong, Matthew Denholtz, Vivek Chandra, Mark P Kamps, Frank Alber, Cornelis Murre
Neutrophils are responsible for the first line of defense against invading pathogens. Their nuclei are uniquely structured as multiple lobes that establish a highly constrained nuclear environment. Here we found that neutrophil differentiation was not associated with large-scale changes in the number and sizes of topologically associating domains (TADs). However, neutrophil genomes were enriched for long-range genomic interactions that spanned multiple TADs. Population-based simulation of spherical and toroid genomes revealed declining radii of gyration for neutrophil chromosomes...
January 15, 2017: Genes & Development
Jonas Paulsen, Monika Sekelja, Anja R Oldenburg, Alice Barateau, Nolwenn Briand, Erwan Delbarre, Akshay Shah, Anita L Sørensen, Corinne Vigouroux, Brigitte Buendia, Philippe Collas
Current three-dimensional (3D) genome modeling platforms are limited by their inability to account for radial placement of loci in the nucleus. We present Chrom3D, a user-friendly whole-genome 3D computational modeling framework that simulates positions of topologically-associated domains (TADs) relative to each other and to the nuclear periphery. Chrom3D integrates chromosome conformation capture (Hi-C) and lamin-associated domain (LAD) datasets to generate structure ensembles that recapitulate radial distributions of TADs detected in single cells...
January 30, 2017: Genome Biology
Seungshin Ha, Prem P Tripathi, Anca B Mihalas, Robert F Hevner, David R Beier
We discovered a hypomorphic reelin (Reln) mutant with abnormal cortical lamination and no cerebellar hypoplasia. This mutant, Reln(CTRdel), carries a chemically induced splice-site mutation that truncates the C-terminal region (CTR) domain of RELN protein and displays remarkably distinct phenotypes from reeler The mutant does not have an inverted cortex, but cortical neurons overmigrate and invade the marginal zone, which are characteristics similar to a phenotype seen in the cerebral cortex of Vldlr(null) mice...
January 25, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
Seungshin Ha, Prem P Tripathi, Anca B Mihalas, Robert F Hevner, David R Beier
We discovered a hypomorphic reelin (Reln) mutant with abnormal cortical lamination and no cerebellar hypoplasia. This mutant, Reln (CTRdel), carries a chemically-induced splice-site mutation that truncates the C-terminal region (CTR) domain of RELN protein and displays remarkably distinct phenotypes from reeler The mutant does not have an inverted cortex, but cortical neurons overmigrate and invade the marginal zone, which is similar to a phenotype seen in the cerebral cortex of Vldlr (null) mice. The dentate gyrus shows a novel phenotype; the infrapyramidal blade is absent, while the suprapyramidal blade is present and laminated...
December 16, 2016: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
Nataliya Di Donato, Ying Y Jean, A Murat Maga, Briana D Krewson, Alison B Shupp, Maria I Avrutsky, Achira Roy, Sarah Collins, Carissa Olds, Rebecca A Willert, Agnieszka M Czaja, Rachel Johnson, Jessi A Stover, Steven Gottlieb, Deborah Bartholdi, Anita Rauch, Amy Goldstein, Victoria Boyd-Kyle, Kimberly A Aldinger, Ghayda M Mirzaa, Anke Nissen, Karlla W Brigatti, Erik G Puffenberger, Kathleen J Millen, Kevin A Strauss, William B Dobyns, Carol M Troy, Robert N Jinks
Lissencephaly is a malformation of cortical development typically caused by deficient neuronal migration resulting in cortical thickening and reduced gyration. Here we describe a "thin" lissencephaly (TLIS) variant characterized by megalencephaly, frontal predominant pachygyria, intellectual disability, and seizures. Trio-based whole-exome sequencing and targeted re-sequencing identified recessive mutations of CRADD in six individuals with TLIS from four unrelated families of diverse ethnic backgrounds. CRADD (also known as RAIDD) is a death-domain-containing adaptor protein that oligomerizes with PIDD and caspase-2 to initiate apoptosis...
November 3, 2016: American Journal of Human Genetics
Catalina Ana Rosselló, Lisa Lindström, Johan Glindre, Greta Eklund, Maria Alvarado-Kristensson
The cytosolic role of γ-tubulin as a microtubule organizer has been studied thoroughly, but its nuclear function is poorly understood. Here, we show that γ-tubulin is located throughout the chromatin of demembranated Xenopus laevis sperm and, as the nucleus is formed, γ-tubulin recruits lamin B3 and nuclear membranes. Immunodepletion of γ-tubulin impairs X. laevis assembly of both the lamina and the nuclear membrane. During nuclear formation in mammalian cell lines, γ-tubulin establishes a cellular protein boundary around chromatin that coordinates nuclear assembly of the daughter nuclei...
September 2016: Heliyon
Ill-Min Chung, Sarada Ketharnathan, Seung-Hyun Kim, Muthu Thiruvengadam, Mari Kavitha Rani, Govindasamy Rajakumar
Proximity ligation assays such as circularized chromosome conformation capture and high-throughput chromosome capture assays have shed light on the structural organization of the interphase genome. Functional topologically associating domains (TADs) that constitute the building blocks of genomic organization are disrupted and reconstructed during the cell cycle. Epigenetic memory, as well as the sequence of chromosomes, regulate TAD reconstitution. Sub-TAD domains that are invariant across cell types have been identified, and contacts between these domains, rather than looping, are speculated to drive chromatin folding...
September 23, 2016: Genes
Axel Poulet, Aline V Probst, Katja Graumann, Christophe Tatout, David Evans
In this study, we explore the plasticity during evolution of proteins of the higher plant nuclear envelope (NE) from the most ancestral plant species to advanced angiosperms. The higher plant NE contains a functional Linker of Nucleoskeleton and Cytoskeleton (LINC) complex based on conserved Sad1-Unc84 (SUN) domain proteins and plant specific Klarsicht/Anc1/Syne homology (KASH) domain proteins. Recent evidence suggests the presence of a plant lamina underneath the inner membrane and various coiled-coil proteins have been hypothesized to be associated with it including Crowded Nuclei (CRWN; also termed LINC and NMCP), Nuclear Envelope Associated Protein (NEAP) protein families as well as the CRWN binding protein KAKU4...
January 2, 2017: Nucleus
Wei Xie, Alexandre Chojnowski, Thomas Boudier, John S Y Lim, Sohail Ahmed, Zheng Ser, Colin Stewart, Brian Burke
The nuclear lamina is a universal feature of metazoan nuclear envelopes (NEs) [1]. In mammalian cells, it appears as a 10-30 nm filamentous layer at the nuclear face of the inner nuclear membrane (INM) and is composed primarily of A- and B-type lamins, members of the intermediate filament family [2]. While providing structural integrity to the NE, the lamina also represents an important signaling and regulatory platform [3]. Two A-type lamin isoforms, lamins A and C (LaA and LaC), are expressed in most adult human cells...
October 10, 2016: Current Biology: CB
Jérôme D Robin, Frédérique Magdinier
Lamins are intermediate filaments that form a complex meshwork at the inner nuclear membrane. Mammalian cells express two types of Lamins, Lamins A/C and Lamins B, encoded by three different genes, LMNA, LMNB1, and LMNB2. Mutations in the LMNA gene are associated with a group of phenotypically diverse diseases referred to as laminopathies. Lamins interact with a large number of binding partners including proteins of the nuclear envelope but also chromatin-associated factors. Lamins not only constitute a scaffold for nuclear shape, rigidity and resistance to stress but also contribute to the organization of chromatin and chromosomal domains...
2016: Frontiers in Genetics
Jerome Irianto, Charlotte R Pfeifer, Irena L Ivanovska, Joe Swift, Dennis E Discher
Dysmorphic nuclei are commonly seen in cancers and provide strong motivation for studying the main structural proteins of nuclei, the lamins, in cancer. Past studies have also demonstrated the significance of microenvironment mechanics to cancer progression, which is extremely interesting because the lamina was recently shown to be mechanosensitive. Here, we review current knowledge relating cancer progression to lamina biophysics. Lamin levels can constrain cancer cell migration in 3D and thereby impede tumor growth, and lamins can also protect a cancer cell's genome...
June 2016: Cellular and Molecular Bioengineering
Jinzhao Zhao, Hong Yao, Zongzhe Li, Li Wang, Guangzong Liu, Dao W Wang, Dao Wen Wang, Zhaoguang Liang
Genetic factor plays an important role in cardiac arrhythmias. Several loci have been identified associated with this disease. However, they only explained parts of it and more genes and loci remain to be identified. In present study, we recruited a four generation family from the north of China. Four members of this family were diagnosed with atrial fibrillation by electrocardiogram (ECG). We used Exome Sequencing and Sanger sequencing to explore the candidate mutation for cardiac arrhythmia in this family...
August 2016: European Journal of Medical Genetics
Pei-Ling Tsai, Chenguang Zhao, Elizabeth Turner, Christian Schlieker
Lamin B receptor (LBR) is a polytopic membrane protein residing in the inner nuclear membrane in association with the nuclear lamina. We demonstrate that human LBR is essential for cholesterol synthesis. LBR mutant derivatives implicated in Greenberg skeletal dysplasia or Pelger-Huët anomaly fail to rescue the cholesterol auxotrophy of a LBR-deficient human cell line, consistent with a loss-of-function mechanism for these congenital disorders. These disease-causing variants fall into two classes: point mutations in the sterol reductase domain perturb enzymatic activity by reducing the affinity for the essential cofactor NADPH, while LBR truncations render the mutant protein metabolically unstable, leading to its rapid degradation at the inner nuclear membrane...
June 23, 2016: ELife
Isabelle Duband-Goulet
It is now clearly demonstrated that nuclear lamins interact with the genomic DNA and largely contribute to its three-dimensional organization and transcriptional regulation. Emergence of genome-wide mapping techniques such as DamID technology or chromatin immunoprecipitation (ChIP) followed by array hybridization or high-throughput sequencing has allowed the mapping of large lamin-interacting genomic areas called lamina-associated domains. These cover up to 40 % of the genome and are preferentially located in transcriptionally silent heterochromatin at the nuclear periphery...
2016: Methods in Molecular Biology
Anja R Oldenburg, Philippe Collas
The nuclear lamina is a meshwork of A- and B-type lamins which interact with chromatin and regulate many nuclear functions. Recent studies have reported the discovery of chromatin domains interacting with nuclear lamins by chromatin immunoprecipitation (ChIP) of lamin A/C or B1 and identification of the associated DNA sequences by microarray or high-throughput sequencing. ChIP has been used over many years to get a snapshot of interactions between DNA and proteins in cells, including modified histones, transcription factors, chromatin remodelers, and recently, structural proteins such as nuclear lamins...
2016: Methods in Molecular Biology
Eric Sonntag, Stuart T Hamilton, Hanife Bahsi, Sabrina Wagner, Stipan Jonjic, William D Rawlinson, Manfred Marschall, Jens Milbradt
Nuclear egress of herpesvirus capsids through the nuclear envelope is mediated by the multimeric nuclear egress complex (NEC). The human cytomegalovirus (HCMV) core NEC is defined by an interaction between the membrane-anchored pUL50 and its nuclear co-factor pUL53, tightly associated through heterodimeric corecruitment to the nuclear envelope. Cellular proteins, such as p32/gC1qR, emerin and protein kinase C (PKC), are recruited by direct interaction with pUL50 for the multimeric extension of the NEC. As a functionally important event, the recruitment of both viral and cellular protein kinases leads to site-specific lamin phosphorylation and nuclear lamina disassembly...
July 2016: Journal of General Virology
Jelena Perovanovic, Stefania Dell'Orso, Viola F Gnochi, Jyoti K Jaiswal, Vittorio Sartorelli, Corinne Vigouroux, Kamel Mamchaoui, Vincent Mouly, Gisèle Bonne, Eric P Hoffman
The nuclear envelope protein lamin A is encoded by thelamin A/C(LMNA) gene, which can contain missense mutations that cause Emery-Dreifuss muscular dystrophy (EDMD) (p.R453W). We fused mutated forms of the lamin A protein to bacterial DNA adenine methyltransferase (Dam) to define euchromatic-heterochromatin (epigenomic) transitions at the nuclear envelope during myogenesis (using DamID-seq). Lamin A missense mutations disrupted appropriate formation of lamin A-associated heterochromatin domains in an allele-specific manner-findings that were confirmed by chromatin immunoprecipitation-DNA sequencing (ChIP-seq) in murine H2K cells and DNA methylation studies in fibroblasts from muscular dystrophy patient who carried a distinctLMNAmutation (p...
April 20, 2016: Science Translational Medicine
Yining Huang, Aftab Amin, Yan Qin, Ziyi Wang, Huadong Jiang, Lu Liang, Linjing Shi, Chun Liang
The yeast Ipi3p is required for DNA replication and cell viability in Sacharomyces cerevisiae. It is an essential component of the Rix1 complex (Rix1p/Ipi2p-Ipi1p-Ipi3p) that is required for the processing of 35S pre-rRNA in pre-60S ribosomal particles and for the initiation of DNA replication. The human IPI3 homolog is WDR18 (WD repeat domain 18), which shares significant homology with yIpi3p. Here we report that knockdown of hIPI3 resulted in substantial defects in the chromatin association of the MCM complex, DNA replication, cell cycle progression and cell proliferation...
2016: PloS One
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