Reverse Mutation = a Change That Restores the Wild-Type Allele (A.K.A
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Sumoylation Regulates Protein Dynamics During Meiotic Chromosome Segregation in C
© 2019. Published by The Company of Biologists Ltd | Journal of Cell Science (2019) 132, jcs232330. doi:10.1242/jcs.232330 RESEARCH ARTICLE Sumoylation regulates protein dynamics during meiotic chromosome segregation in C. elegans oocytes Federico Pelisch*, Laura Bel Borja, Ellis G. Jaffray and Ronald T. Hay ABSTRACT studies of MT-dependent chromosome movement focused on Oocyte meiotic spindles in most species lack centrosomes and pulling forces generated by kinetochore MTs (kMTs) making the mechanisms that underlie faithful chromosome segregation end-on contacts with chromosomes (Cheeseman, 2014), there is in acentrosomal meiotic spindles are not well understood. In also evidence for pushing forces that are exerted on the segregating C. elegans oocytes, spindle microtubules exert a poleward force on chromosomes (Khodjakov et al., 2004; Nahaboo et al., 2015; š ́ chromosomes that is dependent on the microtubule-stabilising Laband et al., 2017; Vuku ic et al., 2017; Yu et al., 2019 preprint). protein CLS-2, the orthologue of the mammalian CLASP proteins. The nematode Caenorhabditis elegans contains holocentric The checkpoint kinase BUB-1 and CLS-2 localise in the central chromosomes (Maddox et al., 2004) and has served as an spindle and display a dynamic localisation pattern throughout extremely useful system to uncover mechanisms of meiosis and anaphase, but the signals regulating their anaphase-specific mitosis for almost 20 years (Oegema et al., 2001; Desai et al., 2003; localisation remains unknown. We have shown previously that Cheeseman et al., 2004, 2005; Monen et al., 2005). Meiosis is a SUMO regulates BUB-1 localisation during metaphase I. Here, we specialised cell division with two successive rounds of chromosome found that SUMO modification of BUB-1 is regulated by the SUMO E3 segregation that reduce the ploidy and generates haploid gametes ligase GEI-17 and the SUMO protease ULP-1. -
The Economic Impact and Functional Applications of Human Genetics and Genomics
The Economic Impact and Functional Applications of Human Genetics and Genomics Commissioned by the American Society of Human Genetics Produced by TEConomy Partners, LLC. Report Authors: Simon Tripp and Martin Grueber May 2021 TEConomy Partners, LLC (TEConomy) endeavors at all times to produce work of the highest quality, consistent with our contract commitments. However, because of the research and/or experimental nature of this work, the client undertakes the sole responsibility for the consequence of any use or misuse of, or inability to use, any information or result obtained from TEConomy, and TEConomy, its partners, or employees have no legal liability for the accuracy, adequacy, or efficacy thereof. Acknowledgements ASHG and the project authors wish to thank the following organizations for their generous support of this study. Invitae Corporation, San Francisco, CA Regeneron Pharmaceuticals, Inc., Tarrytown, NY The project authors express their sincere appreciation to the following indi- viduals who provided their advice and input to this project. ASHG Government and Public Advocacy Committee Lynn B. Jorde, PhD ASHG Government and Public Advocacy Committee (GPAC) Chair, President (2011) Professor and Chair of Human Genetics George and Dolores Eccles Institute of Human Genetics University of Utah School of Medicine Katrina Goddard, PhD ASHG GPAC Incoming Chair, Board of Directors (2018-2020) Distinguished Investigator, Associate Director, Science Programs Kaiser Permanente Northwest Melinda Aldrich, PhD, MPH Associate Professor, Department of Medicine, Division of Genetic Medicine Vanderbilt University Medical Center Wendy Chung, MD, PhD Professor of Pediatrics in Medicine and Director, Clinical Cancer Genetics Columbia University Mira Irons, MD Chief Health and Science Officer American Medical Association Peng Jin, PhD Professor and Chair, Department of Human Genetics Emory University Allison McCague, PhD Science Policy Analyst, Policy and Program Analysis Branch National Human Genome Research Institute Rebecca Meyer-Schuman, MS Human Genetics Ph.D. -
Genetic Risk Assessment and BRCA Mutation Testing for Breast and Ovarian Cancer Susceptibility: Evidence Synthesis
Evidence Synthesis Number 37 Genetic Risk Assessment and BRCA Mutation Testing for Breast and Ovarian Cancer Susceptibility: Evidence Synthesis Prepared for: Agency for Healthcare Research and Quality U.S. Department of Health and Human Services 540 Gaither Road Rockville, MD 20850 www.ahrq.gov Contract No. 290-02-0024 Task Order No. 2 Technical Support of the U.S. Preventive Services Task Force Prepared by: Oregon Evidence-based Practice Center Portland, Oregon Investigators Heidi D. Nelson, MD, MPH Laurie Hoyt Huffman, MS Rongwei Fu, PhD Emily L. Harris, PhD, MPH Miranda Walker, BA Christina Bougatsos, BS September 2005 This report may be used, in whole or in part, as the basis of the development of clinical practice guidelines and other quality enhancement tools, or a basis for reimbursement and coverage policies. AHRQ or U.S. Department of Health and Human Services endorsement of such derivative products may not be stated or implied. AHRQ is the lead Federal agency charged with supporting research designed to improve the quality of health care, reduce its cost, address patient safety and medical errors, and broaden access to essential services. AHRQ sponsors and conducts research that provides evidence-based information on health care outcomes; quality; and cost, use, and access. The information helps health care decisionmakers—patients and clinicians, health system leaders, and policymakers—make more informed decisions and improve the quality of health care services. Preface The Agency for Healthcare Research and Quality (AHRQ) sponsors the development of Systematic Evidence Reviews (SERs) and Evidence Syntheses through its Evidence-based Practice Program. With guidance from the U.S. -
Polymerase Chain Reaction Technique: Fundamental Aspects and Applications in Clinical Diagnostics
Biotechnology POLYMERASE CHAIN REACTION TECHNIQUE: FUNDAMENTAL ASPECTS AND APPLICATIONS IN CLINICAL DIAGNOSTICS A. S. M. GIASUDDIN* SUMMARY: The polymerase chain reaction (PCR) is a powerful method for the rapid amplification of deoxyribonucleic acid (DNA). The PCR-technique was developed by Dr. K. B. Mullis for which he received the Novel prize in 1993. The PCR-technique employs the enzyme DNA-polymerase to multiply selectively a single molecule of DNA several million folds in a few hours. It is finding a host of applications not only in fundamen- tal molecular biological research, but also in medicine and clinical medicine particularly in clinical diagnos- tics. Key Words: Polymerase chain reaction. INTRODUCTION The term polymerase chain reaction (PCR) is in Excellent reviews and specialist papers on PCR everyday use now in the vocabulary of molecular biolo- and its applications abound, but the authors of these gists. The first published account of the PCR-technique papers usually assume a familiarity of the reader with came in 1985 through is application to the prenatal molecular biology and its special terminologies and diagnosis of sickle-cell anemia (1). Although received their introduction to the principles of PCR tend to with skeptism in 1985, it is now one of the most wide- become too technical for less specialized readers (3-5). spread methods of analyzing deoxyribonucleic acid Therefore, the main objectives of the present review (DNA). While giving an informative account of the PCR- are to a more general audience of biologists, medical technique, the discoverer of the technique, Dr. K. B. scientists and clinicians. Mullis, said "Sometimes a good idea comes to you when you are not looking for it. -
Genetic Testing Policy Number: PG0041 ADVANTAGE | ELITE | HMO Last Review: 04/11/2021
Genetic Testing Policy Number: PG0041 ADVANTAGE | ELITE | HMO Last Review: 04/11/2021 INDIVIDUAL MARKETPLACE | PROMEDICA MEDICARE PLAN | PPO GUIDELINES This policy does not certify benefits or authorization of benefits, which is designated by each individual policyholder terms, conditions, exclusions and limitations contract. It does not constitute a contract or guarantee regarding coverage or reimbursement/payment. Paramount applies coding edits to all medical claims through coding logic software to evaluate the accuracy and adherence to accepted national standards. This medical policy is solely for guiding medical necessity and explaining correct procedure reporting used to assist in making coverage decisions and administering benefits. SCOPE X Professional X Facility DESCRIPTION A genetic test is the analysis of human DNA, RNA, chromosomes, proteins, or certain metabolites in order to detect alterations related to a heritable or acquired disorder. This can be accomplished by directly examining the DNA or RNA that makes up a gene (direct testing), looking at markers co-inherited with a disease-causing gene (linkage testing), assaying certain metabolites (biochemical testing), or examining the chromosomes (cytogenetic testing). Clinical genetic tests are those in which specimens are examined and results reported to the provider or patient for the purpose of diagnosis, prevention or treatment in the care of individual patients. Genetic testing is performed for a variety of intended uses: Diagnostic testing (to diagnose disease) Predictive -
Genetical and Statistical Aspects of Polymerase Chain Reactions
A Service of Leibniz-Informationszentrum econstor Wirtschaft Leibniz Information Centre Make Your Publications Visible. zbw for Economics Brunnert, Marcus; Müller, Oliver; Urfer, Wolfgang Working Paper Genetical and statistical aspects of polymerase chain reactions Technical Report, No. 2000,06 Provided in Cooperation with: Collaborative Research Center 'Reduction of Complexity in Multivariate Data Structures' (SFB 475), University of Dortmund Suggested Citation: Brunnert, Marcus; Müller, Oliver; Urfer, Wolfgang (2000) : Genetical and statistical aspects of polymerase chain reactions, Technical Report, No. 2000,06, Universität Dortmund, Sonderforschungsbereich 475 - Komplexitätsreduktion in Multivariaten Datenstrukturen, Dortmund This Version is available at: http://hdl.handle.net/10419/77228 Standard-Nutzungsbedingungen: Terms of use: Die Dokumente auf EconStor dürfen zu eigenen wissenschaftlichen Documents in EconStor may be saved and copied for your Zwecken und zum Privatgebrauch gespeichert und kopiert werden. personal and scholarly purposes. Sie dürfen die Dokumente nicht für öffentliche oder kommerzielle You are not to copy documents for public or commercial Zwecke vervielfältigen, öffentlich ausstellen, öffentlich zugänglich purposes, to exhibit the documents publicly, to make them machen, vertreiben oder anderweitig nutzen. publicly available on the internet, or to distribute or otherwise use the documents in public. Sofern die Verfasser die Dokumente unter Open-Content-Lizenzen (insbesondere CC-Lizenzen) zur Verfügung gestellt -
Chapter 3 Characterization of Meiotic Chromosome Organization and the Distribution of Dsbs and Crossovers
UC Berkeley UC Berkeley Electronic Theses and Dissertations Title Quantitative characterization of meiotic chromosome organization Permalink https://escholarship.org/uc/item/5mr0c0kp Author Cheveralls, Keith Charles Publication Date 2016 Peer reviewed|Thesis/dissertation eScholarship.org Powered by the California Digital Library University of California Quantitative characterization of meiotic chromosome organization By Keith Charles Cheveralls A Dissertation submitted in partial satisfaction of the requirements for the degree of Doctor of Philosophy in Biophysics in the Graduate Division of the University of California, Berkeley Committee in charge: Professor Abby F. Dernburg, Chair Professor David Drubin Professor Barbara Meyer Professor Eva Nogales Spring 2016 Abstract Quantitative characterization of meiotic chromosome organization by Keith Charles Cheveralls Doctor of Philosophy in Biophysics University of California, Berkeley Professor Abby F. Dernburg, Chair Sexual reproduction relies on a specialized program of cell division called meiosis to generate haploid gametes from diploid germ cells. In order for chromosome segregation to occur accurately, homologous chromosomes must pair, synapse, and undergo crossover recombination. These physical and biochemical interactions occur in coordination with large-scale reorganization of meiotic chromosomes. To understand the relationship between chromosome organization and the regulation of recombination, we developed an automated image analysis pipeline that combines the throughput of population-based -
Chromosome Microarray Testing (Non-Oncology Conditions)
UnitedHealthcare® Commercial Medical Policy Chromosome Microarray Testing (Non-Oncology Conditions) Policy Number: 2021T0559T Effective Date: October 1, 2021 Instructions for Use Table of Contents Page Related Commercial Policies Coverage Rationale ....................................................................... 1 • Molecular Oncology Testing for Cancer Diagnosis, Documentation Requirements ...................................................... 2 Prognosis, and Treatment Decisions Definitions ...................................................................................... 2 • Preimplantation Genetic Testing Applicable Codes .......................................................................... 2 Description of Services ................................................................. 7 Community Plan Policy Clinical Evidence ........................................................................... 8 • Chromosome Microarray Testing (Non-Oncology U.S. Food and Drug Administration ........................................... 22 Conditions) References ................................................................................... 23 Medicare Advantage Coverage Summary Policy History/Revision Information ........................................... 28 • Genetic Testing Instructions for Use ..................................................................... 28 Coverage Rationale Genome-wide comparative genomic hybridization microarray testing or single nucleotide polymorphism (SNP) chromosomal microarray analysis is -
Spatial Genetic Analysis of Coyotes in New York State
Wildlife Society Bulletin 43(1):21–30; 2019; DOI: 10.1002/wsb.960 Original Article Spatial Genetic Analysis of Coyotes in New York State LEAH K. BERKMAN,1,2 The State University of New York College of Environmental Science and Forestry, 1 Forestry Drive, Syracuse, NY 13210, USA JACQUELINE L. FRAIR, The State University of New York College of Environmental Science and Forestry, 1 Forestry Drive, Syracuse, NY 13210, USA PAULA E. MARQUARDT , U.S. Department of Agriculture Forest Service, Northern Research Station, 5985 Highway K, Rhinelander, WI 54501, USA DEAHN M. DONNER, U.S. Department of Agriculture Forest Service, Northern Research Station, 5985 Highway K, Rhinelander, WI 54501, USA JOHN C. KILGO, U.S. Department of Agriculture Forest Service, Southern Research Station, P.O. Box 700, New Ellenton, SC 29809, USA CHRISTOPHER M. WHIPPS, The State University of New York College of Environmental Science and Forestry, 1 Forestry Drive, Syracuse, NY 13210, USA ABSTRACT The robust dispersal capability of the coyote (Canis latrans) would suggest a pattern of widespread gene flow across North America, yet historical legacies, dispersal barriers, and habitat affinities may produce or reinforce genetic structure. In the northeastern United States, some coyotes carry genetic signatures from past hybridization events with eastern wolves (C. lupus lycaon). These so-called “coywolves” may have differential predation or competitive success compared with the western origin coyotes with whom they share the contemporary landscape. We sampled coyote populations from New York (n ¼ 156) and Wyoming, USA (n ¼ 8) in 2006–2007 and from South Carolina, USA, in 2010 and confirmed regional genetic structure among these coyote populations. -
Contributions of Cytogenetics to Cancer Research
244 Review Article CONTRIBUTIONS OF CYTOGENETICS TO CANCER RESEARCH CONTRIBUIÇÕES DA CITOGENÉTICA EM PESQUISAS SOBRE O CÂNCER Robson José de OLIVEIRA-JUNIOR 1; Luiz Ricardo GOULART FILHO1; Luciana Machado BASTOS 1; Dhiego de Deus ALVES 1; Sabrina Vaz dos SANTOS E SILVA 1, Sandra MORELLI 1 1. Instituto de Genética e Bioquímica, Universidade Federal de Uberlândia, Uberlândia, MG, Brasil. [email protected] ABSTRACT: The two conflicting visions of tumorigenesis that are widely discussed are the gene-mutation hypothesis and the aneuploidy hypothesis. In this review we will summarize the contributions of cytogenetics in the study of cancer cells and propose a hypothetical model to explain the influence of cytogenetic events in carcinogenesis, emphasizing the role of aneuploidy. The gene mutation hypothesis states that gene-specific mutations occur and that they maintain the altered phenotype of the tumor cells, and the aneuploidy hypothesis states that aneuploidy is necessary and sufficient for the initiation and progression of malignant transformation. Aneuploidy is a hallmark of cancer and plays an important role in tumorigenesis and tumor progression. Aneuploid cells might be derived from polyploid cells, which can arise spontaneously or are induced by environmental agents or chemical compounds, and the genetic instability observed in polyploid cells leads to chromosomal losses or rearrangements, resulting in variable aberrant karyotypes. Because of the large amount of evidence indicating that the correct chromosomal balance is crucial to cancer development, cytogenetic techniques are important tools for both basic research, such as elucidating carcinogenesis, and applied research, such as diagnosis, prognosis and selection of treatment. The combination of classic cytogenetics, molecular cytogenetics and molecular genetics is essential and can generate a vast amount of data, enhancing our knowledge of cancer biology and improving treatment of this disease. -
BIOLOGY 639 SCIENCE ONLINE the Unexpected Brains Behind Blood Vessel Growth 641 THIS WEEK in SCIENCE 668 U.K
4 February 2005 Vol. 307 No. 5710 Pages 629–796 $10 07%.'+%#%+& 2416'+0(70%6+10 37#06+6#6+8' 51(69#4' #/2.+(+%#6+10 %'..$+1.1); %.10+0) /+%41#44#;5 #0#.;5+5 #0#.;5+5 2%4 51.76+105 Finish first with a superior species. 50% faster real-time results with FullVelocity™ QPCR Kits! Our FullVelocity™ master mixes use a novel enzyme species to deliver Superior Performance vs. Taq -Based Reagents FullVelocity™ Taq -Based real-time results faster than conventional reagents. With a simple change Reagent Kits Reagent Kits Enzyme species High-speed Thermus to the thermal profile on your existing real-time PCR system, the archaeal Fast time to results FullVelocity technology provides you high-speed amplification without Enzyme thermostability dUTP incorporation requiring any special equipment or re-optimization. SYBR® Green tolerance Price per reaction $$$ • Fast, economical • Efficient, specific and • Probe and SYBR® results sensitive Green chemistries Need More Information? Give Us A Call: Ask Us About These Great Products: Stratagene USA and Canada Stratagene Europe FullVelocity™ QPCR Master Mix* 600561 Order: (800) 424-5444 x3 Order: 00800-7000-7000 FullVelocity™ QRT-PCR Master Mix* 600562 Technical Services: (800) 894-1304 Technical Services: 00800-7400-7400 FullVelocity™ SYBR® Green QPCR Master Mix 600581 FullVelocity™ SYBR® Green QRT-PCR Master Mix 600582 Stratagene Japan K.K. *U.S. Patent Nos. 6,528,254, 6,548,250, and patents pending. Order: 03-5159-2060 Purchase of these products is accompanied by a license to use them in the Polymerase Chain Reaction (PCR) Technical Services: 03-5159-2070 process in conjunction with a thermal cycler whose use in the automated performance of the PCR process is YYYUVTCVCIGPGEQO covered by the up-front license fee, either by payment to Applied Biosystems or as purchased, i.e., an authorized thermal cycler. -
The Many Facets of SC Function During C. Elegans Meiosis
Chromosoma DOI 10.1007/s00412-006-0061-9 REVIEW Mónica P. Colaiácovo The many facets of SC function during C. elegans meiosis Received: 7 December 2005 / Revised: 15 February 2006 / Accepted: 16 February 2006 # Springer-Verlag 2006 Abstract Sexually reproducing organisms rely on meiosis halving in chromosome number is the result of one round for the formation of haploid gametes. This is achieved of DNA replication followed by two rounds of cell through two consecutive rounds of cell division (meiosis I division: meiosis I (a reductional division) and meiosis II and II) after one round of DNA replication. During the (an equational division). While meiosis II proceeds meiotic divisions, chromosomes face several challenges to similarly to a mitotic division, unique events unfold during ultimately ensure proper chromosome segregation. Unique meiosis I. In particular, during prophase I, homologous events unfold during meiosis I to overcome these chromosomes have to identify each other and pair, challenges. Homologous chromosomes pair, synapse, and followed by the formation of a proteinaceous structure recombine. A remarkable feature throughout this process is known as the synaptonemal complex (SC) between the formation of an evolutionarily conserved tripartite homologs, and completion of meiotic recombination proteinaceous structure known as the synaptonemal com- leading to physical attachments between homologs. plex (SC). It is comprised of two lateral elements, These events ultimately ensure proper chromosome segre- assembled along each axis of a pair of homologous gation upon the first meiotic division. Succeeding in this chromosomes, and a central region consisting of transverse outcome is crucial given that chromosome nondisjunction filaments bridging the gap between lateral elements.