Genetic Analysis of the Cell Surface PDF
Preview Genetic Analysis of the Cell Surface
Receptors and Recognition General Editors: P. Cuatrecasas and M.F. Greaves About the series Cellular Recognition - the process by which cells interact with, and respond to, molecular signals in their environment - plays a crucial role in virtually all important biological functions. These encompass fertilization, infectious interactions, embryonic development, the activity of the nervous system, the regulation of growth and metabolism by hormones and the immune response to foreign antigens. Although our knowledge of these systems has grown rapidly in recent years, it is clear that a full understanding of cellular recognition phenomena will require an integrated and multi disciplinary approach. This series aims to expedite such an understanding by bringing together accounts by leading researchers of all biochemical, cellular and evolutionary aspects of recognition systems. This series will contain volumes of two types. First, there will be volumes containing about five reviews from different areas of the general subject written at a level suitable for all biologically oriented scientists (Receptors and Recognition, series A). Secondly, there will be more specialized volumes (Receptors and Recognition. series B), each of which will be devoted to just one particularly important area. Advisory Editorial Board K.F. Austen, Harvard Medical School, Boston, U.S.A. E.A. Boyse, Memorial Sloan-Kettering Cancer Center, New York, U.S.A. M.J. Crumpton, Imperial Cancer Research Fund Laboratories, London, U.K. M. Edidin, The Johns Hopkins University, Baltimore, U.S.A. N.B. Gilula, The Rockefeller University, New York, U.S.A. L.L. Iversen, MRC Neurochemical Pharmacology Unit, Cambridge, U.K. J. Lilien, The University of Wisconsin, U.S.A. V.T. Marchesi, Yale University, New Haven, U.S.A. S. Ohno, City of Hope National Medical Center, California, U.S.A. L. Philipson, University of Uppsala, Sweden. M. Raff, University College London, U.K. M. Rodbell, National Institutes of Health, Bethesda, U.S.A. M. Sela, The Weizmann Institute of Science, Israel. S.H. Snyder, The Johns Hopkins University, Baltimore, U.S.A. D.F.H. Wallach, Tufts University School of Medicine, Boston, U.S.A. L. Wolpert, The Middlesex Hospital Medical School, London, U.K. Receptors and Recognition Series A Published Volume 1 (1976) M.F. Greaves (London), Cell Surface Receptors: A Biological Perspective F. Macfarlane Burnet (Melbourne), The Evolution of Receptors and Recognition in the Immune System K. Resch (Heidelberg), Membrane Associated Events in Lymphocyte Activation K.N. Brown (London), Specificity in Host-Parasite Interaction Volume 2 (1976) D. Givol (Jerusalem). A Structural Basis for Molecular Recognition: The Antibody Case B. D. Gomperts (London), Calcium and Cell Activation M.A.B. de Sousa (New York), Cell Traffic D. Lewis (London), Incompatibility in flowering Plants A. Levitski (Jerusalem), Catecholamine Receptors Volume 3 (1977) J. Lindstrom (Salk, California), Antibodies to Receptors for Acetylcholine and other Hormones M. Crandall (Kentucky), Mating-Type Interaction in Micro-organisms H. Furthmayr (New Haven), Erythrocyte Membrane Proteins M. Silverman (Toronto), Specificity of Membrane Transport Volume 4 (1977) M. Sonenberg and A.S. Schneider (New York), Hormone Action at the Plasma Membrane: Biophysical Approaches H. Metzger (NIH, Bethesda), The Cellular Receptor for IgE T.P. Stossel (Boston), Endocytosis A. Meager (Warwick) and R.c. Hughes (London), Virus Receptors M.E. Eldefrawi and A.T. Eldefrawi (Baltimore), Acetylcholine Receptors Volume 5 (1978) P.A. Lehmann (Mexico). Stereoselective Molecular Recognition in Biology A.G. Lee (Southampton. U.K.), fluorescence and NMR Studies of Membranes L. D. Kohn (NIH, Bethesda), Relationships in the Structure and Function of Receptors for Glycoprotein Hormones, Bacterial Toxins and Interferon Volume 6 (1978) J .N. Fain (Providence, Rhode Island), Cyclic Nucleotides G.D. Eytan (Haifa) and B.J. Kanner (Jerusalem), Reconstitution of Biological Membranes P.J. O'Brien (NIH, Bethesda), Rhodopsin: A Light-sensitive Membrane Glycoprotein Index to Series A, Volumes 1-6 Series B Published The Specificity and Action of Animal Bacterial and Plant Toxins (Bl) edited by P. Cuatrecasas (Burroughs Wellcome. North Carolina) Intercellular Junctions and Synapses (B2) edited by J. Feldman (London), N.B. Gilula (Rockefeller University, New York) and J. D. Pitts (University of Glasgow) Microbial Interactions (B3) edited by J.L. Reissig (Long Island University, New York) Specificity of Embryological Interactions (B4) edited by D.R. Garrod (University of Southampton) Taxis and Behavior (BS) edited by G.L. Hazelbauer (University of Uppsala) Bacterial Adherence (B6) edited by E.H. Beachey (Veteran's Administration Hospital and University of Tennessee, Memphis, Tennessee) Virus Receptors Part 1 Bacterial Viruses (B7) edited by L.L. Randall and L. Philipson (University of Uppsala) Virus Receptors Part 2 Animal Viruses (B8) edited by K. Lonberg-Holm (Du Pont. Delaware) and L. Philipson (University of Uppsala) Neurotransmitter Receptors Part I Amino Acids, Peptides and Benzodiazepines (B9) edited by S.J. Enna (University of Texas at Houston) and H.I. Yamamura (University of Arizona) Neurotransmitter Receptors Part 2 Biogenic Amines (BlO) edited by H. I. Yamamura (University of Arizona) and S.J. Enna (University of Texas at Houston) Membrane Receptors: Methods for Purification and Characterization (B 11) edited by S. Jacobs and P. Cuatrecasas (Burroughs Wellcome, North Carolina) Purinergic Receptors (B12) edited by G. Burnstock (University College. London) Receptor Regulation (B13) edited by R.J. Lefkowitz (Duke University Medical Center, North Carolina) Histocompatibility Antigens: Structure and Function (B14) edited by P. Parham (Stanford University School of Medicine, California) and J. Strominger (Harvard University, Massachussetts) Receptor-Mediated Endocytosis (B1S) edited by P. Cuatrecasas (Burroughs Wellcome. North Carolina) and T. Roth (University of Maryland. Baltimore County) Receptors and Recognition Series B Volume 16 Genetic Analysis of the Cell Surface Edited by P. Goodfellow Imperial Cancer Research Fund Laboratories. London. UK. LONDON NEW YORK CHAPMAN AND HALL First published 1984 by Chapman and Hall Ltd 11 New Fetter Lane, London EC4P 4EE Published in the USA by Chapman and Hall 733 Third Avenue, New York NY 10017 ©1984 Chapman and Hall Softcover reprint of the hardcover 1s t edition 1984 ISBN-13: 978-94-010-8952-4 e-ISBN-13: 978-94-009-5556-1 DOl: 10.1007/978-94-009-5556-1 All rights reserved. No part of this book may be reprinted, or reproduced or utilized in any form or by any electronic, mechanical or other means, now known or hereafter invented, including photocopying and recording, or in any information storage and retrieval system, without permission in writing from the publisher. British Library Cataloguing in Publication Data Genetic analysis of the cell surface. (Receptors and recognition; B16) 1. Cell membranes 2. Mammals--Cytology 3. Genetics I. Goodfellow, Peter II. Series 599.08/76 QH601 Library of Congress Cataloging in Publication Data Main entry under title: Genetic analysis of the cell surface. (Receptors and recognition. Series B; v. 16) Includes bibliographical references and index. 1. Plasma membranes. 2. Cytogenetics. I. Goodfellow, P. (Peter), 1951- . II. Series. [DNLM: 1. Cell membrane-Physiology. 2. Cell membrane-Ultrastructure. 3. Genetic technics. WI REI07MA v. 16/QH 601 G3265] QH601.G43 1984 574.87'5 84-1758 Contents Contributors page viii Preface ix 1 Immunogenetic Approaches to Cell Surface Molecules in the Mouse 1 Melanie J. Palmer and Jeffrey A. Frelinger 2 Genetics of the Human Red Cell Surface 27 Patricia Tippett 3 Analysis of the Human Cell Surface by Somatic Cell Genetics 57 Alan Tunnacliffe and Peter Goodfellow 4 Molecular Genetics of the HLA Region 83 John Trowsdale, Janet Lee and Walter F. Bodmer 5 Cell Genetic Analysis of the Receptor Systems for Bioactive Polypeptides 107 Nobuyoshi Shimizu 6 Genetics of the Cell Surface of the Preimplantation Embryo: Studies on Antigens Determined by Chromosome 17 in the Mouse 143 Robert P. Erickson 7 The Male-Specific Antigen (H-Y) and Sexual Differentiation 159 Peter W. Andrews Index 191 Contributors Peter W. Andrews, The Wistar Institute of Anatomy and Biology, 36th Street at Spruce, Philadelphia 19104, U.S.A. Walter F. Bodmer, Imperial Cancer Research Fund, Lincoln's Inn Fields, London WC2A 3PX, U.K. Robert P. Erickson, Department of Human Genetics, University of Michigan School of Medicine, 1137 E. Catherine Street, Ann Arbor, Michigan 48109, U.S.A. Jeffrey A. Frelinger, Department of Microbiology and Immunology, University of North Carolina Medical School, Chapel Hill, North Carolina 27514, U.S.A. Peter Goodfellow, Imperial Cancer Research Fund, Lincoln's Inn Fields, London WC2A 3PX, U.K. Janet Lee, Imperial Cancer Research Fund, Lincoln's Inn Fields, London WC2A 3PX, U.K. Melanie J. Palmer, Department of Microbiology and Immunology, University of North Carolina Medical School, Chapel Hill, North Carolina 27514, U.S.A. Nobuyoshi Shimizu, Department of Molecular and Cellular Biology, University of Arizona, Tucson, Arizona 85721, U.S.A., and Department of Molecular Biology, Keio University School of Medicine , 35 Shinanomachi, Shinjuku-ku, Tokyo, Japan. Patricia Tippett, MRC Blood Group Unit, University College London, U.K. John Trowsdale, Imperial Cancer Research Fund, Lincoln's Inn Fields, London WC2A 3PX, U.K. Alan Tunnacliffe, Imperial Cancer Research Fund, Lincoln's Inn Fields, London WC2A 3PX, U.K. Preface The cell surface is the barrier between the cell and its environment which regulates the flow of both simple and complex molecules into and out of the cell; it is also the organelle responsible for communication between the cell and its environment. Each cell expresses receptors for a wide variety of hormones, growth factors, growth substrates and other cells. In multicellular organisms communication between cells is required for controlling development, cellular differentiation, morphogenesis and, in a more general sense, integration of myriad cell types into a single organism. The series Receptors and Recognition has as its overall aim the dissection of the cell surface to correlate structure and function for this complex organelle. In most of the preceding volumes the approach has been biochemical or physiological. In this volume the mammalian cell surface is analysed by a genetic approach. Genetic analysis of the cell surface, especially when combined with immuno logical techniques, has a long history. In 1900 Landsteiner showed that serum from one individual could agglutinate the red cells of another. Besides the practical result of making blood transfusion safe, this was the first demon stration of a human genetic polymorphism and for the next 50 years the red blood cell surface provided most of the genetic markers used to study human populations. The genetics of the surface of nucleated cells can be traced back to early experiments in cancer research and attempts to learn the rules associated with tumour transplantation. The transfer of tumour cells from one mouse to another could be used to define mice which were apparently resistant to tumour killing; this resistance was clearly very complicated and depended both on the tumour transferred and the recipient mouse. The problem was eventually solved by using two new genetic creations: the inbred mouse and the congenic mouse (see Chapter 1). Snell, in one of the most determined series of experi ments in modern times (the experiments took several years and had to be started twice because of a catastrophic fire), produced mice which differed at a single region which controlled tumour transplantation: congenic mice which differed at this region rejected tumours exchanged between them; mice which were identical at this region accepted tumours. This was the first genetic demonstration of the mouse major histocompatibility region or complex (MHR or MHC) to which Snell gave the prosaic name H-2 (histocompatibility locus-2). Following the prescient suggestions of Landsteiner that transplant ation and blood transfusion reactions would have a similar basis, Gorer made antisera which could predict the outcome of tumour transplantation experi ments. These antibodies recognized products of the H-2 locus. Thus, the surface of tumour cells contains genetically regulated molecules which are x Preface recognized as foreign by recipient mice. Medawar, studying skin transplant ation in humans, demonstrated that normal tissues also expressed genetically controlled histocompatibility antigens and this was the stimulus which eventually led to the definition ofthe human MHC or HLA complex. Subsequent advances in immunological and genetic techniques have been applied singularly and together for analysis of the cell surface. Particularly important were the introduction of somatic cell genetics (see Chapter 3), monoclonal antibodies (see Chapters 1 and 3) and the new techniques of DNA manipulation (see Chapter 4). Today genetic analysis of the cell surface is applied at many different levels from the structure of populations to the primary DNA sequence. In population studies departures from expected gene frequencies for cell surface markers can give indications of selection which in turn may give intimations of function. Similarly, at the level of the whole organism individuals lacking particular antigens may show increased or de creased abilities to cope with physiological stress or infection. At the cellular level interactions can be investigated by studying communication between cells with different cell surface phenotypes or by blocking interactions with specific antibodies. Also at the cellular level mutants can be selected in vitro which lack functional receptors and this can be correlated with changes in cellular behav iour. Gene mapping or genetic analysis at the chromosomal level is a sine qua non for all genetic analysis and can provide information about functional and evolutionary relationships between genes in the same and different systems. Finally, in the DNA sequence is the answer to many of the questions we would like to ask, if we but knew how to interpret the information. The chapters in this volume are designed to illustrate the wide variety of methods available for the genetic analysis of the cell surface. For reasons of space, consideration has been largely limited to mice and men but similar studies have also proved fruitful in other mammals, simpler eukaryotes and prokaryotes.
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