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GENETICS of SEX DETERMINATION This Page Intentionally Left Blank ADVANCES in GENOME BIOLOGY ADVANCES IN GENOME BIOLOGY Volume 4 ,, 1996 GENETICS OF SEX DETERMINATION This Page Intentionally Left Blank ADVANCES IN GENOME BIOLOGY Editor: RAM S. VERMA Division of Genetics The Long Island College Hospital- SUNY Health Science Center Brooklyn, New York Volume 1. UNFOLDING THE GENOME Volume 2. MORBID ANATOMY OF THE GENOME Volume 3A GENETICS OF HUMAN NEOPLASIA Volume 3B GENETICS OF HUMAN NEOPLASIA Volume 4. GENETICS OF SEX DETERMINATION Volume 5. GENES AND GENOMES Volume 6. MITOCHONDRIAL GENOME This Page Intentionally Left Blank ADVANCES IN GENOME BIOLOGY GENETICS OF SEX DETERMINANATION Editor'. RAM S. VERMA Division of Genetics The Long Island College Hospital- SUNY Health Science Center Brooklyn, New York VOLUME 4 * 1996 @ JAI PRESS INC. Greenwich, Connecticut London, England Copyright 91996 JAI PRESS INC. 55 Old Post Road, No. 2 Greenwich, Connecticut 06830 JAI PRESS LTD. The Courtyard 28 High Street Hampton Hill Middlesex TW 12 1PD England All rights reserved. No part of this publication may be reproduced, stored on a retrieval system, or transmitted in any form or by any means, electronic, mechanical, photocopying, filming, recording, or otherwise, without prior permission in writing from the publisher. ISBN: 1-55938-836-6 Manufactured in the United States of America CONTENTS LIST OF CONTRIBUTORS PREFACE Ram S. Verma xiii GENETICS OF SEX DETERMINATION: AN OVERVIEW Ursula Mittwoch THE TESTIS DETERMINING GENE, SRY Michael O'Neill and Andrew Sinclair 29 SEX REVERSAL IN MAMMALS Claude M. lxlagamine 53 MOLECULAR GENETICS OF X-CHROMOSOME INACTIVATION Mary F. Lyon 119 SEX CHROMOSOME ABERRATIONS AND GENETIC CONSEQUENCES Henry Anhalt and E. Kirk Neely 153 GENETICS OF MALE PSEUDOHERMAPHRODITISM AND TRUE HERMAPHRODITISM Joe Leigh Simpson 181 PSEUDOAUTOSOMAL REGIONS AT THE TIP OF THE SHORT AND LONG ARMS OF THE HUMAN SEX CHROMOSOMES Gudrun A. Rappold 205 TEMPERATURE DEPENDENT SEX DETERMINATION: EVALUATION AND HYPOTHESIS Ann-Marie Coriat and Paul T. Sharpe 229 vii viii CONTENTS MAMMALIAN SPERMATOGENESIS David W. Hale 249 MECHANISM OF SEX DETERMINATION IN MAMMALS Ken McEIreavey 305 COMMENTARY: GENES, CHROMOSOMES, AND SEX Ram S. Verma 355 INDEX 363 LIST OF CONTRIBUTORS Henry Anhalt Department of Pediatrics School of Medicine Stanford University Stanford, California Ann-Marie Coriat Department of Craniofacial Development UMDS, Guy's Hospital London, England David W. Hale Department of Biology Texas A&M University College Station, Texas Mary F. Lyon Genetics Division MRC Radiobiology Unit Oxon, England Ken McEIreavey Immunogenetique Humaine Institut Pasteur Paris, France Ursula Mittwoch Department of Anatomy University of London Queen Mary and Westfield College London, England Claude Nagamine Department of Cell Biology School of Medicine Vanderbilt University Nashville, Tennessee E. Kirk Neely Department of Pediatrics School of Medicine Stanford University Stanford, California LIST OF CONTRIBUTORS Michael O'Neill Department of Pediatrics The University of Melbourne Royal Children's Hospital Parkville, Victoria, Australia Gudrun A. Rappold Institute of Human Genetics University of Heidelberg Heidelberg, Germany Paul T. Sharpe Department of Craniofacial Development UMDS, Guy's Hospital London, England Joe Leigh Simpson Department of Obstetrics & Gynecology Bayer College of Medicine Houston, Texas Andrew Sinclair Department of Pediatrics The University of Melbourne Royal Children's Hospital Parkville, Victoria, Australia Ram S. Verma Division of Genetics Long Island College Hospital SUNY Health Science Center Brooklyn, New York DEDICATION To Harold L. Light whose distinct leadership and enthusiastic support has been a continuous source of inspiration to the editor of this series. This Page Intentionally Left Blank PREFACE The Genetical Theory of Natural Selection by R.A. Fisher (1930) dictated that sexual dimorphisms may depend upon a single medelian factor. This could be true for some species but his suggestion could not take off the ground as gender in Drosophila is determined by the number of X chromosomes. Technical advances in molecular biology have revived the initial thinking of Fisher and dictate that TDF or SR Y genes in humans or Tdy in mice are sex determining genes. The fortuitous findings of XX males and XY female, which are generally termed sex reversal phenomenon, are quite bewildering traits that have caused much amazement concerning the pairing mechanism(s) of the pseudoautosomal regions of human X and Y chromosomes at meiosis. These findings have opened new avenues to explore further the genetic basis of sex determination at the single gene level. The aim of the fourth volume, titled Genetics of Sex Determination is to reflect on the latest advances and future investigative directions, encompassing 10 chapters. I have commissioned several distinguished scientists, all preeminent authorities in each field to shed their thoughts concisely but epitomize their chapters with an extended bibliography. Obviously, during the past 60 years, the meteoric advances are voluminous and to cover every account of genes, chromosomes, and sex in a single volume format would be a herculean task. Therefore, I have chosen a few specific topics which may be of great interest to scientists and clinicians. The seasoned scientists who love to inquire about the role of genes in sex determination should find the original work of ~ XIII xiv PREFACE these notable contributors very enlightening. This volume is intended for advanced students who want to keep abreast as well as for those who indulge in the search for genes of sex determination. I owe a special debt of gratitude to the many distinguished authors for having rendered a valuable contributions despite their many pressing tasks. Almost 400 pages reflect professionalism and scholarship with their own impressive styles. The publisher and the many staff members of JAI Press deserve much credit. I am very thankful to the many secretaries who typed the manuscripts of the various contributors. Ram S. Verma Editor GENETICS OF SEX DETERMINATION" AN OVERVI EW Ursula Mittwoch I. Introduction ............................................................ 2 II. Classical Genetics of Sex Determination .................................. 3 A. Molecular Genetics of Sex Determination in Drosophila .............. 6 Ill. Classical Models of Sex Determination Other than in Drosophila .......... 6 IV. The Human Y Chromosome ............................................. 7 V. Sex-Chromatin Bodies and X-Inactivation ................................ 9 VI. Sex Chromosomes in Other Species ..................................... 10 VII. Sex Reversal ........................................................... 10 VIII. Developmental Processes: Sex Determination and Differentiation ......... 13 IX. Asynchrony of Development and Asymmetry of Hormone Production by Fetal Testes and Ovaries ................................................ 14 X. Differential Growth of Fetal Testes and Ovaries .......................... 16 XI. Testis-Determining Genes ............................................... 17 XII. Differentiation Growth in XX and XY Embryos ......................... 18 XIII. Problems in Search of a Solution ........................................ 19 XIV. Conclusion and Outlook ................................................ 21 References ................................................ ............. 22 Advances in Genome Biology Volume 4, pages 1-28. Copyright 9 1996 by JAI Press Inc. All rights of reproduction in any form reserved. ISBN: 1-55938-836-6 2 URSULA MITTWOCH The determination of sex is not by inheritance, but by the combined effect of external circumstances. The force of experimental evidence has now become irresistible that sex- determination must be treated as a form of heredity; and evidently the cytological facts provide a good basis for its analysis. 2 I. INTRODUCTION The two citations introducing this overview are by Edmund Wilson and were published in 1896 and 1911, respectively. The intervening period of 15 years saw not only the rediscovery of Mendel's laws, 3-5 but also the discovery of sex chromosomes, in which Wilson himself played a principal role. The difference in the viewpoints illustrated in the above citations is a reflection of a difference in outlook which distinguishes the twentieth century from its predecessor. Toward the end of the nineteenth century, there was a shift in paradigm which resulted in environmental causes losing some of their preeminence of assumed agents in health and disease, while genetic factors began to come to the fore. "The world is beginning to perceive," wrote Galton, 6 "that the life of each individual is in some real sense a prolongation of those of his ancestry. His character, his vigour, and his disease, are principally theirs." This shift in people's perception regarding the origin of physical characteristics is nowhere more evident than in the attempt to answer the question as to what causes the difference between the sexes. During the nineteenth century the view prevailed that sex was determined by environmental conditions, of which the most important was thought to be nutrition of the mother, while the effect of temperature was thought to be less important, even though evidence was cited purporting to show that more boys were born in winter (reviewed in reference7). On the other hand, the increasingly systematic collections of quantitative data that became available toward the end of the century showed that in different mammalian species the ratio
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