DOCSLIB.ORG

With Acute Promyelocytic Leukemia (Somatic Cell Hybrids/C-Fes/Localization of Breakpoints/Gene Mapping) DENISE SHEER*, LYNNE R

Total Page：16

File Type：pdf, Size：1020Kb

Download full-text PDF Read full-text
With Acute Promyelocytic Leukemia (Somatic Cell Hybrids/C-Fes/Localization of Breakpoints/Gene Mapping) DENISE SHEER*, LYNNE R Proc. Natl Acad. Sci. USA Vol. 80, pp. 5007-5011, August 1983 Genetics Genetic analysis of the 15;17 chromosome translocation associated with acute promyelocytic leukemia (somatic cell hybrids/c-fes/localization of breakpoints/gene mapping) DENISE SHEER*, LYNNE R. HIORNS*, KARINA F. STANLEY*, PETER N. GOODFELLOW*, DALLAS M. SWALLOWt, SUSAN POVEYt, NORA HEISTERKAMPt, JOHN GROFFENt, JOHN R. STEPHENSONt, AND ELLEN SOLOMON* *Imperial Cancer Research Fund, Lincoln's Inn Fields, London WC2A 3PX, United Kingdom; tMedical Research Council Human Biochemical Genetics Unit, The Galton Laboratory, University College, London WC2, United Kingdom; and tLaboratory of Viral Carcinogenesis, National Cancer Institute, Frederick, Maryland 21701 Communicated by Walter F. Bodmer, April 20, 1983 ABSTRACT Somatic cell hybrids have been constructed be- quences that map at the position of the translocation break- tween a thymidine kinase-deficient mouse cell line and blood leu- points (9, 18, 19). kocytes from a patient with acute promyelocytic leukemia showing The human cellular homologues of the feline sarcoma virus the 15q+;17q- chromosome translocation frequently associated v-fes gene and of v-fps, a transforming gene shared by several with this disease. One hybrid contains the 15q+ translocation independent isolates of avian sarcoma viruses, correspond to a chromosome and very little other human material. We have shown common cellular locus, c-fes (20, 21), mapping on human chro- that the c-fes oncogene, which has been mapped to chromosome mosome 15 (13, 22). Functionally, v-fes and v-fps are also re- 15, is not present in this hybrid and, therefore, probably is trans- lated in that both encode transforming proteins with tyrosine- located to the 17q- chromosome. Analysis of the genetic markers specific protein kinase activity (23-27). The present was present in this hybrid has enabled a more precise localization of study the translocation breakpoints on chromosomes 15 and 17. Our ex- undertaken to ascertain whether c-fes is involved in the periments also have enabled an ordering and more precise map- 15q+;17q- chromosome translocation frequently associated ping of several genetic markers on chromosomes 15 and 17. with acute promyelocytic leukemia (APL) (28-31). This trans- location occurs as a reciprocal exchange of the distal segments Several oncogenes, each of which was initially detected by use of the q arms of chromosomes 15 and 17. We also have been of transforming retrovirus-derived molecular probes, have been able to map more precisely the translocation breakpoints rel- identified within the human genome (1). Many of these human ative to known genetic markers on these chromosomes. sequences have been molecularly cloned, and studies have been initiated to determine their possible relationship to oncogenici- MATERIALS AND METHODS ty in man. At least two sequences, c-rasKi and c-rasHa, trans- Cells. Frozen blood leukocytes from a 26-yr-old male patient form NIH 3T3 mouse cells in culture upon direct isolation from (J.D.) with the typical "M3" form of APL (32) were cultured for specific tumor cell lines (2-4). In other studies, human c-rasH, 48 hr in RPMI 1640 medium containing 20% fetal calf serum sequences have been isolated that lack such activity but do before karyotyping. The growth medium was supplemented with transform cells when linked to retrovirus promoter sequences filtered supernatant from a 7-day culture of phytohemagglu- (5). Similar results have been obtained with c-mos, the mouse tinin-stimulated normal blood lymphocytes to give a final con- cellular homologue of the Moloney murine sarcoma virus on- centration of 10%. A subelone of the 3T3 mouse cell line (33), cogene (6), whereas activation of the mouse c-mos gene by a which is deficient for thymidine kinase (TK), was used for prep- transposition event resulting in its positioning adjacent to an aration of somatic cell hybrids. insertion sequence (IS)-like element has been described more Somatic Cell Hybridization. Frozen blood leukocytes from recently (7). patient J.D. were fused with 3T3 (TK-) cells by using poly- By somatic cell hybridization, many of the known oncogenes ethylene glycol (34). TK+ hybrids were selected in HAT me- have been assigned to specific human chromosomes (8-15). Al- dium [RPMI 1640 medium containing 20% fetal calf serum and though the distribution of such sequences appears somewhat HAT (100 ,uaM hypoxanthine/10 ,uM methotrexate/16 ,uM thy- random, many of the chromosomes to which these genes have midine)] (35, 36). The unfused 3T3 cells die in HAT medium been localized are involved in translocations associated with as they lack TK activity, whereas normal leukocytes are unable specific human neoplasms. For instance, c-abl has been local- to grow in culture without mitogenic stimulation. Back-selec- ized in a small terminal fragment of the long arm, q, of chro- tion of TK- variants was carried out by growing hybrids in me- mosome 9, which is translocated to chromosome 22 in chronic dium with 60 ,ug of BrdUrd per ml (37, 38). myelogenous leukemia (CML) (16), whereas c-sis maps within Genetic Markers. Genetic markers previously mapped to the region of chromosome 22 (q1l to qter), which translocates chromosome 15 were analyzed by published immunologic and to chromosome 9 in CML (17). In other studies, c-myc has been electrophoretic procedures (39-42). These were genes for 2- identified within a fragment of human chromosome 8, which microglobulin (B2M) (39), hexosaminidase a (HEXA) (41), man- is translocated to chromosomes 2, 14, or 22 in Burkitt lym- nosephosphate isomerase (MPI) (42), pyruvate kinase-3 (PKM2) phoma (8, 9). Of potential significance, each of the chromo- (42), and a cell surface antigen of apparent Mr 95,000 encoded by somes to which c-abl or c-myc are translocated in CML and Burkitt lymphoma, respectively, contain immunoglobulin se- Abbreviations: APL, acute promyelocytic leukemia; CML, chronic myelogenous leukemia; TK, thymidine kinase; HAT, hypoxanthine/ The publication costs of this article were defrayed in part by page charge methotrexate/thymidine; B2M, /2 microglobulin; HEXA, hexosamin- payment. This article must therefore be hereby marked "advertise- idase a; MPI, mannosephosphate isomerase; PKM2, pyruvate kinase- ment" in accordance with 18 U.S.C. §1734 solely to indicate this fact. 3; GALK, galactokinase; GAA, acid a-glucosidase; kb, kilobase(s). 5007 Downloaded by guest on October 1, 2021 5008ran Genetics: Sheer et aL Proc. Natl. Acad. Sci. USA 80 (1983) the gene MIC7 (40). As an independent means of identifying tained the 15q+ translocation chromosome in 37 of 40 cells ex- B2M, DNA Southern blot hybridization analysis was performed amined, chromosome 21 in 9 of 40 cells, and a marker chro- with a molecularly cloned cDNA probe provided by B. Wallace mosome that did not appear to be related to either chromosomes (43). Human c-fes sequences were identified by DNA Southern 15 or 17 in 5 of 40 cells. The presence ofTK in the hybrid PJT2/ blot hybridization with a 0.5-kilobase (kb) Kpn c-fes probe (des- A1 localizes the 15q+;17q- translocation breakpoint proximal ignated c-fes KO.5) as described (44). Of the genetic markers to or within band 17q210-220. This localization is supported by mapped to chromosome 17, galactokinase (GALK) and acid a- our finding that this hybrid also expresses GALK, which maps glucosidase (GAA) were assayed by starch gel electrophoresis (45); to 17q210-220 (50). the presence of the gene MIC6 coding for a cell surface antigen Genetic Markers Translocated from Chromosome 17 to of apparent M, 125,000 (46) was measured by radioimmunoas- 15q+. Fig. 2 shows the regional localization of previously de- say. The presence of the collagen al(I) gene COLIAI was mea- scribed genetic markers on chromosome 17 (46, 50, 53-56). As sured by DNA Southern blot hybridization with a human 15-kb predicted on the basis of its mapped position (54), GAA is ex- genomic DNA probe designated pgalH-1. This probe was iso- pressed in PJT2/A1 hybrid cells. Additionally, the PJT2/A1 hy- lated and provided by D. Rowe (University of Connecticut). brid contains the MIC6 gene (Fig. 3), thus establishing its Chromosome Analyses. Chromosomes were prepared by localization within the segment of chromosome 17 that is standard procedures. Leukocytes from the patient J. D. were translocated to the 15q+ chromosome in APL. Another locus, karyotyped by using G-banding (47) and Q-banding (48). Hu- COLlAI, coding for the a(I) chain of type I collagen, has been man chromosomes were identified in the hybrids by using G- mapped directly on chromosome 17 by molecular hybridization 11 (49), Q-banding, and G-banding techniques. analysis (56). By using a 15-kb genomic probe for this gene, this assignment was confirmed with hybrids containing chromo- some 17 as their only human material (unpublished data). We RESULTS used this probe to show that the gene is present in PJT2/A1 Karyotypic Analysis of Cultured Leukocytes from the APL hybrid cells (Table 1). This latter observation is consistent with Patient. A karyotype of 46,XY,t(15q+;17q-) (t designates results mapping a type I collagen gene to 17q21-q22 (55). translocation) was found in 18 of 20 cells examined, with no evi- Regional Localization of c-fes and Other Loci on Chro- dence for additional chromosome rearrangements. A repre- mosome 15. The availability of PJT2/A1 hybrid cells also en- sentative partial karyotype is shown in Fig. 1 Left. By G-band- abled a more precise localization of several genetic markers ing and Q-banding techniques, the translocation is characteristic previously mapped on chromosome 15, including c-fes (13, 22) of that previously described in APL (28-31). and B2M (51). As shown in Fig. 4 Left, the human cellular ho- Breakpoint in Chromosome 17 Relative to the TK and GALK mologue of v-fes (lane B), seen as Sst I restriction fragments of Genes.
Load more

Recommended publications
  • Impact of Fluorescence in Situ Hybridization in the Detection of Cryptic Fusion Transcript PML/RARA and a Complex T(5;15;17) in a Case of Acute Promyelocytic Leukemia
    Impact of Fluorescence in Situ Hybridization in the Detection of Cryptic Fusion Transcript PML/RARA and A Complex t(5;15;17) in a Case of Acute Promyelocytic Leukemia Gönül OGUR*,****, Turgay FEN**, Gülsan SUCAK***, Pierre HEIMANN*, Gaye CANKUÞ****, Rauf HAZNEDAR**** * Univérsité Libre de Bruxelles, Hôpital Erasme, Service Génétique Medicale, Bruxelles, BELGIUM ** Oncology Hospital, Ankara, TURKEY *** Adult Hematology Department, Faculty of Medicine, Gazi University, Ankara, TURKEY **** GEN-MED Genetic Diseases and Prenatal Diagnosis Center, Ankara, TURKEY ABSTRACT Genetic aspects of a 28 year-old female patient with typical morphological and clinical features of acute promyelocytic leukemia is presented. Pml/rara fusion transcript and a complex translocation involving chromosomes 5, 15 and 17 were detected by fluorescence in situ hybridization (FISH) tech- nique which was applied as in adjunct to conventional cytogenetics. The patient deceased soon in spite of the immediate ATRA and cytostatic therapy. Key Words: FISH, PML/RARA, Acute promyelocytic leukemia. Turk J Haematol 2000;17(4):207-212. INTRODUCTION sociated with t(15;17)(q22;q12-21). The diagnosis of APL and the detection of residual disease are Acute promyelocytic leukemia (APL) is a rara based on the presence of this translocati- distinct subtype of myeloid leukemia characterized on[1,3,4,5,6,7,15]. Rarely alternative balanced trans- by invasion of bone marrow by hypergranular le- locations have been described in subtypes of APL, ukemia cells, by specific translocations almost al- and as more cases are being evaluated, complex, ways involving chromosome 17 and by a high sen- variant translocations are increasingly recogni- sitivity of the promyelocytic blasts to retinoic acid zed[17,19,20,22, 24].
    [Show full text]
  • Rapid Molecular Assays to Study Human Centromere Genomics
    Downloaded from genome.cshlp.org on September 26, 2021 - Published by Cold Spring Harbor Laboratory Press Method Rapid molecular assays to study human centromere genomics Rafael Contreras-Galindo,1 Sabrina Fischer,1,2 Anjan K. Saha,1,3,4 John D. Lundy,1 Patrick W. Cervantes,1 Mohamad Mourad,1 Claire Wang,1 Brian Qian,1 Manhong Dai,5 Fan Meng,5,6 Arul Chinnaiyan,7,8 Gilbert S. Omenn,1,9,10 Mark H. Kaplan,1 and David M. Markovitz1,4,11,12 1Department of Internal Medicine, University of Michigan, Ann Arbor, Michigan 48109, USA; 2Laboratory of Molecular Virology, Centro de Investigaciones Nucleares, Facultad de Ciencias, Universidad de la República, Montevideo, Uruguay 11400; 3Medical Scientist Training Program, University of Michigan, Ann Arbor, Michigan 48109, USA; 4Program in Cancer Biology, University of Michigan, Ann Arbor, Michigan 48109, USA; 5Molecular and Behavioral Neuroscience Institute, University of Michigan, Ann Arbor, Michigan 48109, USA; 6Department of Psychiatry, University of Michigan, Ann Arbor, Michigan 48109, USA; 7Michigan Center for Translational Pathology and Comprehensive Cancer Center, University of Michigan Medical School, Ann Arbor, Michigan 48109, USA; 8Howard Hughes Medical Institute, Chevy Chase, Maryland 20815, USA; 9Department of Human Genetics, 10Departments of Computational Medicine and Bioinformatics, University of Michigan, Ann Arbor, Michigan 48109, USA; 11Program in Immunology, University of Michigan, Ann Arbor, Michigan 48109, USA; 12Program in Cellular and Molecular Biology, University of Michigan, Ann Arbor, Michigan 48109, USA The centromere is the structural unit responsible for the faithful segregation of chromosomes. Although regulation of cen- tromeric function by epigenetic factors has been well-studied, the contributions of the underlying DNA sequences have been much less well defined, and existing methodologies for studying centromere genomics in biology are laborious.
    [Show full text]
  • Chromosome Translocation, Recombination, and Nondisjunction
    Am. J. Hum. Genet. 58:1008-1016, 1996 The Impact of Imprinting: Prader-Willi Syndrome Resulting from Chromosome Translocation, Recombination, and Nondisjunction SuEllen Toth-Fejel,'"2 Susan Olson,",2 Kristine Gunter,'2' Franklin Quan," 3'4 Jan Wolford,3 Bradley W. Popovich,"3'4 and R. Ellen Magenis1,2 'Department of Molecular and Medical Genetics, 2Clinical and Research Cytogenetics Laboratories, and 3DNA Diagnostic Laboratory, Oregon Health Sciences University; and 4Shriners Hospital for Crippled Children, Portland Summary Several genetic mechanisms are responsible for the devel- Prader-Willi syndrome (PWS) is most often the result of opment of PWS. The majority (75%) of patients carry a deletion of bands qll.2-q13 of the paternally derived a deletion of the paternally derived chromosome i5qi1 - chromosome 15, but it also occurs either because of q13 (Ledbetter et al. 1981; Butler and Palmer 1983), maternal uniparental disomy (UPD) of this region or, with most nondeletion PWS patients having maternal rarely, from a methylation imprinting defect. A signifi- uniparental disomy (UPD) of chromosome 15 (Nicholls cant number of cases are due to structural rearrange- 1994). A small number of chromosomally normal pa- ments of the pericentromeric region of chromosome 15. tients carry an imprinting defect (Reis et al. 1994). PWS We report two cases of PWS with UPD in which there may be the clinical outcome of any chromosome 15 was a meiosis I nondisjunction error involving an altered structural change in which there has been a physical or chromosome 15 produced by both a translocation event functional loss of genetic material in the imprinted PWS between the heteromorphic satellite regions of chromo- critical region.
    [Show full text]
  • Functional Epialleles at an Endogenous Human Centromere
    Functional epialleles at an endogenous human centromere Kristin A. Maloneya,b,1,2, Lori L. Sullivana,2, Justyne E. Mathenya, Erin D. Stromea, Stephanie L. Merretta, Alyssa Ferrisc, and Beth A. Sullivana,b,3 aDuke Institute for Genome Sciences and Policy, Duke University, Durham, NC 27708; bDepartment of Molecular Genetics and Microbiology, Duke University Medical Center, Durham, NC 27710; and cNorth Carolina School of Science and Mathematics, Durham, NC 27705 Edited by Steven Henikoff, Fred Hutchinson Cancer Research Center, Seattle, WA, and approved July 9, 2012 (received for review February 22, 2012) Human centromeres are defined by megabases of homogenous monomers are arranged tandemly. A defined number of mono- alpha-satellite DNA arrays that are packaged into specialized chro- mers comprise a higher-order repeat (HOR) unit that then is re- matin marked by the centromeric histone variant, centromeric pro- peated hundreds to thousands of times, producing highly tein A (CENP-A). Although most human chromosomes have a single homogenous arrays that are 97–100% identical. Most Homo sa- higher-order repeat (HOR) array of alpha satellites, several chromo- piens chromosomes (HSA) are thought to have a single homoge- somes have more than one HOR array. Homo sapiens chromosome neous alpha-satellite array. However, some chromosomes, such as 17 (HSA17) has two juxtaposed HOR arrays, D17Z1 and D17Z1-B. HSA1, HSA5, HSA7, and HSA15, have two or more distinct arrays Only D17Z1 has been linked to CENP-A chromatin assembly. Here, that are each defined by different HORs (13–15). On HSA5 and we use human artificial chromosome assembly assays to show that HSA7, the two alpha-satellite arrays are separated by up to both D17Z1 and D17Z1-B can support de novo centromere assembly a megabase.
    [Show full text]
  • 15 Chromosome Chapter
    Chromosome 15 ©Chromosome Disorder Outreach Inc. (CDO) Technical genetic content provided by Dr. Iosif Lurie, M.D. Ph.D Medical Geneticist and CDO Medical Consultant/Advisor. Ideogram courtesy of the University of Washington Department of Pathology: ©1994 David Adler.hum_15.gif Introduction Chromosome 15 (as well as chromosomes 13 and 14) is an acrocentric chromosome. Its short arm does not contain any genes. The genetic length of the long arm of chromosome 15 is 81 Mb. It is ~3% of the total human genome. The length of its short arm is ~20 Mb. Chromosome 15 contains from 700 to 1,000 genes. At least 10% of these genes are important for the development of the body plan and sustaining numerous functional activities. There are 2 peculiar characteristics of this chromosome. 1. The structure of some regions of this chromosome (15q11.2 and 15q13.3) is predisposed to a relatively frequent occurrence of microdeletions and microduplications of these areas. Of course, diagnosis of these microanomalies is possible only using sophisticated molecular methods. An increasing amount of evidence regarding the clinical significance of these microanomalies shows that they make a particular niche between “standard” deletions (leading to some defects in all affected persons) and normal variants. Increased frequency of these microanomalies was found in patients with different types of pathology such as: schizophrenia, seizures, obesity, and autism. At the same time, many persons with these abnormalities (including many parents of affected persons) do not have any phenotypic abnormalities. Most likely, these microdeletions have to be considered as “risk factors”, but not the only cause of any type of pathology.
    [Show full text]
  • Chromosomal Disorders
    Understanding Genetic Tests and How They Are Used David Flannery,MD Medical Director American College of Medical Genetics and Genomics Starting Points • Genes are made of DNA and are carried on chromosomes • Genetic disorders are the result of alteration of genetic material • These changes may or may not be inherited Objectives • To explain what variety of genetic tests are now available • What these tests entail • What the different tests can detect • How to decide which test(s) is appropriate for a given clinical situation Types of Genetic Tests . Cytogenetic . (Chromosomes) . DNA . Metabolic . (Biochemical) Chromosome Test (Karyotype) How a Chromosome test is Performed Medicaldictionary.com Use of Karyotype http://medgen.genetics.utah.e du/photographs/diseases/high /peri001.jpg Karyotype Detects Various Chromosome Abnormalities • Aneuploidy- to many or to few chromosomes – Trisomy, Monosomy, etc. • Deletions – missing part of a chromosome – Partial monosomy • Duplications – extra parts of chromosomes – Partial trisomy • Translocations – Balanced or unbalanced Karyotyping has its Limits • Many deletions or duplications that are clinically significant are not visible on high-resolution karyotyping • These are called “microdeletions” or “microduplications” Microdeletions or microduplications are detected by FISH test • Fluorescence In situ Hybridization FISH fluorescent in situ hybridization: (FISH) A technique used to identify the presence of specific chromosomes or chromosomal regions through hybridization (attachment) of fluorescently-labeled DNA probes to denatured chromosomal DNA. Step 1. Preparation of probe. A probe is a fluorescently-labeled segment of DNA comlementary to a chromosomal region of interest. Step 2. Hybridization. Denatured chromosomes fixed on a microscope slide are exposed to the fluorescently-labeled probe. Hybridization (attachment) occurs between the probe and complementary (i.e., matching) chromosomal DNA.
    [Show full text]
  • Rare Allelic Forms of PRDM9 Associated with Childhood Leukemogenesis
    Rare allelic forms of PRDM9 associated with childhood leukemogenesis Julie Hussin1,2, Daniel Sinnett2,3, Ferran Casals2, Youssef Idaghdour2, Vanessa Bruat2, Virginie Saillour2, Jasmine Healy2, Jean-Christophe Grenier2, Thibault de Malliard2, Stephan Busche4, Jean- François Spinella2, Mathieu Larivière2, Greg Gibson5, Anna Andersson6, Linda Holmfeldt6, Jing Ma6, Lei Wei6, Jinghui Zhang7, Gregor Andelfinger2,3, James R. Downing6, Charles G. Mullighan6, Philip Awadalla2,3* 1Departement of Biochemistry, Faculty of Medicine, University of Montreal, Canada 2Ste-Justine Hospital Research Centre, Montreal, Canada 3Department of Pediatrics, Faculty of Medicine, University of Montreal, Canada 4Department of Human Genetics, McGill University, Montreal, Canada 5Center for Integrative Genomics, School of Biology, Georgia Institute of Technology, Atlanta, Georgia, USA 6Department of Pathology, St. Jude Children's Research Hospital, Memphis, Tennessee, USA 7Department of Computational Biology and Bioinformatics, St. Jude Children's Research Hospital, Memphis, Tennessee, USA. *corresponding author : [email protected] SUPPLEMENTARY INFORMATION SUPPLEMENTARY METHODS 2 SUPPLEMENTARY RESULTS 5 SUPPLEMENTARY TABLES 11 Table S1. Coverage and SNPs statistics in the ALL quartet. 11 Table S2. Number of maternal and paternal recombination events per chromosome. 12 Table S3. PRDM9 alleles in the ALL quartet and 12 ALL trios based on read data and re-sequencing. 13 Table S4. PRDM9 alleles in an additional 10 ALL trios with B-ALL children based on read data. 15 Table S5. PRDM9 alleles in 76 French-Canadian individuals. 16 Table S6. B-ALL molecular subtypes for the 24 patients included in this study. 17 Table S7. PRDM9 alleles in 50 children from SJDALL cohort based on read data. 18 Table S8: Most frequent translocations and fusion genes in ALL.
    [Show full text]
  • 15Q26 Deletions FTNW
    15q26 deletions rarechromo.org Sources 15q26 deletions The information in this A 15q26 deletion is a genetic condition that occurs when guide is drawn partly from there is a small piece of genetic material (DNA) missing 41 cases in the published from one of the 46 chromosomes – chromosome 15. The medical literature and genetic change usually affects development, growth, other relevant papers feeding, and sometimes health as well. But how much it (Roback 1991; Tönnies affects individuals, and the ways in which it affects them, 2001; Okubo 2003; Biggio can vary a lot. 2004; Dorkins 2004; Bhakta 2005; Castiglia 2005; Le Genes and chromosomes Caignec 2005; Pinson 2005; Our bodies are made up of trillions of cells. Most of the Slavotinek 2005; Slavotinek cells contain a set of around 20,000 different genes; this 2006; Klaassens 2005; genetic information tells the body how to develop, grow and Klaassens 2007; Poot 2007; function. Genes are carried on structures called Clugston 2008; Davidsson chromosomes. Chromosomes usually come in pairs, one 2008; Lurie 2008; chromosome from each parent. Of the 46 chromosomes, Walenkamp 2008; Li 2008; two are a pair of sex chromosomes: (two Xs for a girl and Ester 2009; Veredice 2009; an X and a Y for a boy). The remaining 44 chromosomes are Bruce 2010; Lin 2010; grouped into 22 pairs and are numbered 1 to 22, Veenma 2010; Wat 2010; approximately from largest to smallest. These are called Choi 2011; Dateki 2011; autosomes. Each chromosome has a short (p) arm (from Dhamija 2011; Rudaks petit, the French for small) and a long (q) arm (see 2011; Capelli 2012; Poot diagram, page 3).
    [Show full text]
  • Receptor Signaling Through Osteoclast-Associated Monocyte
    Downloaded from http://www.jimmunol.org/ by guest on September 29, 2021 is online at: average * The Journal of Immunology The Journal of Immunology , 20 of which you can access for free at: 2015; 194:3169-3179; Prepublished online 27 from submission to initial decision 4 weeks from acceptance to publication February 2015; doi: 10.4049/jimmunol.1402800 http://www.jimmunol.org/content/194/7/3169 Collagen Induces Maturation of Human Monocyte-Derived Dendritic Cells by Signaling through Osteoclast-Associated Receptor Heidi S. Schultz, Louise M. Nitze, Louise H. Zeuthen, Pernille Keller, Albrecht Gruhler, Jesper Pass, Jianhe Chen, Li Guo, Andrew J. Fleetwood, John A. Hamilton, Martin W. Berchtold and Svetlana Panina J Immunol cites 43 articles Submit online. Every submission reviewed by practicing scientists ? is published twice each month by Submit copyright permission requests at: http://www.aai.org/About/Publications/JI/copyright.html Author Choice option Receive free email-alerts when new articles cite this article. Sign up at: http://jimmunol.org/alerts http://jimmunol.org/subscription Freely available online through http://www.jimmunol.org/content/suppl/2015/02/27/jimmunol.140280 0.DCSupplemental This article http://www.jimmunol.org/content/194/7/3169.full#ref-list-1 Information about subscribing to The JI No Triage! Fast Publication! Rapid Reviews! 30 days* Why • • • Material References Permissions Email Alerts Subscription Author Choice Supplementary The Journal of Immunology The American Association of Immunologists, Inc., 1451 Rockville Pike, Suite 650, Rockville, MD 20852 Copyright © 2015 by The American Association of Immunologists, Inc. All rights reserved. Print ISSN: 0022-1767 Online ISSN: 1550-6606.
    [Show full text]
  • Rarechromo.Org
    rarechromo.org 1 Genetic information 15q14 deletions A chromosome 15q14 deletion is a rare genetic condition in which there is a missing (deleted) copy of part of the genetic material that makes up one of the body’s chromosomes - chromosome 15. As with other chromosome disorders, having a missing piece of genetic material may increase the risk of congenital disorders (birth defects), affect the development and intellectual abilities of a child and be associated with a range of other individual features, to a varying degree. It is important to remember that the outcome of having a 15q14 deletion is variable and depends on a number of factors, including what and how much genetic material is deleted. Background on chromosomes Our bodies are made up of trillions of cells. Most of these cells contain a set of around 20,000 genes that carry the set of instructions that tell the body how to develop, grow and function. Genes are carried in structures called chromosomes, which consist of a complex chemical called DNA. Chromosomes (and hence genes) usually come in pairs, one Chromosome pairs 1-22, X and Y inherited from the mother and one from the (male). Chromosome 15 pair circled father. in red Apart from the sex chromosomes (usually two Xs for a girl and an X and a Y for a boy), chromosomes are numbered 1 to 22, approximately from largest to smallest. Looking at chromosome 15 Each chromosome contains millions of base pairs of DNA. Base pairs are the chemicals in DNA that form the ends of the ‘rungs’ of its ladder-like structure.
    [Show full text]
  • (12) Patent Application Publication (10) Pub. No.: US 2011/0196614 A1 Banchereau Et Al
    US 2011 0196614A1 (19) United States (12) Patent Application Publication (10) Pub. No.: US 2011/0196614 A1 Banchereau et al. (43) Pub. Date: Aug. 11, 2011 (54) BLOODTRANSCRIPTIONAL SIGNATURE OF Related U.S. Application Data MYCOBACTERIUMITUBERCULOSS INFECTION (60) Provisional application No. 61/075,728, filed on Jun. 25, 2008. (75) Inventors: Jacques F. Banchereau, Dallas, TX Publication Classification (US); Damien Chaussabel, Bainbridge Island, WA (US); Anne (51) Int. Cl. O'Garra, London (GB); Matthew G06F 9/00 (2011.01) Berry, London (GB); Onn Min GOIN 33/48 (2006.01) Kon, London (GB) (52) U.S. Cl. .......................................................... 702/19 (57) ABSTRACT (73) Assignees: BAYLOR RESEARCH INSTITUTE, Dallas, TX (US); The present invention includes methods, systems and kits for NATIONAL INSTITUTE FOR distinguishing between active and latent mycobacterium MEDICAL RESEARCH, London tuberculosis infection in a patient Suspected of being infected (GB); IMPERIAL COLLEGE with mycobacterium tuberculosis, and distinguishing Such HEALTHCARE NHS TRUST, patients from uninfected individuals, the method including London (GB) the steps of obtaining a gene expression dataset from a whole blood obtained sample from the patient and determining the (21) Appl. No.: 12/602,488 differential expression of one or more transcriptional gene expression modules that distinguish between infected and (22) PCT Fled: Jun. 25, 2009 non-infected patients, wherein the dataset demonstrates an aggregate change in the levels of polynucleotides in the one or (86) PCT NO.: PCT/USO9A48698 more transcriptional gene expression modules as compared to matched non-infected patients, thereby distinguishing S371 (c)(1), between active and latent mycobacterium tuberculosis infec (2), (4) Date: Apr. 25, 2011 tion.
    [Show full text]
  • Genomic Structure of Murine Mitochondrial DNA Polymerase- Gamma
    University of Nebraska Medical Center DigitalCommons@UNMC Journal Articles: Biochemistry & Molecular Biology Biochemistry & Molecular Biology 10-2000 Genomic structure of murine mitochondrial DNA polymerase- gamma. Justin L. Mott University of Nebraska Medical Center, [email protected] Grace Denniger Saint Louis University Steve J. Zullo National Institute of Mental Health H. Peter Zassenhaus Saint Louis University Follow this and additional works at: https://digitalcommons.unmc.edu/com_bio_articles Part of the Medical Biochemistry Commons, and the Medical Molecular Biology Commons Recommended Citation Mott, Justin L.; Denniger, Grace; Zullo, Steve J.; and Zassenhaus, H. Peter, "Genomic structure of murine mitochondrial DNA polymerase-gamma." (2000). Journal Articles: Biochemistry & Molecular Biology. 3. https://digitalcommons.unmc.edu/com_bio_articles/3 This Article is brought to you for free and open access by the Biochemistry & Molecular Biology at DigitalCommons@UNMC. It has been accepted for inclusion in Journal Articles: Biochemistry & Molecular Biology by an authorized administrator of DigitalCommons@UNMC. For more information, please contact [email protected]. DNAANDCELLBIOLOGY Volume19,Number10,2000 MaryAnnLiebert,Inc. Pp.601–605 GenomicStructureofMurineMitochondrial DNAPolymerase-g JUSTINL.MOTT,1 GRACEDENNIGER,1 STEVEJ.ZULLO,2 andH.PETERZASSENHAUS1 ABSTRACT Wehave sequencedagenomiccloneof thegeneencodingthemousemitochondrialDNA polymerase.The geneconsistsof23exons,whichspanapproximately13.2kb,withexonsranginginsizefrom53to768bp.
    [Show full text]