Genetics of the Mouse PDF
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Jean Louis Guénet · Fernando Benavides Jean-Jacques Panthier · Xavier Montagutelli Genetics of the Mouse Genetics of the Mouse Jean Louis Guénet · Fernando Benavides Jean-Jacques Panthier · Xavier Montagutelli Genetics of the Mouse 1 3 Jean Louis Guénet Jean-Jacques Panthier Institut Pasteur (Emeritus) Mouse Functional Genetics Unit Paris Institut Pasteur France Paris France Fernando Benavides and Division of Basic Science Research Department of Molecular Carcinogenesis Ecole Nationale Vétérinaire d’Alfort The University of Texas MD Anderson Maisons-Alfort Cancer Center France Smithville, TX USA Xavier Montagutelli Mouse Functional Genetics Unit Institut Pasteur Paris France ISBN 978-3-662-44286-9 ISBN 978-3-662-44287-6 (eBook) DOI 10.1007/978-3-662-44287-6 Library of Congress Control Number: 2014945779 Springer Heidelberg New York Dordrecht London © Springer-Verlag Berlin Heidelberg 2015 This work is subject to copyright. 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Printed on acid-free paper Springer is part of Springer Science+Business Media (www.springer.com) This book is dedicated to the memory of Professor François Jacob (June 1920–April 2013) Foreword The science of experimental biology rests on the analysis of causative factors, fol- lowed by synthesis. Commonly, the analytic step involves determining the con- sequences of a known perturbation. Classical experimental biology rested on perturbations of the environment, or on surgical operations such as transplantation. When the science of genetics reached molecular resolution in the twentieth cen- tury, mutational perturbation became prominent. In organisms for which sophisti- cated genetic methods have been developed, it is feasible, either through positional cloning of the mutated gene or through directed mutagenesis, to make connections between changes in phenotype and specific molecular changes. The laboratory mouse is the first experimental mammalian species allowing these sophisticated methods. Thus, The Genetics of the Mouse by Guénet, Benavides, Montagutelli, and Panthier is more than a genetics textbook. It is also a talisman, containing instructions by which the experimental mammalian biologist can analyze a pro- cess of interest at molecular resolution. It is a twenty-first-century version of the twelfth-century tome on the crafts of the medieval guilds authored by Theophilus: On Divers Arts. The chapters delve deeply into the biology of the mouse. They range from detailed presentations of the natural history of the species, its handling in the labo- ratory, and its classical genetics, to contemporary issues including the epigenet- ics of parental imprinting and X-chromosome inactivation. Further, they provide a detailed discussion of the strategies for creating and cloning constitutive and con- ditional mutant alleles. Finally, they present a platform from which the analysis of complex quantitative traits is currently addressed. When the in-depth details of a subject exceed reasonable limits in length, the authors provide footnotes to more extensive treatments. As experienced geneticists, the authors appreciate the impor- tance of phenotyping, not letting it get lost in the details of analyzing and manipu- lating the genotype. At the core of their presentation is the importance of inbred strains and isogenicity for the identification of single causative factors. The ultimate goal of many mammalian experimental biologists is to develop an understanding of issues in human biology. The authors recognize the circum- stances in which a particular mouse model fails to present the phenotype expected vii viii Foreword from the cognate condition in the human, and they outline ways in which mice can be made chimeric for human tissues. Because any one model gives at best only a first approximation to the human case, a diverse set of models may provide further approximations. The methods presented can lead to the development of a homol- ogous series of mouse models in any of their distinct inbred backgrounds, or in their genetically homogeneous F1 hybrids, or in other mammalian genera that can be inbred. Seen broadly, The Genetics of the Mouse connects the past, present, and future in the experimental biology of mammals. William F. Dove Streisinger Professor of Experimental Biology, Emeritus University of Wisconsin Madison Preface This book is intended for several different categories of potential readers. First, are students who have completed their university studies in biology or medical sciences and wish to undertake a PhD project making use of mice but who have no experience with this model organism. Reading this book will enable them to acquire, rapidly and in a relatively condensed form, a background that will be helpful for the critical reading of primary scientific publications and for the opti- mal design of their projects. Genetics instructors will also find useful examples to illustrate undergraduate biology courses. Molecular and developmental biolo- gists whose research program is focused on a gene or gene family will also be interested and will realize that the mouse is an exceptional model with which they may be able to develop studies impossible or difficult to achieve with any other mammalian species. For example, they may be able to produce a variety of point mutations in the same genetic background or exactly the same point mutation in a variety of different backgrounds, allowing exploration of the function of this gene and its interplay within gene networks. This book will also be helpful to physi- cians and pediatricians by allowing them to choose or design the best possible model for their research related to a specific human pathology. This would be true not only for the diseases resulting from point mutations in orthologous genes but also, and more interestingly, for those mutations whose phenotypic expression is influenced by the environment or the genetic background of the animal. Finally, laboratory animal veterinarians and technicians, who are in charge of the breed- ing and preservation of mouse models, will find useful explanations about their increasing complexity. This book covers all aspects of mouse genetics. The first four chapters describe the origin of laboratory mice, the reproductive biology, the cytogenetics, and the mapping of genes. The establishment of highly detailed genetic maps was a major and fundamental contribution to mouse geneticists during the twentieth century that ultimately led to the complete sequencing of the genome. This topic has been presented in a relatively condensed form in this book, because we have consid- ered that the excellent book published in 1995 by Lee M. Silver, which is freely available on the site “Mouse Genome Informatics”, is still a major reference in ix x Preface this matter. On the contrary, the transcriptome and the parental imprinting of the genome are topics that have been the subject of intensive research over the last 10 years. For this reason they are presented in more detail along with the techniques for the production of mutations, which is one of the most attractive features of the mouse. Finally, quantitative genetics, a branch of genetics that is in expansion, is presented in a didactic manner. This book greatly benefited from the contributions of some of our colleagues whom we would like to cordially thank. François Bonhomme, an old friend with whom we have collaborated many times in the past, reviewed and commented on Chap. 1. Marie-Geneviève Mattei read and amended Chaps. 3 and 6 and allowed us to share her extensive knowledge of cytogenetics. Yann Herault also made inter- esting suggestions about Chap. 3 and provided us with a schematic figure repre- senting the best models of Down syndrome. Benoît Robert accepted the difficult task of writing an original synthesis concerning the regulation of gene expres- sion (Chap. 5). Edith Heard, Luisa Dandolo, and Deborah Bourc'his abundantly corrected and commented on Chap. 6 dealing with X-inactivation and parental genetic imprinting. Michel Cohen-Tannoudji corrected and completed our initial versions of Chap. 8, and Tomoji Mashimo read the section of the same chapter dealing with the production of targeted alterations using engineered nucleases and provided a summary picture. Finally, Robert P. Erickson kindly read the whole of our manuscript, making many insightful comments. The authors also wish to thank Drs. Hesed M. Padilla-Nash and Thomas Ried from the Genetics Branch, National Cancer Institute, National Institutes of Health, Bethesda for providing a picture of a mouse spectral karyotyping, Dr. Dianne Creasy, Huntingdon Life Sciences, East Millstone, for providing a picture of the seminiferous epithelium with identification of the different cell types, and Ms Annie Orth for providing a picture of a sample of her unique collection of wild mice. Finally, the authors are greatly indebted to their colleague Dominique Simon, who helped in the prepara- tion of many illustrations and to Mrs. Sarah Adai, MD Anderson Cancer Center, who undertook to “translate” their awkward English into a more readable form. Writing this book has kept us busy for nearly two years, but it was really an enthralling experience. Whatever the chapter, we realized that the Genetics of the Mouse has changed considerably over the last 20 years and, with an increasing number of transnational collaborative projects, we can expect even more dramatic changes in the years to come. Contents 1 Origins of the Laboratory Mouse ............................. 1 1.1 Introduction .......................................... 1 1.1.1 Phylogenetic Relationships of Laboratory Mice with Other Mammals ........................... 1 1.1.2 How the House Mouse Became a Domestic Species ... 5 1.1.3 How the House Mouse Became a Model for Geneticists ................................ 8 1.1.4 The Community of Mouse Geneticists ............. 12 1.1.5 The Main Institutions Involved in Mouse Genetics .... 12 1.1.6 Books and Other Sources of Information Concerning the Mouse .......................... 13 1.1.7 The Future of Mouse Genetics .................... 14 References ................................................. 15 2 Basic Concepts of Reproductive Biology and Genetics ............ 19 2.1 Introduction .......................................... 19 2.2 Reproduction in the Laboratory Mouse ..................... 19 2.2.1 The Estrous Cycle and Pregnancy ................. 19 2.2.2 Inducing Ovulation in the Mouse (Superovulation) .... 24 2.2.3 Artificial Insemination .......................... 25 2.2.4 In Vitro Fertilization in the Mouse ................. 26 2.2.5 Ovary Transplantation .......................... 27 2.2.6 Intra Cytoplasmic Sperm Injection ................ 28 2.2.7 Cryopreservation of Mouse Embryos and Spermatozoa .............................. 28 2.2.8 Twinning in the Mouse .......................... 29 2.2.9 Cloning Laboratory Mice ........................ 30 2.2.10 Mosaics and Chimeras .......................... 31 2.3 Basic Notions of Genetics ............................... 34 2.3.1 Genes and Alleles .............................. 34 2.3.2 Allelic Interactions ............................. 37 xi
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