DOCSLIB.ORG

POM121 Antibody Product Data Sheet Tested Species Reactivity Details Human (Hu) Catalog Number: PA5-36498 Mouse (Ms) Size: 100 Μl Rat (Rt) Class: Polyclonal

Total Page：16

File Type：pdf, Size：1020Kb

Download full-text PDF Read full-text
POM121 Antibody Product Data Sheet Tested Species Reactivity Details Human (Hu) Catalog Number: PA5-36498 Mouse (Ms) Size: 100 Μl Rat (Rt) Class: Polyclonal Lot Number: RI2270951 POM121 Antibody Product Data Sheet Tested Species Reactivity Details Human (Hu) Catalog Number: PA5-36498 Mouse (Ms) Size: 100 µl Rat (Rt) Class: Polyclonal Type: Antibody Tested Applications Dilution * Clone: Western Blot (WB) 1:500-1:1000 Host / Isotype: Rabbit / IgG Immunohistochemistry (Paraffin) Synthetic peptide corresponding to 1:50-1:200 Immunogen: (IHC (P)) the C-terminual of human POM121 * Suggested working dilutions are given as a guide only. It is recommended that the user titrates the product for use in their own experiment using appropriate negative and positive controls. Form Information Form: Liquid Concentration: 1mg/ml Purification: Antigen affinity chromatography Storage Buffer: PBS, pH 7.2 Preservative: 0.05% sodium azide Store at 4°C short term. For long Storage Conditions: term storage, store at -20°C, avoiding freeze/thaw cycles. Product Specific Information General Information This antibody detects endogenous protein at a molecular weight of 121 kDa. POM121 (POM121 membrane glycoprotein), also known as POM121A (nuclear envelope pore membrane protein POM 121A), NUP121 Purity is >95% by SDS-PAGE. (nucleoporin Nup121) or pore membrane protein of 121 kDa, is a 1,249 For Research Use Only. Not for use in diagnostic procedures. Not for amino acid single-pass membrane protein that exists as three alternatively resale without express authorization. spiced isoforms and belongs to the POM121 family. Encoded by a gene that maps to human chromosome 7q11.23, POM121 is highly conserved and localizes to nucleus membrane and endoplasmic reticulum membrane. An essential component of the nuclear pore complex (NPC), POM121 is mandatory for nuclear envelope formation and may play a role in biogenesis of the NPC. POM121 associates with the central spoke ring complex and is involved in anchoring components of the pore complex to the pore membrane by way of its F-X-F-G repeat-containing domain. POM121 overexpression induces the formation of cytoplasmic annulate lamellae (AL). For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization. Products are warranted to operate or perform substantially in conformance with published Product specifications in effect at the time of sale, as set forth in the Production documentation, specfications and/or accompanying package inserts ("Documentation"). No claim of suitability for use in applications regulated by FDA is made. The warranty provided herein is valid only when used by properly trained individuals. Unless otherwise stated in the Documentation, this warranty is limited to one year from date of shipment when the Product is subjected to normal, proper and intended usage. This warranty does not extend to anyone other than the Buyer. Any model or sample furned to Buyer is merely illustrative of the gerneal type and quality of goods and does not represent taht any Product will conform to such model or sample. NO OTHER WARRANTIES, EXPRESS OR IMPLED, ARE GRANTED INCLUDING WITHOUT LIMITATION, IMPLIED WARRANTIES OF MERCHANTABILITY, FITNESS FOR ANY PARTICULAR PURPOSE, OR NON INFRINGMENET. BUYER'S EXCLUSIVE REMEDY FOR NON-CONFORMING PRODUCSTS DURING THE WARRANTY PERIOD IS LIMITED TO REPAIR, REPLACEMENT OF OR REFUND FOR THE NON-CONFORMING PRODUCT(S) AT SELLER'S SOLE OPTION. THERE IS NO OBLIGATION TO REPAIR, REPLACE OR REFUND FOR PRODUCTS AS THE RESULT OF (I) ACCIDENT, DISASTER OR EVENT OF FORCE MAJEURE, (II) MISUSE, FAULT OR NEGLIEGENCE OF OR BY BUYER, (III) USE OF THE PRODUCTS IN A MANNER FOR WHICH THEY WERE NOT DESIGNED, OR (IV) IMPROPER STORAGE AND HANDLING OF THE PRODUCTS. Unless otherwise expressly stated on the Product or in the documentation accompanying the Product, the Product is intended for research only and is not to be used for any other purpose, including without limitation, unauthorized commercial uses, in vitro diagnostic uses, ex vivo or in vivo therapeutic uses, or any tpe of consumption by or application to human or animals. Thermo Fisher PO Box 117 (815) 968-0747 OR (800) 874-3723 thermofisher.com/antibodies 3747 N. Meridian Road Rockford, IL 61105 USA (815) 968-7316 fax.
Load more

Recommended publications
  • Aneuploidy: Using Genetic Instability to Preserve a Haploid Genome?
    Health Science Campus FINAL APPROVAL OF DISSERTATION Doctor of Philosophy in Biomedical Science (Cancer Biology) Aneuploidy: Using genetic instability to preserve a haploid genome? Submitted by: Ramona Ramdath In partial fulfillment of the requirements for the degree of Doctor of Philosophy in Biomedical Science Examination Committee Signature/Date Major Advisor: David Allison, M.D., Ph.D. Academic James Trempe, Ph.D. Advisory Committee: David Giovanucci, Ph.D. Randall Ruch, Ph.D. Ronald Mellgren, Ph.D. Senior Associate Dean College of Graduate Studies Michael S. Bisesi, Ph.D. Date of Defense: April 10, 2009 Aneuploidy: Using genetic instability to preserve a haploid genome? Ramona Ramdath University of Toledo, Health Science Campus 2009 Dedication I dedicate this dissertation to my grandfather who died of lung cancer two years ago, but who always instilled in us the value and importance of education. And to my mom and sister, both of whom have been pillars of support and stimulating conversations. To my sister, Rehanna, especially- I hope this inspires you to achieve all that you want to in life, academically and otherwise. ii Acknowledgements As we go through these academic journeys, there are so many along the way that make an impact not only on our work, but on our lives as well, and I would like to say a heartfelt thank you to all of those people: My Committee members- Dr. James Trempe, Dr. David Giovanucchi, Dr. Ronald Mellgren and Dr. Randall Ruch for their guidance, suggestions, support and confidence in me. My major advisor- Dr. David Allison, for his constructive criticism and positive reinforcement.
    [Show full text]
  • NLS-Mediated NPC Functions of the Nucleoporin Pom121
    FEBS Letters 584 (2010) 3292–3298 journal homepage: www.FEBSLetters.org NLS-mediated NPC functions of the nucleoporin Pom121 Sevil Yavuz, Rachel Santarella-Mellwig, Birgit Koch, Andreas Jaedicke, Iain W. Mattaj *,1, Wolfram Antonin **,1 European Molecular Biology Laboratory, Meyerhofstrasse 1, 69117 Heidelberg, Germany article info abstract Article history: RanGTP mediates nuclear import and mitotic spindle assembly by dissociating import receptors Received 23 February 2010 from nuclear localization signal (NLS) bearing proteins. We investigated the interplay between Revised 31 May 2010 import receptors and the transmembrane nucleoporin Pom121. We found that Pom121 interacts Accepted 2 July 2010 with importin a/b and a group of nucleoporins in an NLS-dependent manner. In vivo, replacement Available online 14 July 2010 of Pom121 with an NLS mutant version resulted in defective nuclear transport, induction of aber- Edited by Ulrike Kuttay rant cytoplasmic membrane stacks and decreased cell viability. We propose that the NLS sites of Pom121 affect its function in NPC assembly both by influencing nucleoporin interactions and pore membrane structure. Keywords: Pom121 Nucleoporin Structured summary: Importin MINT-7951230: pom121 (uniprotkb:Q5EWX9) physically interacts (MI:0914) with nup155 (uni- protkb:O75694), Nup133 (uniprotkb:Q8WUM0) and Importin beta (uniprotkb:Q14974) by pull down (MI:0096) MINT-7951210: pom121 (uniprotkb:Q5EWX9) physically interacts (MI:0915) with Importin alpha (uni- protkb:P52170) and Importin beta (uniprotkb:P52297)
    [Show full text]
  • Nuclear Pore Complexes Cluster in Dysmorphic Nuclei of Normal and Progeria Cells During Replicative Senescence
    Nuclear Pore Complexes Cluster in Dysmorphic Nuclei of Normal and Progeria Cells during Replicative Senescence Jennifer M. Röhrl, Rouven Arnold and Karima Djabali * Epigenetics of Aging, Department of Dermatology and Allergy, TUM School of Medicine, Technical University of Munich (TUM), 85748 Garching, Germany; [email protected] (J.M.R.); [email protected] (R.A.) * Correspondence: [email protected] Supplementary Figures Figure S1: Seeding of NPCs, by ELYS on anaphase chromosomes was not affected in HGPS. Immunocytochemistry of (a) control (GMO1652c) and (b) HGPS (HGADFN003) fibroblasts using α‐ELYS and α‐LA antibody, counterstained with DAPI. NPCs cluster in interphase HGPS cells (b), unlike the evenly distributed punctate pattern in interphase control cells (a). Recruitment of ELYS to anaphase chromosomes is not affected in HGPS cells, compared to control. No defect in ELYS localization can be observed in HGPS from prophase to cytokinesis. NPC, nuclear pore complex; HGPS, Hutchinson‐Gilford progeria. n ≥3. Figure S2: Recruitment of basket nucleoporin NUP153 and scaffold nucleoporin NUP107 were not affected in HGPS. Immunocytochemistry of (a) control (GMO1652c) and (b) HGPS (HGADFN003) fibroblasts using α‐ NUP107 and α‐NUP153 antibodies, counterstained with DAPI. NPCs cluster in interphase HGPS cells (b), unlike the evenly spread out punctate pattern in control interphase (a). Recruitment of NUP153 to anaphase chromosomes is not affected in HGPS cells, compared to the control. No defect in NUP153 or NUP107 localization can be observed in HGPS from prophase to cytokinesis. n ≥3. Figure S3: SUN1 aggregates did not colocalize with mAb414. Immunocytochemistry of (a) control (GMO1652c) and (b) HGPS (HGADFN003) fibroblasts using mAb414 and α‐SUN1 antibodies, counterstained with DAPI.
    [Show full text]
  • Snapshot: the Nuclear Envelope II Andrea Rothballer and Ulrike Kutay Institute of Biochemistry, ETH Zurich, 8093 Zurich, Switzerland
    SnapShot: The Nuclear Envelope II Andrea Rothballer and Ulrike Kutay Institute of Biochemistry, ETH Zurich, 8093 Zurich, Switzerland H. sapiens D. melanogaster C. elegans S. pombe S. cerevisiae Cytoplasmic filaments RanBP2 (Nup358) Nup358 CG11856 NPP-9 – – – Nup214 (CAN) DNup214 CG3820 NPP-14 Nup146 SPAC23D3.06c Nup159 Cytoplasmic ring and Nup88 Nup88 (Mbo) CG6819 – Nup82 SPBC13A2.02 Nup82 associated factors GLE1 GLE1 CG14749 – Gle1 SPBC31E1.05 Gle1 hCG1 (NUP2L1, NLP-1) tbd CG18789 – Amo1 SPBC15D4.10c Nup42 (Rip1) Nup98 Nup98 CG10198 Npp-10N Nup189N SPAC1486.05 Nup145N, Nup100, Nup116 Nup 98 complex RAE1 (GLE2) Rae1 CG9862 NPP-17 Rae1 SPBC16A3.05 Gle2 (Nup40) Nup160 Nup160 CG4738 NPP-6 Nup120 SPBC3B9.16c Nup120 Nup133 Nup133 CG6958 NPP-15 Nup132, Nup131 SPAC1805.04, Nup133 SPBP35G2.06c Nup107 Nup107 CG6743 NPP-5 Nup107 SPBC428.01c Nup84 Nup96 Nup96 CG10198 NPP-10C Nup189C SPAC1486.05 Nup145C Outer NPC scaffold Nup85 (PCNT1) Nup75 CG5733 NPP-2 Nup-85 SPBC17G9.04c Nup85 (Nup107-160 complex) Seh1 Nup44A CG8722 NPP-18 Seh1 SPAC15F9.02 Seh1 Sec13 Sec13 CG6773 Npp-20 Sec13 SPBC215.15 Sec13 Nup37 tbd CG11875 – tbd SPAC4F10.18 – Nup43 Nup43 CG7671 C09G9.2 – – – Centrin-21 tbd CG174931, CG318021 R08D7.51 Cdc311 SPCC1682.04 Cdc311 Nup205 tbd CG11943 NPP-3 Nup186 SPCC290.03c Nup192 Nup188 tbd CG8771 – Nup184 SPAP27G11.10c Nup188 Central NPC scaffold Nup155 Nup154 CG4579 NPP-8 tbd SPAC890.06 Nup170, Nup157 (Nup53-93 complex) Nup93 tbd CG7262 NPP-13 Nup97, Npp106 SPCC1620.11, Nic96 SPCC1739.14 Nup53(Nup35, MP44) tbd CG6540 NPP-19 Nup40 SPAC19E9.01c
    [Show full text]
  • Two Distinct Human POM121 Genes: Requirement for the Formation of Nuclear Pore Complexes
    View metadata, citation and similar papers at core.ac.uk brought to you by CORE provided by Elsevier - Publisher Connector FEBS Letters 581 (2007) 4910–4916 Two distinct human POM121 genes: Requirement for the formation of nuclear pore complexes Tomoko Funakoshia, Kazuhiro Maeshimaa, Kazuhide Yahatab, Sumio Suganoc, Fumio Imamotob, Naoko Imamotoa,* a Cellular Dynamics Laboratory, Discovery Research Institute, RIKEN, 2-1 Hirosawa, Wako, Saitama 351-0198, Japan b Department of Molecular Biology, BIKEN, Osaka University, Osaka, Japan c The Institute of Medical Science, The University of Tokyo, Tokyo, Japan Received 30 March 2007; revised 12 September 2007; accepted 12 September 2007 Available online 21 September 2007 Edited by Ulrike Kutay essential in somatic cells, as this protein is not ubiquitously ex- Abstract Pom121 is one of the integral membrane components of the nuclear pore complex (NPC) in vertebrate cells. Unlike ro- pressed in mammalian cells [6]. Pom121 is recruited at an early dent cells carrying a single POM121 gene, human cells possess stage of post-mitotic nuclear reassembly in vertebrate cells, multiple POM121 gene loci on chromosome 7q11.23, as a conse- and its turnover on the interphase NPC is very slow [7]. These quence of complex segmental-duplications in this region during findings make Pom121 a strong candidate that could possess human evolution. In HeLa cells, two ‘‘full-length’’ Pom121 are essential roles in anchoring the NPC to the NE. Indeed, transcribed and translated by two distinct genetic loci. RNAi Pom121 was shown to be essential for NPC formation, but experiments showed that efficient depletion of both Pom121 pro- not gp210 in the Xenopus egg extracts [8].
    [Show full text]
  • Compositionally Distinct Nuclear Pore Complexes of Functionally Distinct Dimorphic Nuclei in the Ciliate Tetrahymena
    © 2017. Published by The Company of Biologists Ltd | Journal of Cell Science (2017) 130, 1822-1834 doi:10.1242/jcs.199398 RESEARCH ARTICLE Compositionally distinct nuclear pore complexes of functionally distinct dimorphic nuclei in the ciliate Tetrahymena Masaaki Iwamoto1, Hiroko Osakada1, Chie Mori1, Yasuhiro Fukuda2, Koji Nagao3, Chikashi Obuse3, Yasushi Hiraoka1,4,5 and Tokuko Haraguchi1,4,5,* ABSTRACT targeted transport of components to the MIC versus MAC, for which The nuclear pore complex (NPC), a gateway for nucleocytoplasmic differences in the NPCs may be important determinants. trafficking, is composed of ∼30 different proteins called nucleoporins. Previously, we analyzed 13 Tetrahymena nucleoporins (Nups), It remains unknown whether the NPCs within a species are and discovered that four paralogs of Nup98 were differentially homogeneous or vary depending on the cell type or physiological localized to the MAC and MIC (Iwamoto et al., 2009). The MAC- condition. Here, we present evidence for compositionally distinct and MIC-specific Nup98s are characterized by Gly-Leu-Phe-Gly NPCs that form within a single cell in a binucleated ciliate. In (GLFG) and Asn-Ile-Phe-Asn (NIFN) repeats, respectively, and this Tetrahymena thermophila, each cell contains both a transcriptionally difference is important for the nucleus-specific import of linker active macronucleus (MAC) and a germline micronucleus (MIC). By histones (Iwamoto et al., 2009). The full extent of the compositional combining in silico analysis, mass spectrometry analysis for immuno- differentiation of MAC and MIC NPCs could not, however, isolated proteins and subcellular localization analysis of GFP-fused be assessed, since only a small subset of the expected NPC proteins, we identified numerous novel components of MAC and MIC components were detected.
    [Show full text]
  • Nuclear Pore Density Controls Heterochromatin Reorganization During 2 Senescence 3 4 Charlene Boumendil1, Priya Hari2, Karl C
    bioRxiv preprint doi: https://doi.org/10.1101/374033; this version posted July 21, 2018. The copyright holder for this preprint (which was not certified by peer review) is the author/funder. All rights reserved. No reuse allowed without permission. 1 Nuclear pore density controls heterochromatin reorganization during 2 senescence 3 4 Charlene Boumendil1, Priya Hari2, Karl C. F. Olsen1, Juan Carlos Acosta2, Wendy A. 5 Bickmore1* 6 7 1MRC Human Genetics Unit, Institute oF Genetics and Molecular Medicine, University 8 of Edinburgh, Crewe Road South, Edinburgh EH4 2XU 9 10 2Cancer Research UK Edinburgh Centre, Institute oF Genetics and Molecular Medicine, 11 University oF Edinburgh, Crewe Road South, Edinburgh EH4 2XR 12 13 *correspondence to WAB, MRC Human Genetics Unit, Institute oF Genetics and Molecular 14 Medicine, University oF Edinburgh, Crewe Road South, Edinburgh EH4 2XU. 15 [email protected] 16 17 18 19 Abstract 20 Oncogene induced senescence (OIS) is a cell cycle arrest program triggered by oncogenic signalling. 21 An important characteristic oF OIS is activation oF the senescence associated secretory phenotype 22 (SASP)1 which can reinForce cell cycle arrest, lead to paracrine senescence but also promote tumour 23 progression2–4. Concomitant with cell cycle arrest and the SASP activation, OIS cells undergo a striking 24 nuclear chromatin reorganization, with loss oF heterochromatin From the nuclear periphery and the 25 appearance oF internal senescence-associated heterochromatin Foci (SAHF)5. The mechanisms by 26 which SAHF are Formed, and their role in cell cycle arrest and expression oF the SASP, remain poorly 27 understood.
    [Show full text]
  • Mutations in NUP160 Are Implicated in Steroid-Resistant Nephrotic Syndrome
    BASIC RESEARCH www.jasn.org Mutations in NUP160 Are Implicated in Steroid-Resistant Nephrotic Syndrome Feng Zhao,1,2,3,4 Jun-yi Zhu ,2 Adam Richman,2 Yulong Fu,2 Wen Huang,2 Nan Chen,5 Xiaoxia Pan,5 Cuili Yi,1 Xiaohua Ding,1 Si Wang,1 Ping Wang,1 Xiaojing Nie,1,3,4 Jun Huang,1,3,4 Yonghui Yang,1,3,4 Zihua Yu ,1,3,4 and Zhe Han2,6 1Department of Pediatrics, Fuzhou Dongfang Hospital, Fujian, People’s Republic of China; 2Center for Genetic Medicine Research, Children’s National Health System, Washington, DC; 3Department of Pediatrics, Affiliated Dongfang Hospital, Xiamen University, Fujian, People’s Republic of China; 4Department of Pediatrics, Fuzhou Clinical Medical College, Fujian Medical University, Fujian, People’s Republic of China; 5Department of Nephrology, Ruijin Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, People’s Republic of China; and 6Department of Genomics and Precision Medicine, The George Washington University School of Medicine and Health Sciences, Washington, DC ABSTRACT Background Studies have identified mutations in .50 genes that can lead to monogenic steroid-resistant nephrotic syndrome (SRNS). The NUP160 gene, which encodes one of the protein components of the nuclear pore complex nucleoporin 160 kD (Nup160), is expressed in both human and mouse kidney cells. Knockdown of NUP160 impairs mouse podocytes in cell culture. Recently, siblings with SRNS and pro- teinuria in a nonconsanguineous family were found to carry compound-heterozygous mutations in NUP160. Methods We identified NUP160 mutations by whole-exome and Sanger sequencing of genomic DNA from a young girl with familial SRNS and FSGS who did not carry mutations in other genes known to be associated with SRNS.
    [Show full text]
  • POM152 Is an Integral Protein of the Pore Membrane Domain of the Yeast Nuclear Envelope
    POM152 Is an Integral Protein of the Pore Membrane Domain of the Yeast Nuclear Envelope Richard W. Wozniak, Gfinter Blobel, and Michael P. Rout Laboratory of Cell Biology, Howard Hughes Medical Institute, The Rockefeller University, New York 10021 Abstract, We have identified a concanavalin A-reac- COOH-terminal region (1,142 residues) positioned on tive glycoprotein of 150 kD that coenriches with iso- the pore side and cisternal side of the pore membrane, lated yeast nuclear pore complexes. Molecular cloning respectively. The proposed cisternally exposed domain and sequencing of this protein revealed a single canon- contains eight repetitive motifs of ~ 24 residues. Sur- ical transmembrane segment. Epitope tagging and lo- prisingly, POM152 deletion mutants were viable and calization by both immunofluorescence and immuno- their growth rate was indistinguishable from that of electron microscopy confirmed that it is a pore wild-type cells at temperatures between 17 and 37°C. membrane protein. The protein was termed POM152 However, overproduction of POM152 inhibited cell (for pore membrane protein of 152 kD) on the basis growth. When expressed in mouse 3T3 cells, POM152 Downloaded from of its location and cDNA-deduced molecular mass. was found to be localized to the pore membrane, sug- POM152 is likely to be a type II membrane protein gesting a conserved sorting pathway between yeast and with its NHz-terminal region (175 residues) and its mammals. www.jcb.org UCLEAR pore complexes (NPCs) 1 are macromo- review see Akey, 1992). Conversely, the pore-exposed bulk lecular assemblies that serve to regulate nucleo- of POM121 is most likely an integral part of the pore side components of the NPC as it shares a repetitive pentapeptide N cytoplasmic communication (for review see Forbes, on April 12, 2006 1992).
    [Show full text]
  • How Nuclear Pore Complexes Assemble Marion Weberruss and Wolfram Antonin*
    © 2016. Published by The Company of Biologists Ltd | Journal of Cell Science (2016) 129, 4439-4447 doi:10.1242/jcs.194753 COMMENTARY Perforating the nuclear boundary – how nuclear pore complexes assemble Marion Weberruss and Wolfram Antonin* ABSTRACT (Alber et al., 2007; Ori et al., 2013). Functionally, nucleoporins can be The nucleus is enclosed by the nuclear envelope, a double roughly divided into three groups. First, transmembrane nucleoporins membrane which creates a selective barrier between the cytoplasm anchor the NPC in the pore membrane. In metazoa, three and the nuclear interior. Its barrier and transport characteristics are transmembrane nucleoporins have been identified: POM121, determined by nuclear pore complexes (NPCs) that are embedded GP210 (also known as NUP210) and NDC1. Members of the within the nuclear envelope, and control molecular exchange second group of nucleoporins belong to the symmetric structural between the cytoplasm and nucleoplasm. In this Commentary, we scaffold of the NPC. Finally, largely unstructured nucleoporins discuss the biogenesis of these huge protein assemblies from containing a high number of phenylalanine-glycine (FG) repeats form approximately one thousand individual proteins. We will summarize the permeability barrier that is essential for nucleocytoplasmic current knowledge about distinct assembly modes in animal cells that transport. are characteristic for different cell cycle phases and their regulation. The NPC structural scaffold is formed by a stack of three rings (Fig. 1): the nucleoplasmic and cytoplasmic rings, and the inner ring KEY WORDS: Annulate lamellae, Nuclear envelope, Nuclear pore (for a review, see Grossman et al., 2012). This arrangement and the complex, Nuclear transport nucleoporins creating these structures are similarly found in yeast (Hoelz et al., 2011; Stuwe et al., 2015; Lin et al., 2016).
    [Show full text]
  • Guidelines for Human Gene Nomenclature
    Nomenclature doi:10.1006/geno.2002.6748, available online at http://www.idealibrary.com on IDEAL Guidelines for Human Gene Nomenclature Hester M. Wain, Elspeth A. Bruford, Ruth C. Lovering, Michael J. Lush, Mathew W. Wright, and Sue Povey HUGO Gene Nomenclature Committee, The Galton Laboratory, Department of Biology, University College London, Wolfson House, 4, Stephenson Way, London, NW1 2HE, UK. E-mail: [email protected]. INTRODUCTION 1.2 Locus The word “locus” is not a synonym for gene but refers to a Guidelines for human gene nomenclature were first pub- map position. A more precise definition is given in the Rules lished in 1979 [1], when the Human Gene Nomenclature and Guidelines from the International Committee on Standardized Committee was first given the authority to approve and Genetic Nomenclature for Mice, which states: “A locus is a point implement human gene names and symbols. Updates of these in the genome, identified by a marker, which can be mapped guidelines were published in 1987 [2], 1995 [3], and 1997 [4]. by some means. It does not necessarily correspond to a gene; With the recent publications of the complete human genome it could, for example, be an anonymous non-coding DNA sequence there is an estimated total of 26,000–40,000 genes, segment or a cytogenetic feature. A single gene may have as suggested by the International Human Genome several loci within it (each defined by different markers) and Sequencing Consortium [5] and Venter et al. [6]. Thus, the these markers may be separated in genetic or physical map- guidelines (http://www.gene.ucl.ac.uk/nomenclature/ ping experiments.
    [Show full text]
  • University of California, San Diego
    UNIVERSITY OF CALIFORNIA, SAN DIEGO Defining the early steps in nuclear pore assembly: Chromatin-associated ELYS initiates pore assembly. A Dissertation submitted in partial satisfaction of the requirements for the degree Doctor of Philosophy in Biology by Beth A. Rasala Committee in charge: Professor Douglass J. Forbes, Chair Professor Don Cleveland Professor Randy Hampton Professor Maho Niwa Professor Mike Yaffe Copyright Beth A. Rasala, 2008 All rights reserved. The Dissertation of Beth A. Rasala is approved, and it is acceptable in quality and form for publication on microfilm: Chair University of California, San Diego 2008 iii To my parents, Ed and Penny Rasala. Thank you for all your love, support, and advice. Thank you for teaching me independence, dedication, perseverance, and laughter. All helped to guide me through this chapter of my life. iv TABLE OF CONTENTS Signature Page……………………………………………………………………. iii Dedication Page…..………………………………………………………………. iv Table of Contents…………………………………………………………………. v List of Figures and Tables.………………………………………………………. viii Acknowledgments...………………………………………………………………. xii Curriculum Vita…….……………………………………………………………… xv Abstract…………….……………………………………………………………… xvii General Introduction….…………………………………………………………… 1 I. Figures and Legends…………………………………………………... 14 II. References……….…………………………………………………….. 17 Chapter 1: ELYS is a dual nucleoporin/kinetochore protein required for nuclear pore assembly and proper cell division. I. Abstract………………………………………………………………..... 24 II. Introduction…………..…………………………………………………
    [Show full text]