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The Early History of Medical Genetics in Canada William Leeming OCAD University [email protected]
OCAD University Open Research Repository Faculty of Liberal Arts & Sciences and School of Interdisciplinary Studies 2004 The Early History of Medical Genetics in Canada William Leeming OCAD University [email protected] © Oxford University Press. This is the author's version of the work. It is posted here for your personal use. Not for redistribution. Original source at DOI: 10.1093/shm/17.3.481. Recommended citation: Leeming, W. “The Early History of Medical Genetics in Canada.” Social History of Medicine 17.3 (2004): 481–500. Web. Leeming, W. (2004). The early history of medical genetics in Canada. Social History of Medicine, 17(3), 481-500. Pre-Publication Draft The Early History of Medical Genetics in Canada Abstract: This article shows that the intellectual and specialist movements that supported the growth of medical genetics in Canada between 1947 and 1990 were emergent phenomena, created, split, and reattached to different groups of actors, and reconfigured numerous times over the course of four decades. In each instance, new kinds of working relationships appeared; sets of diverse actors in local university- hospital settings coalesced into a new collectivity; and, as a collectivity, actors defined and/or redefined occupational roles and work rules. In its beginnings, medical genetics appears to be the object of a serious institutional manoeuver: a movement in support of the creation of examining and teaching positions in human genetics in North American medical schools. With time, the institutionalization of ‘medical genetics’ took hold, spurred on by changes in the rate and direction of service delivery associated with genetic consultation and laboratory services in clinical settings. -
Living Being's Finished Arrangement of DNA
e in G net ts ic n E e n g m i e n c e e n r a i v n d g A ISSN: 2169-0111 Advancements in Genetic Engineering Editorial Living Being's Finished Arrangement of DNA Bahman Hosseini* Department of Horticulture, Faculty of Agriculture, Urmia University, Iran INTRODUCTION MS2 coat protein work, deciding the total nucleotide-succession of bacteriophage MS2-RNA (whose genome encodes only four Genomics is an interdisciplinary field of science zeroing in on qualities in 3569 base sets [bp]) and Simian infection 40 out of the construction, work, advancement, planning, and altering of 1976 and 1978, individually. genomes. A genome is a living being's finished arrangement of DNA, including the entirety of its qualities. Rather than Notwithstanding his fundamental work on the amino corrosive hereditary qualities, which alludes to the investigation of arrangement of insulin, Frederick Sanger and his associates individual qualities and their parts in legacy, genomics focuses assumed a vital part in the advancement of DNA sequencing on the aggregate portrayal and evaluation of the entirety of a life strategies that empowered the foundation of thorough genome form's qualities, their interrelations and effect on the creature. sequencing projects. In 1975, he and Alan Coulson distributed a Qualities may coordinate the creation of proteins with the help sequencing methodology utilizing DNA polymerase with of chemicals and courier atoms. Thusly, proteins make up body radiolabelled nucleotides that he called the Plus and Minus designs, for example, organs and tissues just as control synthetic strategy. This elaborate two firmly related strategies that created responses and convey signals between cells. -
A Correlation of Cytological and Genetical Crossing-Over in Zea Mays. PNAS 17:492–497
A CORRELATION OF CYTOLOGICAL AND GENETICAL CROSSING-OVER IN ZEA MAYS HARRIET B. CREIGHTON BARBARA MCCLINTOCK Botany Department Cornell University Ithaca, New York Creighton, H., and McClintock, B. 1931 A correlation of cytological and genetical crossing-over in Zea mays. PNAS 17:492–497. E S P Electronic Scholarly Publishing http://www.esp.org Electronic Scholarly Publishing Project Foundations Series –– Classical Genetics Series Editor: Robert J. Robbins The ESP Foundations of Classical Genetics project has received support from the ELSI component of the United States Department of Energy Human Genome Project. ESP also welcomes help from volunteers and collaborators, who recommend works for publication, provide access to original materials, and assist with technical and production work. If you are interested in volunteering, or are otherwise interested in the project, contact the series editor: [email protected]. Bibliographical Note This ESP edition, first electronically published in 2003 and subsequently revised in 2018, is a newly typeset, unabridged version, based on the 1931 edition published by The National Academy of Sciences. Unless explicitly noted, all footnotes and endnotes are as they appeared in the original work. Some of the graphics have been redone for this electronic version. Production Credits Scanning of originals: ESP staff OCRing of originals: ESP staff Typesetting: ESP staff Proofreading/Copyediting: ESP staff Graphics work: ESP staff Copyfitting/Final production: ESP staff © 2003, 2018 Electronic Scholarly Publishing Project http://www.esp.org This electronic edition is made freely available for educational or scholarly purposes, provided that this copyright notice is included. The manuscript may not be reprinted or redistributed for commercial purposes without permission. -
Introduction and Historical Perspective
Chapter 1 Introduction and Historical Perspective “ Nothing in biology makes sense except in the light of evolution. ” modified by the developmental history of the organism, Theodosius Dobzhansky its physiology – from cellular to systems levels – and by the social and physical environment. Finally, behaviors are shaped through evolutionary forces of natural selection OVERVIEW that optimize survival and reproduction ( Figure 1.1 ). Truly, the study of behavior provides us with a window through Behavioral genetics aims to understand the genetic which we can view much of biology. mechanisms that enable the nervous system to direct Understanding behaviors requires a multidisciplinary appropriate interactions between organisms and their perspective, with regulation of gene expression at its core. social and physical environments. Early scientific The emerging field of behavioral genetics is still taking explorations of animal behavior defined the fields shape and its boundaries are still being defined. Behavioral of experimental psychology and classical ethology. genetics has evolved through the merger of experimental Behavioral genetics has emerged as an interdisciplin- psychology and classical ethology with evolutionary biol- ary science at the interface of experimental psychology, ogy and genetics, and also incorporates aspects of neuro- classical ethology, genetics, and neuroscience. This science ( Figure 1.2 ). To gain a perspective on the current chapter provides a brief overview of the emergence of definition of this field, it is helpful -
Elements of Genetics
GENETICS AND PLANT BREEDING Elements of Genetics Dr. B. M. Prasanna National Fellow Division of Genetics Indian Agricultural Research Institute New Delhi-110012 (12-06- 2007) CONTENTS Introduction History Cell Cell Division Special Chromosomes Dominance Relationships Gene Interactions Multiple Alleles Sex Determination Sex Linkage Linkage and Crossing Over Genetic Mapping Structural Changes in Chromosomes Numerical Changes in Chromosomes Nature of the Genetic Material Gene Regulation Operon Concept Gene Concept Mutation Polygenic and Quantitative Inheritance Extrachromosomal Inheritance Plant Tissue Culture Keywords Mitosis, Meiosis 1 Introduction In biology, heredity is the passing on of characteristics from one generation to the next. It is the reason why offspring look like their parents. It also explains why cats always give birth to kittens and never puppies. The process of heredity occurs among all living organisms, including animals, plants, bacteria, protists and fungi. Genetic variation refers to the variation in a population or species. Genetics is the study of heredity and variation in living organisms. Two research approaches were historically important in helping investigators understand the biological basis of heredity. The first of these approaches, ‘transmission genetics’, involved crossing organisms and studying the offsprings' traits to develop hypotheses about the mechanisms of inheritance. The second approach involved using cytological techniques to study the machinery and processes of cellular reproduction. This approach laid a solid foundation for the more conceptual understanding of inheritance that developed as a result of transmission genetics. Ever since 1970s, with the advent of molecular tools and techniques, geneticists are able to intensively analyze genetic basis of trait variation in various organisms, including plants, animals and humans. -
Chromosomal Theory and Genetic Linkage
362 Chapter 13 | Modern Understandings of Inheritance 13.1 | Chromosomal Theory and Genetic Linkage By the end of this section, you will be able to do the following: • Discuss Sutton’s Chromosomal Theory of Inheritance • Describe genetic linkage • Explain the process of homologous recombination, or crossing over • Describe chromosome creation • Calculate the distances between three genes on a chromosome using a three-point test cross Long before scientists visualized chromosomes under a microscope, the father of modern genetics, Gregor Mendel, began studying heredity in 1843. With improved microscopic techniques during the late 1800s, cell biologists could stain and visualize subcellular structures with dyes and observe their actions during cell division and meiosis. With each mitotic division, chromosomes replicated, condensed from an amorphous (no constant shape) nuclear mass into distinct X-shaped bodies (pairs of identical sister chromatids), and migrated to separate cellular poles. Chromosomal Theory of Inheritance The speculation that chromosomes might be the key to understanding heredity led several scientists to examine Mendel’s publications and reevaluate his model in terms of chromosome behavior during mitosis and meiosis. In 1902, Theodor Boveri observed that proper sea urchin embryonic development does not occur unless chromosomes are present. That same year, Walter Sutton observed chromosome separation into daughter cells during meiosis (Figure 13.2). Together, these observations led to the Chromosomal Theory of Inheritance, which identified chromosomes as the genetic material responsible for Mendelian inheritance. Figure 13.2 (a) Walter Sutton and (b) Theodor Boveri developed the Chromosomal Theory of Inheritance, which states that chromosomes carry the unit of heredity (genes). -
Alfred Henry Sturtevant (1891–1970) [1]
Published on The Embryo Project Encyclopedia (https://embryo.asu.edu) Alfred Henry Sturtevant (1891–1970) [1] By: Gleason, Kevin Keywords: Thomas Hunt Morgan [2] Drosophila [3] Alfred Henry Sturtevant studied heredity in fruit flies in the US throughout the twentieth century. From 1910 to 1928, Sturtevant worked in Thomas Hunt Morgan’s research lab in New York City, New York. Sturtevant, Morgan, and other researchers established that chromosomes play a role in the inheritance of traits. In 1913, as an undergraduate, Sturtevant created one of the earliest genetic maps of a fruit fly chromosome, which showed the relative positions of genes [4] along the chromosome. At the California Institute of Technology [5] in Pasadena, California, he later created one of the firstf ate maps [6], which tracks embryonic cells throughout their development into an adult organism. Sturtevant’s contributions helped scientists explain genetic and cellular processes that affect early organismal development. Sturtevant was born 21 November 1891 in Jacksonville, Illinois, to Harriet Evelyn Morse and Alfred Henry Sturtevant. Sturtevant was the youngest of six children. During Sturtevant’s early childhood, his father taught mathematics at Illinois College in Jacksonville. However, his father left that job to pursue farming, eventually relocating seven-year-old Sturtevant and his family to Mobile, Alabama. In Mobile, Sturtevant attended a single room schoolhouse until he entered a public high school. In 1908, Sturtevant entered Columbia University [7] in New York City, New York. As a sophomore, Sturtevant took an introductory biology course taught by Morgan, who was researching how organisms transfer observable characteristics, such as eye color, to their offspring. -
A Brief History of Genetics
A Brief History of Genetics A Brief History of Genetics By Chris Rider A Brief History of Genetics By Chris Rider This book first published 2020 Cambridge Scholars Publishing Lady Stephenson Library, Newcastle upon Tyne, NE6 2PA, UK British Library Cataloguing in Publication Data A catalogue record for this book is available from the British Library Copyright © 2020 by Chris Rider All rights for this book reserved. No part of this book may be reproduced, stored in a retrieval system, or transmitted, in any form or by any means, electronic, mechanical, photocopying, recording or otherwise, without the prior permission of the copyright owner. ISBN (10): 1-5275-5885-1 ISBN (13): 978-1-5275-5885-4 Cover A cartoon of the double-stranded helix structure of DNA overlies the sequence of the gene encoding the A protein chain of human haemoglobin. Top left is a portrait of Gregor Mendel, the founding father of genetics, and bottom right is a portrait of Thomas Hunt Morgan, the first winner of a Nobel Prize for genetics. To my wife for her many years of love, support, patience and sound advice TABLE OF CONTENTS List of Figures.......................................................................................... viii List of Text Boxes and Tables .................................................................... x Foreword .................................................................................................. xi Acknowledgements ................................................................................. xiii Chapter 1 ................................................................................................... -
Genome Mapping and Genomics in Animals Volume 1
Genome Mapping and Genomics in Animals Volume 1 Series Editor: Chittaranjan Kole Wayne Hunter, Chittaranjan Kole (Editors) Genome Mapping and Genomics in Arthropods With 25 Illustrations, 3 in Color 123 Way n e Hu n t e r Chittaranjan Kole USDA, ARS, United States Department of Genetics & Biochemistry Horticultural Research Laboratory Clemson University 2001 South Rock Road Clemson, SC 29634 Fort Pierce, FL 34945 USA USA e-mail: [email protected] e-mail: [email protected] ISBN 978-3-540-73832-9 e-ISBN 978-3-540-73833-6 DOI 10.1007/978-3-540-73833-6 Library of Congress Control Number: 2007934674 © Springer-Verlag Berlin Heidelberg 2008 This work is subject to copyright. All rights are reserved, whether the whole or part of the material is concerned, specifically the rights of translation, reprinting, reuse of illustrations, recitation, broad- casting, reproduction on microfilm or in any other way, and storage in data banks. Duplication of this publication or parts thereof is permitted only under the provisions of the German Copyright Law of September 9, 1965, in its current version, and permissions for use must always be obtained from Springer. Violations are liable for prosecution under the German Copyright Law. The use of general descriptive names, registered names, trademarks, etc. in this publication does not imply, even in the absence of a specific statement, that such names are exempt from the relevant protective laws and regulations and therefore free for general use. Cover design: WMXDesign GmbH, Heidelberg, Germany Printed on acid-free paper 987654321 springer.com Preface to the Series The deciphering of the sequence of a gene for the first time, the gene for bacterio- phage MS2 coat protein to be specific, by Walter Fiers and his coworkers in 1972 marked the beginning of a new era in genetics, popularly known as the genomics era. -
The Third Base
Appendix The Third Base Donald Forsdyke If I thought that by learning more and more I should ever arrive at the knowledge of absolute truth, I would leave off studying. But I believe I am pretty safe. Samuel Butler, Notebooks Darwin’s mentor, the geologist Charles Lyell, and Darwin himself, both con- sidered the relationship between the evolution of biological species and the evolution of languages [1]. But neither took the subject to the deep informa- tional level of Butler and Hering. In the twentieth century the emergence of a new science – Evolutionary Bioinformatics (EB) – was heralded by two dis- coveries. First, that DNA – a linear polymer of four base units – was the chromosomal component conveying hereditary information. Second, that much of this information was “a phenomenon of arrangement” – determined by the sequence of the four bases. We conclude with a brief sketch of the new work as it relates to William Bateson’s evolutionary ideas. However, imbued with true Batesonian caution (“I will believe when I must”), it is relegated to an Appendix to indicate its provisional nature. Modern languages have similarities that indicate branching evolution from common ancestral languages [2]. We recognize early variations within a language as dialects or accents. When accents are incompatible, communi- cation is impaired. As accents get more disparate, mutual comprehension de- creases and at some point, when comprehension is largely lost, we declare that there are two languages where there was initially one. The origin of lan- guage begins with differences in accent. If we understand how differences in accent arise, then we may come to understand something fundamental about the origin of language (and hence of a text written in that language). -
Sriram, a 2016.Pdf
A mitochondrial ROS signal activates mitochondrial turnover and represses TOR during stress Ashwin Sriram Thesis submitted to the Newcastle University in candidature for the degree of Doctor of Philosophy Newcastle University Faculty of Medical Sciences Institute of Cellular and Molecular Biosciences 1 DECLARATION I certify that this thesis is my own work and I have correctly acknowledged the work of collaborators. I also declare that this thesis has not been previously submitted for a degree or any other qualification at this or any other university. Ashwin Sriram July 2016 2 3 ACKNOWLEDGEMENTS This research work was carried out at the Institute for Cell and Molecular Biosciences and the Institute for Ageing, Newcastle University, Campus for Ageing and Vitality, Newcastle upon Tyne, United Kingdom under the supervision of Dr. Alberto Sanz. I owe my deepest of gratitude to my supervisor Dr. Alberto Sanz for giving me an opportunity to carry out this research project in his lab under his esteemed guidance. I am deeply indebted to him especially for the confidence that he always placed in me, his encouragement and support throughout the work. He has contributed a lot to my development as a scientist. A special thanks for all the conversations regarding how science “works”. I would also like to thank him for teaching me most of the techniques that have been implemented in this thesis. I am very grateful to Dr. Filippo Scialo for all his support and help with many experiments that are a part of this thesis. I thank him for all the long discussions in the office and during coffee breaks. -
Chromosomes in the Clinic: the Visual Localization and Analysis of Genetic Disease in the Human Genome
University of Pennsylvania ScholarlyCommons Publicly Accessible Penn Dissertations 2013 Chromosomes in the Clinic: The Visual Localization and Analysis of Genetic Disease in the Human Genome Andrew Joseph Hogan University of Pennsylvania, [email protected] Follow this and additional works at: https://repository.upenn.edu/edissertations Part of the History of Science, Technology, and Medicine Commons Recommended Citation Hogan, Andrew Joseph, "Chromosomes in the Clinic: The Visual Localization and Analysis of Genetic Disease in the Human Genome" (2013). Publicly Accessible Penn Dissertations. 873. https://repository.upenn.edu/edissertations/873 This paper is posted at ScholarlyCommons. https://repository.upenn.edu/edissertations/873 For more information, please contact [email protected]. Chromosomes in the Clinic: The Visual Localization and Analysis of Genetic Disease in the Human Genome Abstract This dissertation examines the visual cultures of postwar biomedicine, with a particular focus on how various techniques, conventions, and professional norms have shaped the `look', classification, diagnosis, and understanding of genetic diseases. Many scholars have previously highlighted the `informational' approaches of postwar genetics, which treat the human genome as an expansive data set comprised of three billion DNA nucleotides. Since the 1950s however, clinicians and genetics researchers have largely interacted with the human genome at the microscopically visible level of chromosomes. Mindful of this, my dissertation examines