DOCSLIB.ORG

Essential Genetic and Genomic Competencies for Nurses with Graduate Degrees

Total Page：16

File Type：pdf, Size：1020Kb

Download full-text PDF Read full-text
Essential Genetic and Genomic Competencies for Nurses with Graduate Degrees Essential Genetic and Genomic Competencies Established by Consensus Panel September 2011 for Nurses with Graduate Degrees for Nurses ESSENTIAL GENETIC AND GENOMIC COMPETENCIES FOR NURSES WITH GRADUATE DEGREES Karen E. Greco, PhD, RN, ANP-BC, FAAN Susan Tinley, PhD, RN, CGC Diane Seibert, PhD, CRNP, FAANP Established by Consensus Panel September 2011 Library of Congress Cataloging-in-Publication Data Greco, Karen E. Essential genetic and genomic competencies for nurses with graduate degrees / Karen E. Greco, Susan Tinley, Diane Seibert. p. ; cm. Includes bibliographical references. Summary: “Describes and delineates the thirty-eight essential genetic and genomic competencies that inform the practice of all nurses functioning at the graduate level in nursing, summarizes the key documents and processes used to identify these competencies, and identifies the members of the Steering, Advisory, and Consensus Panel committees involved”--Provided by publisher. ISBN 978-1-55810-437-2 -- ISBN 1-55810-437-2 I. Tinley, Susan. II. Seibert, Diane. III. American Nurses Association. IV. International Society of Nurses in Genetics. V. Title. [DNLM: 1. Genetics, Medical--standards--United States. 2. Clinical Competence- -United States. 3. Education, Nursing, Graduate--standards--United States. 4. Genomics--standards--United States. QZ 50] 616’.042--dc23 2011049764 This publication — Essential Genetic and Genomic Competencies for Nurses with Graduate Degrees — reflects the thinking of the nursing profession on various issues and should be reviewed in conjunction with state board of nursing policies and practices. State law, rules, and regulations govern the practice of nursing, while Essential Genetic and Genomic Competencies for Nurses with Graduate Degrees guides nurses in the application of their professional skills and responsibilities. The opinions in this book reflect those of the authors and do not necessarily reflect positions or policies of the American Nurses Association or the International Society of Nurses in the Genetics and Genomics. Furthermore, the information in this book should not be construed as legal or other professional advice. The PDF of this publication is available on the ANA website at http://www.nursingworld.org/MainMenuCategories/EthicsStandards/Genetics-1 and also on the ISONG website at http://www.isong.org/ ©2012 American Nurses Association and International Society of Nurses in Genetics. All rights reserved. Any part of this book may be reproduced or utilized in any form or any means without permission in writing from the publisher. Please, however, cite this publication as the source: Greco, K. E., Tinley, S. & Seibert, D. (2012) Essential Genetic and Genomic Com- petencies for Nurses with Graduate Degrees. Silver Spring, MD: American Nurses Association and International Society of Nurses in Genetics. ISBN-13: 978-1-55810-437-2 Published: March 2012 Table of Contents Steering Committee, Advisory Panel, and Consensus Panel ........ iv Executive Summary ........................................................................ 1 Introduction and Background ....................................................... 2 Purpose and Applicability .............................................................. 3 Definitions ...................................................................................... 3 Development of the Competencies and Process of Consensus ..... 5 Resource/Reference Documents Competency Development and Process of Consensus Endorsement Process ..................................................................... 8 Development of Performance Indicators and Educational Resources ................................................................................. 8 Summary ........................................................................................ 9 Essential Competencies in Genetics and Genomics for Nurses with Graduate Degrees .................................................................. 10 Professional Practice ................................................................ 10 Risk Assessment and Interpretation Genetic Education, Counseling, Testing, and Results Interpretation Clinical Management Ethical, Legal, and Social Implications (ELSI) Professional Responsibilities ..................................................... 12 Professional Role Leadership Research References .................................................................................... 14 Endorsing Organizations .............................................................. 18 Genetic/Genomic Online Resources ............................................ 19 iii Steering Committee, Advisory Committee, and Consensus Panel Steering Committee Members Affiliations Karen E. Greco, PhD, RN, ANP-BC, National Cancer Institute, Center for FAAN Cancer Research, Genetics Branch Susan Tinley, PhD, RN, CGC Creighton University Diane Seibert, PhD, CRNP, FAANP Uniformed Services University Advisory Committee Members Affiliations Kathleen Calzone, PhD, RN, APNG, National Cancer Institute, Center for FAAN Cancer Research, Genetics Branch Jean F. Jenkins, PhD, RN, FAAN National Human Genome Research Institute Carol J. Bickford, PhD, RN-BC, American Nurses Association CPHIMS Quannetta Edwards, PhD, FNP, American Academy of Nurse WHCNP, FAANP Practitioners Suzanne Feetham, PhD, RN, FAAN Children’s National Medical Center & University of Wisconsin, Milwaukee Tracy Klein, PhD, RN, FNP-BC, Oregon State Board of Nursing FAANP Kathy McGuinn, MSN, RN, CPHQ American Association of Colleges of Nursing Karen Pehrson, MS, PMHCNS-BC Sigma Theta Tau International Cynthia A. Prows, MSN, CNS, FAAN Cincinnati Children’s Hospital Medical Center Jo Ellen Rust, MSN, RN, CNS National Association of Clinical Nurse Specialists Elizabeth Thomson, DNSc, MSN, National Human Genome Research RN, CGC, FAAN Institute Janet K. Williams, PhD, RN, PNP, University of Iowa FAAN iv *Consensus Panel Members Affiliations Michelle Beauchesne, DNSc, RN, National Association of Pediatric CPNP, FNAP, FAANP Nurse Practitioners Linda Callahan, PhD, CRNA, American Association of Nurse PMHNP Anesthetists Duck-Hee Kang, PhD, RN, FAAN Asian American/Pacific Islander Nurses Association Carole Kenner, PhD, NNP, RNC- Council of International Neonatal NIC, FAAN Nurses Elizabeth A. Kostas-Polston, PhD, National Association of Nurse APRN, WHNP-BC Practitioners in Women’s Health Ann Maradiegue, PhD, FNP-BC, National Organization of Nurse FAANP Practitioner Faculties Carrie Merkle, PhD, RN, FAAN American Academy of Nursing, Genetic Health Care Expert Panel Carmen T. Paniagua, EdD, RN, CPC, National Association of Hispanic ACNP-BC, APNG, FAANP Nurses Nancy Roehnelt, PhD, NP-BC Oncology Nursing Society Barbara M. Raudonis, PhD, RN, National Gerontological Nursing FNGNA, FPCN Association Lynneece Rooney, MSN, CNM, American College of Nurse- RNC-OB Midwives Catherine Ruhl, MS, CNM Association of Women’s Health, Obstetric and Neonatal Nurses Kathleen Sparbel, PhD, RN, FNP-BC International Society of Nurses in Genetics Ida Johnson-Spruill, PhD, RN, LISW, National Black Nurses Association FAAN Lois A. Tully, PhD National Institute of Nursing Research Mary Weber, PhD, APRN, PMHNP- International Society of Psychiatric- BC Mental Health Nurses *The Consensus Panel also includes the Steering Committee and Advisory Board members v vi Executive Summary Genetic and genomic scientific advances are redefining our understand- ing of health and illness, necessitating a concomitant shift in graduate nursing education and practice. The primary purpose of this document is to identify essential genetic and genomic competencies for individu- als prepared at the graduate level in nursing. These competencies ap- ply to anyone functioning at the graduate level in nursing, including but not limited to advanced practice registered nurses (APRNs), clinical nurse leaders, nurse educators, nurse administrators, and nurse scien- tists. These competencies complement existing nursing competencies and standards of practice and are intended to incorporate genetics and genomics into all clinical and non-clinical nursing roles. They build on the Essentials of Genetic and Genomic Nursing: Competencies, Curri- cula Guidelines and Outcome Indicators (Consensus Panel, 2009) and assume that nurses with graduate degrees have already achieved those core competencies. Because the APRN role has a different legal scope of practice than that of other nurses with graduate degrees, some com- petencies have been identified as unique to APRNs. The 38 competencies are organized under the following major catego- ries: 1. Risk Assessment and Interpretation 2. Genetic Education, Counseling, Testing, and Results Interpretation 3. Clinical Management 4. Ethical, Legal, and Social Implications (ELSI) 5. Professional Role 6. Leadership 7. Research 1 Introduction and Background Genetic and genomic scientific advances are redefining our under- standing of health and illness. Many common health conditions have been identified as having a genetic and/or genomic component, and mounting evidence supports that these multifactorial conditions result from the interactions of multiple genes and environmental, lifestyle, and other factors (Guttmacher, Collins, & Drazen, 2004). Hundreds of genetic tests are now available which can identify individu- als who carry one or more gene mutations associated with an increased risk of developing common health conditions. Increased availability of genetic testing and consumer access to this testing over the
Load more

Recommended publications
  • Application of CRISPR Genetic Screens to Investigate Neurological Diseases
    Application of CRISPR genetic screens to investigate neurological diseases The MIT Faculty has made this article openly available. Please share how this access benefits you. Your story matters. Citation So, Raphaella W.L., et al. "Application of CRISPR genetic screens to investigate neurological diseases." Molecular Neurodegeneration 14 (2019): 41. https://doi.org/10.1186/s13024-019-0343-3 As Published https://doi.org/10.1186/s13024-019-0343-3 Publisher BioMed Central Version Final published version Citable link https://hdl.handle.net/1721.1/126106 Terms of Use Creative Commons Attribution Detailed Terms https://creativecommons.org/licenses/by/4.0/ So et al. Molecular Neurodegeneration (2019) 14:41 https://doi.org/10.1186/s13024-019-0343-3 REVIEW Open Access Application of CRISPR genetic screens to investigate neurological diseases Raphaella W. L. So1,2, Sai Wai Chung1, Heather H. C. Lau1,2, Jeremy J. Watts3, Erin Gaudette1, Zaid A. M. Al-Azzawi1, Jossana Bishay1, Lilian Tsai-Wei Lin1,2, Julia Joung4,5, Xinzhu Wang1,2 and Gerold Schmitt-Ulms1,2* Abstract The adoption of CRISPR-Cas9 technology for functional genetic screens has been a transformative advance. Due to its modular nature, this technology can be customized to address a myriad of questions. To date, pooled, genome- scale studies have uncovered genes responsible for survival, proliferation, drug resistance, viral susceptibility, and many other functions. The technology has even been applied to the functional interrogation of the non-coding genome. However, applications of this technology to neurological diseases remain scarce. This shortfall motivated the assembly of a review that will hopefully help researchers moving in this direction find their footing.
    [Show full text]
  • Perspectives
    Copyright Ó 2010 by the Genetics Society of America DOI: 10.1534/genetics.109.112938 Perspectives Anecdotal, Historical and Critical Commentaries on Genetics The Impact of Whole Genome Sequencing on Model System Genetics: Get Ready for the Ride Oliver Hobert Columbia University Medical Center, Howard Hughes Medical Institute, New York, New York 10032 ABSTRACT Much of our understanding of how organisms develop and function is derived from the extraordinarily powerful, classic approach of screening for mutant organisms in which a specific biological process is disrupted. Reaping the fruits of such forward genetic screens in metazoan model systems like Drosophila, Caenorhabditis elegans, or zebrafish traditionally involves time-consuming positional cloning strategies that result in the identification of the mutant locus. Whole genome sequencing (WGS) has begun to provide an effective alternative to this approach through direct pinpointing of the molecular lesion in a mutated strain isolated from a genetic screen. Apart from significantly altering the pace and costs of genetic analysis, WGS also provides new perspectives on solving genetic problems that are difficult to tackle with conventional approaches, such as identifying the molecular basis of multigenic and complex traits. ENETIC model systems, from bacteria, yeast, regulatory elements) or chemical mutagens, such as G plants, worms, flies, and fish to mice allow the ethyl methane sulfonate (EMS) or N-ethyl N-nitroso dissection of the genetic basis of virtually any biological urea (ENU), that introduce point mutations or dele- process by isolating mutants obtained through random tions. Point mutation-inducing chemical mutagens are mutagenesis, in which the biological process under in many ways a superior mutagenic agent because their investigation is defective.
    [Show full text]
  • A Gene Expression Screen (Cdna Subtraction/Amphibian Metamorphosis/Tail Resorption/Gene Expression/Thyroid Hormone) ZHOU WANG and DONALD D
    Proc. Natl. Acad. Sci. USA Vol. 88, pp. 11505-11509, December 1991 Developmental Biology A gene expression screen (cDNA subtraction/amphibian metamorphosis/tail resorption/gene expression/thyroid hormone) ZHOU WANG AND DONALD D. BROWN Department of Embryology, Carnegie Institution of Washington, 115 West University Parkway, Baltimore, MD 21210 Contributed by Donald D. Brown, September 30, 1991 ABSTRACT A gene expression screen identifies mRNAs tions and modifications of subtractive library methodology, that differ in abundance between two mRNA mixtures by a more recently incorporating PCR technology (9-13). subtractive hybridization method. The two mRNA populations This paper describes a subtractive library method that is are converted to double-stranded cDNAs, fragmented, and analogous to a genetic screen in the sense that it can estimate ligated to linkers for polymerase chain reaction (PCR) ampli- the number of, and therefore lead to the isolation of, virtually fication. The multiple cDNA fragments isolated from any given all up- and down-regulated genes. gene can be treated as alleles in a genetic screen. Probability The gene expression screen is applied here to thyroid analysis of the frequency with which multiple alleles are found hormone-induced tadpole tail regression, the final change in provides an estimation of the total number of up- and down- amphibian metamorphosis, which occurs at metamorphic regulated genes. We have applied this method to genes that are "climax" when the endogenous thyroid hormone is at its differentially expressed in amphibian tadpole tail tissue in the highest level (14). Tail resorption is genetically programmed first 24 hr after thyroid hormone treatment, which ultimately and cell-autonomous (15).
    [Show full text]
  • A Genetic Screen Identifies Cellular Factors Involved in Retroviral -1 Frameshifting (Translation/CUP1/IFSI/Paromomycin)
    Proc. Natl. Acad. Sci. USA Vol. 92, pp. 6587-6591, July 1995 Biochemistry A genetic screen identifies cellular factors involved in retroviral -1 frameshifting (translation/CUP1/IFSI/paromomycin) SUSANNA I. LEE*, JAMES G. UMENt, AND HAROLD E. VARMUS*t# Departments of *Microbiology and Immunology and tBiochemistry and Biophysics, University of California, San Francisco, CA 94143 Contributed by Harold E. Varmus, February 17, 1995 ABSTRACT To identify cellular factors that function in gene causes increased frameshifting and a decrease in trans- -1 ribosomal frameshifting, we have developed assays in the lational fidelity in response to antibiotics that target the 40S yeast Saccharomyces cerevisiae to screen for host mutants in ribosomal subunit. which frameshifting is specifically affected. Expression vec- tors have been constructed in which the mouse mammary tumor virus gag-pro frameshift region is placed upstream of MATERIALS AND METHODS the lacZ gene or the CUPI gene so that the reporters are in the Yeast Strains and Genetic Methods. Saccharomyces cerevi- -1 frame relative to the initiation codon. These vectors have siae strains used in this study are listed in Table 1. been used to demonstrate that -1 frameshifting is recapitu- The numbering of the MMTV sequence is reported here lated in yeast in response to retroviral mRNA signals. Using with the first A residue of the heptanucleotide shifty site these reporters, we have isolated spontaneous host mutants in designated + 1. The CUP1 reporter plasmid contained nt -17 two complementation groups, ifsl and ifs2, in which frame- to +68 of MMTV inserted into the Kpn I site of pGM14 shifting is increased 2-fold.
    [Show full text]
  • DISCERN-Genetics: Quality Criteria for Information on Genetic Testing
    European Journal of Human Genetics (2006) 14, 1179–1188 & 2006 Nature Publishing Group All rights reserved 1018-4813/06 $30.00 www.nature.com/ejhg ARTICLE DISCERN-Genetics: quality criteria for information on genetic testing Sasha Shepperd*,1, Peter Farndon2, Vivian Grainge3, Sandy Oliver4, Michael Parker5, Rafael Perera3, Helen Bedford6, David Elliman7, Alastair Kent8 and Peter Rose3 1Department of Public Health, University of Oxford, Headington, Oxford, UK; 2NHS National Genetics Education and Development Centre, Norton Court, Birmingham Women’s Hospital, Edgbaston, Birmingham, UK; 3Department of Primary Care, University of Oxford, Headington, Oxford, UK; 4Institute of Education, University of London, London, UK; 5Department of Public Health, The Ethox Centre, University of Oxford, Oxford, UK; 6Centre for Epidemiology and Biostatistics, Institute of Child Health, London, UK; 7Great Ormond Street Hospital, London, UK; 8Genetic Interest Group, Unit 4D, London, UK Information currently available to the public is inadequate to support those deciding to consent to a genetic test. As genetic knowledge continues to evolve, more people will be forced to consider the complex issues raised by genetic testing. We developed and tested criteria to guide the production and appraisal of information resources produced for the public on genetic testing. Lay people with and without experience of a genetic condition, and providers and producers of health information appraised and listed the criteria they used to rate the quality of a sample of information on cystic fibrosis, Down’s syndrome, familial breast cancer, familial colon cancer, haemochromatosis, Huntington’s disease, sickle cell disease, and thalassaemia. These genetic conditions represent different populations, disease pathways, and treatment decisions.
    [Show full text]
  • A Genetic Screen Implicates a CWC16/Yju2/CCDC130 Protein and SMU1 in Alternative Splicing in Arabidopsis Thaliana
    Downloaded from rnajournal.cshlp.org on September 26, 2021 - Published by Cold Spring Harbor Laboratory Press 1 A genetic screen implicates a CWC16/Yju2/CCDC130 protein and SMU1 in alternative splicing in Arabidopsis thaliana Tatsuo Kanno, Wen-Dar Lin, Jason L. Fu, Antonius J.M. Matzke and Marjori Matzke Institute of Plant and Microbial Biology, Academia Sinica, 128, Sec. 2, Academia Road, Nangang District, Taipei 115, Taiwan Running head: CWC16 and SMU1 in alternative splicing in plants Key words: alternative splicing, CWC16, SmF, SMU1, Yju2 Corresponding authors: Marjori Matzke Antonius Matzke Institute of Plant and Microbial Biology, Academia Sinica, 128, Sec. 2, Academia Road, Nangang District, Taipei 115, Taiwan Tel: +886-2787-1135 Email: [email protected] [email protected] Downloaded from rnajournal.cshlp.org on September 26, 2021 - Published by Cold Spring Harbor Laboratory Press 2 Abstract (248 words) To identify regulators of pre-mRNA splicing in plants, we developed a forward genetic screen based on an alternatively-spliced GFP reporter gene in Arabidopsis thaliana. In wild-type plants, three major splice variants issue from the GFP gene but only one represents a translatable GFP mRNA. Compared to wild-type seedlings, which exhibit an intermediate level of GFP expression, mutants identified in the screen feature either a ‘GFP-weak’ or ‘Hyper-GFP’ phenotype depending on the ratio of the three splice variants. GFP-weak mutants, including previously identified prp8 and rtf2, contain a higher proportion of unspliced transcript or canonically-spliced transcript, neither of which is translatable into GFP protein. By contrast, the coilin-deficient hyper-gfp1 (hgf1) mutant displays a higher proportion of translatable GFP mRNA, which arises from enhanced splicing a U2-type intron with non-canonical AT-AC splice sites.
    [Show full text]
  • Forward and Reverse Genetic Approaches for the Analysis of Vertebrate Development in the Zebrafish
    Developmental Cell Perspective Forward and Reverse Genetic Approaches for the Analysis of Vertebrate Development in the Zebrafish Nathan D. Lawson1,* and Scot A. Wolfe1,2,* 1Program in Gene Function and Expression 2Department of Biochemistry and Molecular Pharmacology University of Massachusetts Medical School, Worcester, MA 01605, USA *Correspondence: [email protected] (N.D.L.), [email protected] (S.A.W.) DOI 10.1016/j.devcel.2011.06.007 The development of facile forward and reverse genetic approaches has propelled the deconvolution of gene function in biology. While the origins of these techniques reside in the study of single-cell or invertebrate organisms, in many cases these approaches have been applied to vertebrate model systems to gain powerful insights into gene function during embryonic development. This perspective provides a summary of the major forward and reverse genetic approaches that have contributed to the study of vertebrate gene function in zebrafish, which has become an established model for the study of animal development. Introduction et al., 1996; Haffter et al., 1996). Subsequently, the recent explo- Historically, geneticists have relied on the identification of sion of genomic resources has precipitated the need for com- mutant phenotypes to define and dissect a particular pathway plementary reverse genetic approaches to directly interrogate or process without a priori knowledge of the genes involved. genes and pathways of interest. As with other models founded Indeed, early application of this forward genetic approach in largely on their amenability to forward genetics (e.g., C. elegans, bacteriophage, bacteria, and other microorganisms established Drosophila), developing reverse genetic approaches for zebra- the relationship between genes and enzymes, defined gene fish initially proved challenging.
    [Show full text]
  • A Genetic Screen to Identify New Molecular Players Involved in Photoprotection Qh in Arabidopsis Thaliana
    plants Article A Genetic Screen to Identify New Molecular Players Involved in Photoprotection qH in Arabidopsis thaliana Pierrick Bru , Sanchali Nanda and Alizée Malnoë * Umeå Plant Science Centre, Department of Plant Physiology, Umeå University, 901 87 Umeå, Sweden; [email protected] (P.B.); [email protected] (S.N.) * Correspondence: [email protected] Received: 1 October 2020; Accepted: 11 November 2020; Published: 13 November 2020 Abstract: Photosynthesis is a biological process which converts light energy into chemical energy that is used in the Calvin–Benson cycle to produce organic compounds. An excess of light can induce damage to the photosynthetic machinery. Therefore, plants have evolved photoprotective mechanisms such as non-photochemical quenching (NPQ). To focus molecular insights on slowly relaxing NPQ processes in Arabidopsis thaliana, previously, a qE-deficient line—the PsbS mutant—was mutagenized and a mutant with high and slowly relaxing NPQ was isolated. The mutated gene was named suppressor of quenching 1, or SOQ1, to describe its function. Indeed, when present, SOQ1 negatively regulates or suppresses a form of antenna NPQ that is slow to relax and is photoprotective. We have now termed this component qH and identified the plastid lipocalin, LCNP, as the effector for this energy dissipation mode to occur. Recently, we found that the relaxation of qH1, ROQH1, protein is required to turn off qH. The aim of this study is to identify new molecular players involved in photoprotection qH by a whole genome sequencing approach of chemically mutagenized Arabidopsis thaliana. We conducted an EMS-mutagenesis on the soq1 npq4 double mutant and used chlorophyll fluorescence imaging to screen for suppressors and enhancers of qH.
    [Show full text]
  • A Genetic Screen for Mutations That Disrupt an Auditory Response in Drosophila Melanogaster
    Proc. Natl. Acad. Sci. USA Vol. 94, pp. 14837–14842, December 1997 Neurobiology A genetic screen for mutations that disrupt an auditory response in Drosophila melanogaster DANIEL F. EBERL*, GEOFFREY M. DUYK†‡, AND NORBERT PERRIMON† Department of Genetics and †Howard Hughes Medical Institute, Harvard Medical School, 200 Longwood Avenue, Boston, MA 02115 Communicated by Anthony P. Mahowald, University of Chicago, Chicago, IL, November 3, 1997 (received for review March 9, 1997) ABSTRACT Hearing is one of the last sensory modalities useful to the organism, the information from the sensory cells to be subjected to genetic analysis in Drosophila melanogaster. and other relevant information is assimilated in the central We describe a behavioral assay for auditory function involving nervous system, where an appropriate response is initiated. courtship among groups of males triggered by the pulse Our understanding of the Drosophila auditory system comes component of the courtship song. In a mutagenesis screen for from several decades of work on courtship. Wing-generated mutations that disrupt the auditory response, we have recov- auditory cues are involved in courtship, along with visual, ered 15 mutations that either reduce or abolish this response. olfactory, gustatory, and tactile signals (see ref. 5 for review). Mutant audiograms indicate that seven mutants reduced the Three components of auditory communication have been amplitude of the response at all intensities. Another seven identified. The main component, the pulse song (6–8) that the abolished the response altogether. The other mutant, 5L3, male produces with his outstretched wing, consists of bursts of responded only at high sound intensities, indicating that the pulses with a mean interpulse interval of '34 ms (Fig.
    [Show full text]
  • Genetics on the Fly: a Primer on the Drosophila Model System
    GENETICS | PRIMER Genetics on the Fly: A Primer on the Drosophila Model System Karen G. Hales,*,1 Christopher A. Korey,† Amanda M. Larracuente,‡ and David M. Roberts§ *Department of Biology, Davidson College, Davidson North Carolina 28035, †Biology Department, College of Charleston, Charleston, South Carolina 29424, ‡Department of Biology, University of Rochester, Rochester, New York 14627, and §Biology Department, Franklin and Marshall College, Lancaster, Pennsylvania 17604 ABSTRACT Fruit flies of the genus Drosophila have been an attractive and effective genetic model organism since Thomas Hunt Morgan and colleagues made seminal discoveries with them a century ago. Work with Drosophila has enabled dramatic advances in cell and developmental biology, neurobiology and behavior, molecular biology, evolutionary and population genetics, and other fields. With more tissue types and observable behaviors than in other short-generation model organisms, and with vast genome data available for many species within the genus, the fly’s tractable complexity will continue to enable exciting opportunities to explore mechanisms of complex developmental programs, behaviors, and broader evolutionary questions. This primer describes the organism’s natural history, the features of sequenced genomes within the genus, the wide range of available genetic tools and online resources, the types of biological questions Drosophila can help address, and historical milestones. KEYWORDS Drosophila; development; comparative genomics; model organism; TABLE OF CONTENTS
    [Show full text]
  • Forward and Reverse Genetic Approaches to the Analysis of Eye Development in Zebrafish
    View metadata, citation and similar papers at core.ac.uk brought to you by CORE provided by Elsevier - Publisher Connector Vision Research 42 (2002) 527–533 www.elsevier.com/locate/visres Forward and reverse genetic approaches to the analysis of eye development in zebrafish Jarema J. Malicki a,*, Zac Pujic a, Christine Thisse b, Bernard Thisse b, Xiangyun Wei a a Department of Ophthalmology, Harvard Medical School, 243 Charles Street, Boston, MA 02110, USA b IGBMC/CNRS/INSERM/ULP, 1rue Laurent Fries, CU de Strasbourg, Cedex Illkirch 67404, France Received 14 May 2001; received in revised form 25 May 2001 Abstract The zebrafish has been established as a mainstream research system, largely due to the immense success of genetic screens. Over 2000 mutant alleles affecting zebrafish’s early development have been isolated in two large-scale morphological screens and several smaller efforts. So far, over 50 mutant strains display retinal defects and many more have been shown to affect the retinotectal projection. More recently, mutant isolation and characterization have been successfully followed by candidate and positional cloning of underlying genes. To supplement forward genetic mutational analysis, several reverse genetic techniques have also been developed. These recent advances, combined with the genome project, have established the zebrafish as one of the leading models for studies of visual system development. Ó 2002 Elsevier Science Ltd. All rights reserved. Keywords: Zebrafish; Mutagenesis; Screen; Positional cloning; Antisense; Knockdown 1. Forward genetic analysis embryos (Baier et al., 1996; Malicki et al., 1996; Li & Dowling, 1997). A rich repertoire of techniques is The hallmark of forward genetic analysis is a muta- currently available to search for mutant phenotypes genesis screen (Fig.
    [Show full text]
  • The Art and Design of Genetic Screens: Drosophila Melanogaster
    REVIEWS THE ART AND DESIGN OF GENETIC SCREENS: DROSOPHILA MELANOGASTER Daniel St Johnston The success of Drosophila melanogaster as a model organism is largely due to the power of forward genetic screens to identify the genes that are involved in a biological process. Traditional screens, such as the Nobel-prize-winning screen for embryonic-patterning mutants, can only identify the earliest phenotype of a mutation. This review describes the ingenious approaches that have been devised to circumvent this problem: modifier screens, for example, have been invaluable for elucidating signal-transduction pathways, whereas clonal screens now make it possible to screen for almost any phenotype in any cell at any stage of development. POLYTENE CHROMOSOME The fruitfly Drosophila melanogaster has been one of An unfortunate feature of genetic model organisms A giant chromosome that is the favourite model organisms of geneticists, since is that the easier they are to work with, the worse they formed by many rounds of Thomas Hunt Morgan decided to use it to investigate are as models for the animal that most funding agencies replication of the DNA. The the chromosomal theory of inheritance at the begin- find most interesting, namely ourselves. In this respect, replicated DNA molecules 1 tightly align side-by-side in ning of the last century . Morgan chose Drosophila however, Drosophila provides a very happy compro- parallel register, which creates a because it is easy and cheap to rear in the laboratory, mise. A surprisingly large number of developmental non-mitotic chromosome that is has a ten-day generation time and produces many processes seem to be conserved between flies visible by light microscopy.
    [Show full text]