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Lamin associated domain

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https://www.readbyqxmd.com/read/27773430/mutations-in-cradd-result-in-reduced-caspase-2-mediated-neuronal-apoptosis-and-cause-megalencephaly-with-a-rare-lissencephaly-variant
#1
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
https://www.readbyqxmd.com/read/27699285/gamma-tubulin-coordinates-nuclear-envelope-assembly-around-chromatin
#2
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
https://www.readbyqxmd.com/read/27669308/making-sense-of-the-tangle-insights-into-chromatin-folding-and-gene-regulation
#3
REVIEW
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...
2016: Genes
https://www.readbyqxmd.com/read/27644504/exploring-the-evolution-of-the-proteins-of-the-plant-nuclear-envelope
#4
Axel Poulet, Aline V Probst, Katja Graumann, Christophe Tatout, David E 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 hypothesised 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...
September 19, 2016: Nucleus
https://www.readbyqxmd.com/read/27641764/a-type-lamins-form-distinct-filamentous-networks-with-differential-nuclear-pore-complex-associations
#5
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
https://www.readbyqxmd.com/read/27602048/physiological-and-pathological-aging-affects-chromatin-dynamics-structure-and-function-at-the-nuclear-edge
#6
REVIEW
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
https://www.readbyqxmd.com/read/27570565/nuclear-lamins-in-cancer
#7
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
https://www.readbyqxmd.com/read/27373676/a-novel-nonsense-mutation-in-lmna-gene-identified-by-exome-sequencing-in-an-atrial-fibrillation-family
#8
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
https://www.readbyqxmd.com/read/27336722/the-lamin-b-receptor-is-essential-for-cholesterol-synthesis-and-perturbed-by-disease-causing-mutations
#9
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
https://www.readbyqxmd.com/read/27147052/lamin-chip-from-chromatin-prepared-by-micrococcal-nuclease-digestion
#10
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
https://www.readbyqxmd.com/read/27147051/mapping-nuclear-lamin-genome-interactions-by-chromatin-immunoprecipitation-of-nuclear-lamins
#11
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
https://www.readbyqxmd.com/read/27145986/cytomegalovirus-pul50-is-the-multi-interacting-determinant-of-the-core-nuclear-egress-complex-nec-that-recruits-cellular-accessory-nec-components
#12
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
https://www.readbyqxmd.com/read/27099177/laminopathies-disrupt-epigenomic-developmental-programs-and-cell-fate
#13
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
https://www.readbyqxmd.com/read/27057756/a-role-of-hipi3-in-dna-replication-licensing-in-human-cells
#14
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
https://www.readbyqxmd.com/read/26992837/ultra-widefield-steering-based-spectral-domain-optical-coherence-tomography-imaging-of-the-retinal-periphery
#15
Netan Choudhry, John Golding, Matthew W Manry, Rajesh C Rao
PURPOSE: To describe the spectral-domain optical coherence tomography (SD OCT) features of peripheral retinal findings using an ultra-widefield (UWF) steering technique to image the retinal periphery. DESIGN: Observational study. PARTICIPANTS: A total of 68 patients (68 eyes) with 19 peripheral retinal features. MAIN OUTCOME MEASURES: Spectral-domain OCT-based structural features. METHODS: Nineteen peripheral retinal features, including vortex vein, congenital hypertrophy of the retinal pigment epithelium, pars plana, ora serrata pearl, typical cystoid degeneration (TCD), cystic retinal tuft, meridional fold, lattice and cobblestone degeneration, retinal hole, retinal tear, rhegmatogenous retinal detachment, typical degenerative senile retinoschisis, peripheral laser coagulation scars, ora tooth, cryopexy scars (retinal tear and treated retinoblastoma scar), bone spicules, white without pressure, and peripheral drusen, were identified by peripheral clinical examination...
June 2016: Ophthalmology
https://www.readbyqxmd.com/read/26922519/permanent-farnesylation-of-lamin-a-mutants-linked-to-progeria-impairs-its-phosphorylation-at-serine-22-during-interphase
#16
Olga Moiseeva, Stéphane Lopes-Paciencia, Geneviève Huot, Frédéric Lessard, Gerardo Ferbeyre
Mutants of lamin A cause diseases including the Hutchinson-Gilford progeria syndrome (HGPS) characterized by premature aging. Lamin A undergoes a series of processing reactions, including farnesylation and proteolytic cleavage of the farnesylated C-terminal domain. The role of cleavage is unknown but mutations that affect this reaction lead to progeria. Here we show that interphase serine 22 phosphorylation of endogenous mutant lamin A (progerin) is defective in cells from HGPS patients. This defect can be mimicked by expressing progerin in human cells and prevented by inhibition of farnesylation...
February 2016: Aging
https://www.readbyqxmd.com/read/26921507/lamin-a-reassembly-at-the-end-of-mitosis-is-regulated-by-its-sumo-interacting-motif
#17
Takanobu Moriuchi, Masaki Kuroda, Fumiya Kusumoto, Takashi Osumi, Fumiko Hirose
Modification of proteins with small ubiquitin-related modifier (SUMO; SUMOylation) is involved in the regulation of various biological processes. Recent studies have demonstrated that noncovalent associations between SUMOylated proteins and co-operative proteins containing SUMO-interacting motifs (SIMs) are important for the spatiotemporal organization of many protein complexes. In this study, we demonstrate that interactions between lamin A, a major component of the nuclear lamina, and SUMO isoforms are dependent on one of the four SIMs (SIM3) resided in lamin A polypeptide in vitro...
March 1, 2016: Experimental Cell Research
https://www.readbyqxmd.com/read/26892013/non-farnesylated-b-type-lamin-can-tether-chromatin-inside-the-nucleus-and-its-chromatin-interaction-requires-the-ig-fold-region
#18
Ryo Uchino, Shin Sugiyama, Motoi Katagiri, Yoshiro Chuman, Kazuhiro Furukawa
Lamins are thought to direct heterochromatin to the nuclear lamina (NL); however, this function of lamin has not been clearly demonstrated in vivo. To address this, we analyzed polytene chromosome morphology when artificial lamin variants were expressed in Drosophila endoreplicating cells. We found that the CaaX-motif-deleted B-type lamin Dm0, but not A-type lamin C, was able to form a nuclear envelope-independent layer that was closely associated with chromatin. Other nuclear envelope proteins were not detected in this "ectopic lamina," and the associated chromatin showed a repressive histone modification maker but not a permissive histone modification marker nor RNA polymerase II proteins...
February 19, 2016: Chromosoma
https://www.readbyqxmd.com/read/26883443/mechanisms-of-nuclear-lamina-growth-in-interphase
#19
Oxana A Zhironkina, Svetlana Yu Kurchashova, Vasilisa A Pozharskaia, Varvara D Cherepanynets, Olga S Strelkova, Pavel Hozak, Igor I Kireev
The nuclear lamina represents a multifunctional platform involved in such diverse yet interconnected processes as spatial organization of the genome, maintenance of mechanical stability of the nucleus, regulation of transcription and replication. Most of lamina activities are exerted through tethering of lamina-associated chromatin domains (LADs) to the nuclear periphery. Yet, the lamina is a dynamic structure demonstrating considerable expansion during the cell cycle to accommodate increased number of LADs formed during DNA replication...
April 2016: Histochemistry and Cell Biology
https://www.readbyqxmd.com/read/26798136/a-type-lamins-bind-both-hetero-and-euchromatin-the-latter-being-regulated-by-lamina-associated-polypeptide-2-alpha
#20
Kevin Gesson, Philipp Rescheneder, Michael P Skoruppa, Arndt von Haeseler, Thomas Dechat, Roland Foisner
Lamins are components of the peripheral nuclear lamina and interact with heterochromatic genomic regions, termed lamina-associated domains (LADs). In contrast to lamin B1 being primarily present at the nuclear periphery, lamin A/C also localizes throughout the nucleus, where it associates with the chromatin-binding protein lamina-associated polypeptide (LAP) 2 alpha. Here, we show that lamin A/C also interacts with euchromatin, as determined by chromatin immunoprecipitation of euchromatin- and heterochromatin-enriched samples...
April 2016: Genome Research
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