keyword
MENU ▼
Read by QxMD icon Read
search

Lamin associated domain

keyword
https://www.readbyqxmd.com/read/29784648/mouse-models-of-nesprin-related-diseases
#1
REVIEW
Can Zhou, Li Rao, Derek T Warren, Catherine M Shanahan, Qiuping Zhang
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...
May 21, 2018: Biochemical Society Transactions
https://www.readbyqxmd.com/read/29717016/sun2-modulates-hiv-1-infection-and-latency-through-association-with-lamin-a-c-to-maintain-the-repressive-chromatin
#2
Wei-Wei Sun, Shi Jiao, Li Sun, Zhaocai Zhou, Xia Jin, Jian-Hua Wang
The postintegrational latency of HIV-1 is characterized by reversible silencing of long terminal repeat (LTR)-driven transcription of the HIV genome. It is known that the formation of repressive chromatin at the 5'-LTR of HIV-1 proviral DNA impedes viral transcription by blocking the recruitment of positive transcription factors. How the repressive chromatin is formed and modulated during HIV-1 infection remains elusive. Elucidation of which chromatin reassembly factor mediates the reorganization of chromatin is likely to facilitate the understanding of the host's modulation of HIV-1 transcription and latency...
May 1, 2018: MBio
https://www.readbyqxmd.com/read/29707406/three-mutations-in-the-bilateral-frontoparietal-polymicrogyria-gene-gpr56-in-pakistani-intellectual-disability-families
#3
Humaira Aziz Sawal, Ricardo Harripaul, Anna Mikhailov, Kayla Vleuten, Farooq Naeem, Tanveer Nasr, Muhammad Jawad Hassan, John B Vincent, Muhammad Ayub, Muhammad Arshad Rafiq
Bilateral frontoparietal polymicrogyria (BFPP, MIM 606854) is a heterogeneous autosomal recessive disorder of abnormal cortical lamination, leading to moderate-to-severe intellectual disability (ID), seizure disorder, and motor difficulties, and caused by mutations in the G protein-coupled receptor 56 ( GPR56 ) gene. Twenty-eight mutations in 40 different families have been reported in the literature. The clinical and neuroimaging phenotype is consistent in these cases. The BFPP cortex consists of numerous small gyral cells, with scalloping of the cortical-white matter junction...
June 2018: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/29700484/computational-3d-genome-modeling-using-chrom3d
#4
Jonas Paulsen, Tharvesh Moideen Liyakat Ali, Philippe Collas
Chrom3D is a computational platform for 3D genome modeling that simulates the spatial positioning of chromosome domains relative to each other and relative to the nuclear periphery. In Chrom3D, chromosomes are modeled as chains of contiguous beads, in which each bead represents a genomic domain. In this protocol, a bead represents a topologically associated domain (TAD) mapped from ensemble Hi-C data. Chrom3D takes as input data significant pairwise TAD-TAD interactions determined from a Hi-C contact matrix, and TAD interactions with the nuclear periphery, determined by ChIP-sequencing of nuclear lamins to define lamina-associated domains (LADs)...
May 2018: Nature Protocols
https://www.readbyqxmd.com/read/29676528/e3-ubiquitin-ligase-rnf123-targets-lamin-b1-and-lamin-binding-proteins
#5
Richa Khanna, Vidhya Krishnamoorthy, Veena K Parnaik
Lamins are key nuclear proteins which are important for maintaining nuclear structure and function. Mutations in lamins cause a spectrum of genetic diseases termed as laminopathies. RING finger containing E3 ubiquitin ligase, RNF123 is transcriptionally upregulated in cells expressing rod-domain lamin A mutations. However, the functional relevance of RNF123 in laminopathic cells is not clear. Using a mass spectrometry based approach, we identified lamins and lamin-binding proteins retinoblastoma protein (pRb), lamina-associated polypeptide 2α (LAP2α) and emerin as RNF123-interacting proteins...
April 20, 2018: FEBS Journal
https://www.readbyqxmd.com/read/29659604/similarity-in-replication-timing-between-polytene-and-diploid-cells-is-associated-with-the-organization-of-the-drosophila-genome
#6
Tatyana D Kolesnikova, Fedor P Goncharov, Igor F Zhimulev
Morphologically, polytene chromosomes of Drosophila melanogaster consist of compact "black" bands alternating with less compact "grey" bands and interbands. We developed a comprehensive approach that combines cytological mapping data of FlyBase-annotated genes and novel tools for predicting cytogenetic features of chromosomes on the basis of their protein composition and determined the genomic coordinates for all black bands of polytene chromosome 2R. By a PCNA immunostaining assay, we obtained the replication timetable for all the bands mapped...
2018: PloS One
https://www.readbyqxmd.com/read/29619865/mechanotransduction-nuclear-architecture-and-epigenetics-in-emery-dreifuss-muscular-dystrophy-tous-pour-un-un-pour-tous
#7
Bianchi Andrea, Manti Pierluigi Giuseppe, Lucini Federica, Lanzuolo Chiara
The alteration of the several roles that Lamin A/C plays in the mammalian cell leads to a broad spectrum of pathologies that - all together - are named laminopathies. Among those, the Emery Dreifuss Muscular Dystrophy (EDMD) is of particular interest as, despite the several known mutations of Lamin A/C, the genotype-phenotype correlation still remains poorly understood; this suggests that the epigenetic background of patients might play an important role during the time course of the disease. Historically, both a mechanical role of Lamin A/C and a regulative one have been suggested as the driving force of Laminopathies; however, those two hypotheses are not mutually exclusive...
April 5, 2018: Nucleus
https://www.readbyqxmd.com/read/29599122/intersectin-goes-nuclear-secret-life-of-an-endocytic-protein
#8
Gualtiero Alvisi, Lucia Paolini, Andrea Contarini, Chiara Zambarda, Veronica Di Antonio, Antonella Colosini, Nicole Mercandelli, Martina Timmoneri, Giorgio Palù, Luigi Caimi, Doris Ricotta, Annalisa Radeghieri
Intersectin 1-short (ITSN1-s) is a 1220 amino acids ubiquitously-expressed scaffold protein presenting a multi-domain structure that allows to spatiotemporally regulate the functional interaction of a plethora of proteins. Beside its well-established role in endocytosis, ITSN1-s is involved in regulation of cell signaling and is implicated in tumorigenesis processes, although the signaling pathways involved are still poorly understood. Here we identify ITSN1-s as a nucleocytoplasmic trafficking protein. We show that, by binding to importin (IMP)a, a small fraction of ITSN1-s localizes in the cell nucleus at the steady state, where it preferentially associates with the nuclear envelope (NE) and interacts with lamin A/C...
March 29, 2018: Biochemical Journal
https://www.readbyqxmd.com/read/29517398/laminopathy-causing-lamin-a-mutations-reconfigure-lamina-associated-domains-and-local-spatial-chromatin-conformation
#9
Nolwenn Briand, Philippe Collas
The nuclear lamina contributes to the regulation of gene expression and to chromatin organization. Mutations in A-type nuclear lamins cause laminopathies, some of which are associated with a loss of heterochromatin at the nuclear periphery. Until recently however, little if any information has been provided on where and how lamin A interacts with the genome and on how disease-causing lamin A mutations may rearrange genome conformation. Here, we review aspects of nuclear lamin association with the genome. We highlight recent evidence of reorganization of lamin A-chromatin interactions in cellular models of laminopathies, and implications on the 3-dimensional rearrangement of chromatin in these models, including patient cells...
January 1, 2018: Nucleus
https://www.readbyqxmd.com/read/29487227/nesprin-1-2-roles-in-nuclear-envelope-organisation-myogenesis-and-muscle-disease
#10
REVIEW
Can Zhou, Li Rao, Catherine M Shanahan, Qiuping Zhang
Nesprins (nuclear envelope spectrin repeat proteins) are multi-isomeric scaffolding proteins. Nesprin-1 and -2 are highly expressed in skeletal and cardiac muscles and together with SUN (Sad1p/UNC84) domain-containing proteins form the LInker of Nucleoskeleton and Cytoskeleton (LINC) complex at the nuclear envelope in association with lamin A/C and emerin. Mutations in nesprin-1/2 have been found in patients with autosomal dominant Emery-Dreifuss muscular dystrophy (EDMD) as well as dilated cardiomyopathy (DCM)...
April 17, 2018: Biochemical Society Transactions
https://www.readbyqxmd.com/read/29484800/changes-at-the-nuclear-lamina-alter-binding-of-pioneer-factor-foxa2-in-aged-liver
#11
Holly Whitton, Larry N Singh, Marissa A Patrick, Andrew J Price, Fernando G Osorio, Carlos López-Otín, Irina M Bochkis
Increasing evidence suggests that regulation of heterochromatin at the nuclear envelope underlies metabolic disease susceptibility and age-dependent metabolic changes, but the mechanism is unknown. Here, we profile lamina-associated domains (LADs) using lamin B1 ChIP-Seq in young and old hepatocytes and find that, although lamin B1 resides at a large fraction of domains at both ages, a third of lamin B1-associated regions are bound exclusively at each age in vivo. Regions occupied by lamin B1 solely in young livers are enriched for the forkhead motif, bound by Foxa pioneer factors...
June 2018: Aging Cell
https://www.readbyqxmd.com/read/29453404/prep1-tumor-suppressor-protects-the-late-replicating-dna-by-controlling-its-replication-timing-and-symmetry
#12
Angela Palmigiano, Francesco Santaniello, Aurora Cerutti, Dmitry Penkov, Divya Purushothaman, Ekta Makhija, Lucilla Luzi, Fabrizio d'Adda di Fagagna, Pier Giuseppe Pelicci, Viveswara Shivashankar, Gaetano Ivan Dellino, Francesco Blasi
The synthesis of middle-to-late-replicating DNA can be affected independently of the rest of the genome by down-regulating the tumor suppressor PREP1 (PKNOX1). Indeed, DNA combing shows that PREP1 down-regulation affects DNA replication rate, increases the number of simultaneously firing origins and the asymmetry of DNA replication, leading to DNA damage. Genome-wide analysis of replication timing by Repli-seq shows that, upon PREP1 down-regulation, 25% of the genome is replicated earlier in the S-phase. The targeted DNA sequences correspond to Lamin-Associated Domains (LADs), and include late-replicating (LRRs) and temporal transition regions (TTRs)...
February 16, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29415520/consequences-of-lamin-b1-and-lamin-b-receptor-downregulation-in-senescence
#13
REVIEW
Emilie Lukášová, Aleš Kovařík, Stanislav Kozubek
Anchoring of heterochromatin to the nuclear envelope appears to be an important process ensuring the spatial organization of the chromatin structure and genome function in eukaryotic nuclei. Proteins of the inner nuclear membrane (INM) mediating these interactions are able to recognize lamina-associated heterochromatin domains (termed LAD) and simultaneously bind either lamin A/C or lamin B1. One of these proteins is the lamin B receptor (LBR) that binds lamin B1 and tethers heterochromatin to the INM in embryonic and undifferentiated cells...
February 6, 2018: Cells
https://www.readbyqxmd.com/read/29363398/differential-staining-of-peripheral-nuclear-chromatin-with-acridine-orange-implies-an-a-form-epichromatin-conformation-of-the-dna
#14
Jekaterina Erenpreisa, Jekabs Krigerts, Kristine Salmina, Turs Selga, Hermanis Sorokins, Talivaldis Freivalds
The chromatin observed by conventional electron microscopy under the nuclear envelope constitutes a single layer of dense 30-35 nm granules, while ∼30 nm fibrils laterally attached to them, form large patches of lamin-associated domains (LADs). This particular surface "epichromatin" can be discerned by specific (H2A+H2B+DNA) conformational antibody at the inner nuclear envelope and around mitotic chromosomes. In order to differentiate the DNA conformation of the peripheral chromatin we applied an Acridine orange (AO) DNA structural test involving RNAse treatment and the addition of AO after acid pre-treatment...
January 1, 2018: Nucleus
https://www.readbyqxmd.com/read/29229671/h3s10ph-broadly-marks-early-replicating-domains-in-interphase-escs-and-shows-reciprocal-antagonism-with-h3k9me2
#15
Carol C L Chen, Preeti Goyal, Mohammad M Karimi, Marie H Abildgaard, Hiroshi Kimura, Matthew C Lorincz
Phosphorylation of histone H3 at serine 10 (H3S10ph) by Aurora kinases plays an important role in mitosis; however, H3S10ph also marks regulatory regions of inducible genes in interphase mammalian cells, implicating mitosis-independent functions. Using the fluorescent ubiquitin-mediated cell cycle indicator (FUCCI), we found that 30% of the genome in interphase mouse embryonic stem cells (ESCs) is marked with H3S10ph. H3S10ph broadly demarcates gene-rich regions in G1 and is positively correlated with domains of early DNA replication timing (RT) but negatively correlated with H3K9me2 and lamin-associated domains (LADs)...
January 2018: Genome Research
https://www.readbyqxmd.com/read/29040816/lamin-a-c-mutation-associated-with-lipodystrophy-influences-adipogenic-differentiation-of-stem-cells-through-interaction-with-notch-signaling
#16
Ksenia Perepelina, Renata I Dmitrieva, Elena Ignatieva, Aleksandra Borodkina, Anna Kostareva, Anna Malashicheva
Lamin A/C is involved in many cellular functions due to its ability to bind chromatin and transcription factors and affect their properties. Mutations of LMNA gene encoding lamin A/C affect differentiation capacity of stem cells. However, signaling pathways involved in interaction with lamins in cellular differentiation remain unclear. Lipodystrophy associated with LMNA mutation R482L causes loss of fat tissue. In this study we investigated the role of LMNA mutation R482L in modulating Notch signaling activity in adipogenic differentiation of mesenchymal stem cells...
October 17, 2017: Biochemistry and Cell Biology, Biochimie et Biologie Cellulaire
https://www.readbyqxmd.com/read/29029073/clinical-genetics-and-outcome-of-left-ventricular-non-compaction-cardiomyopathy
#17
Farbod Sedaghat-Hamedani, Jan Haas, Feng Zhu, Christian Geier, Elham Kayvanpour, Martin Liss, Alan Lai, Karen Frese, Regina Pribe-Wolferts, Ali Amr, Daniel Tian Li, Omid Shirvani Samani, Avisha Carstensen, Diana Martins Bordalo, Marion Müller, Christine Fischer, Jing Shao, Jing Wang, Ming Nie, Li Yuan, Sabine Haßfeld, Christine Schwartz, Min Zhou, Zihua Zhou, Yanwen Shu, Min Wang, Kai Huang, Qiutang Zeng, Longxian Cheng, Tobias Fehlmann, Philipp Ehlermann, Andreas Keller, Christoph Dieterich, Katrin Streckfuß-Bömeke, Yuhua Liao, Michael Gotthardt, Hugo A Katus, Benjamin Meder
Aims: In this study, we aimed to clinically and genetically characterize LVNC patients and investigate the prevalence of variants in known and novel LVNC disease genes. Introduction: Left ventricular non-compaction cardiomyopathy (LVNC) is an increasingly recognized cause of heart failure, arrhythmia, thromboembolism, and sudden cardiac death. We sought here to dissect its genetic causes, phenotypic presentation and outcome. Methods and results: In our registry with follow-up of in the median 61 months, we analysed 95 LVNC patients (68 unrelated index patients and 27 affected relatives; definite familial LVNC = 23...
December 7, 2017: European Heart Journal
https://www.readbyqxmd.com/read/29018139/shca-adaptor-protein-promotes-nephrin-endocytosis-and-is-upregulated-in-proteinuric-nephropathies
#18
Claire E Martin, Kelly A Petersen, Lamine Aoudjit, Manali Tilak, Vera Eremina, W Rod Hardy, Susan E Quaggin, Tomoko Takano, Nina Jones
Nephrin is a key structural component of the podocyte slit diaphragm, and proper expression of nephrin on the cell surface is critical to ensure integrity of the blood filtration barrier. Maintenance of nephrin within this unique cell junction has been proposed to require dynamic phosphorylation events and endocytic recycling, although the molecular mechanisms that control this interplay are poorly understood. Here, we investigated the possibility that the phosphotyrosine adaptor protein ShcA regulates nephrin turnover...
January 2018: Journal of the American Society of Nephrology: JASN
https://www.readbyqxmd.com/read/28858257/lamin-b-receptor-interplay-between-structure-function-and-localization
#19
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/28854936/nuclear-envelopathies-a-complex-linc-between-nuclear-envelope-and-pathology
#20
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
keyword
keyword
38867
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"