A . Blancher • J. Klein • W. W. Socha (Eds.)

Molecular Biology and Evolution of Blood Group and MHC Antigens in Primates

Springer-Verlag Berlin Heidelberg GmbH

A. Blancher • J. Klein • W. W. Socha (Eds.)

Molecular Biology and Evolution of Blood Group and MHC Antigens in Primates

With 103 Figures and 72 Tables

Springer

A N T O I N E B L A N C H E R , M D , PhD

Laboratoire d'lmmunog^n&ique moleculaire University Paul Sabatier, C H U de Toulouse H6pital Purpan Place du Docteur Baylac 31059 Toulouse cedex * France

J A N K L E I N , P H D

Max-Planck-Institut für Biologie Abteilung Immungenetik Correnstr. 42

72076 Tübingen • Germany

W L A D Y S L A W S O C H A , M D

Laboratory for Experimental Medicine and Surgery in Primates (LEMSIP) New York University Medical Center 10 Townsend Avenue Upper Grandview, NY 10960-4830 • USA

ISBN 978-3-642-63843-5 Library of Congress Cataloging-in-Publication Data Molecular biology and evolution of blood group and M H C antigens in primates / A. Blancher, J. Klein, S.W. Socha (eds.). op, cm.

Includes bibliographical references and Index. ISBN 978-3-642-63843-5 ISBN 978-3-642-59086-3 (eBook) DOI 10.1007/978-3-642-59086-3

1. Blood group antigens. 2. Blood group antigens-Evolution. 3. Major histocompatibility complex. 4. Major histocompatibility complex-Evolution. 5. Primates-Evolution. I. Blancher, A. (Antoine), 1954- . II. Klein, Jan, 1936- . III. Socha, Wladyslaw W., 1926- . QP98.M653>h2>i997 57i.9*645-dc2i

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Preface

Zoologists have categorized primates into a single order, and no one doubts today that they share a common ancestry. Humans and Old and New World non­human primate species, from the lemurs of Madagascar to the African anthro­poid apes, represent diverging branches of an evolutionary common trunk. Along with species-specific characters, all primates have retained a number of ancestral traits, relics of their common origin. The comparative study of these species-specific and ancestral traits makes it possible to reconstruct the evolu­tionary pathways of humans and nonhuman primates.

The discovery of the human blood groups and, later, of the Major Histocom­patibility Complex (MHC) had a seminal effect on the field of human genetics, providing the first sound examples of mendel ian polymorphisms. The use of blood group and MHC alleles as genetic markers in biological anthropology gen­erated a conceptual revolution and persuaded researchers to begin to think in terms of populations and not only intems of typology. The counterparts of these human red and white cell antigens were found and studied in nunhuman primates, and progress in this field is summarized in this book.

Investigations of red cell antigens in apes and monkeys were initiated by Karl Landsteiner and Alexander S. Wiener, the co-discoverers of the Rhesus factor in human blood, and were continued by their collaborators and resulted in hundreds of publications. Blood groups of Primates. Theory, Practice, Evolutionary meaning published in 1983 by Wladyslaw W. Socha and Jacques Ruffie was the first book to summarize the status of knowledge of blood group serology of non­human primates and to discuss the relationships between human and nonhuman primate red cell antigens. The discovery of the human Major Histocompatibility Complex (MHC) by Jean Dausset was followed by an explosive progress in the comprehension of the structure and physiology of the MHC antigens. Most importantly, the role of MHC class I and II molecules in the presentation of pep­tides to the T lymphocyte receptors was recognized. The study of MHC was extended to subhuman primate species and results were compiled in Evolution of Major Histocompatibility Complex (Jan Klein and Dagmar Klein, Eds. Springer, 1991).

Natural selection in response to the pressure generated by the numerous environmental pathogens to which human and nonhuman primates have been exposed has affected, over time, the frequencies of alleles and haplotypes of the various MHC loci. Thus, the immunological profiles we observe today in

VI Preface

humans and other primates must be the result of these darwinian selection pro­cesses. Is it therefore possible to reconstruct all the infectious episodes experi­enced by a species? Nothing is less certain. Some aggressors may have become extinct due to their rapid destruction by the immune defenses of their hosts. In other cases, the host disappeared and the fight ceased for lack of fighters. Only those pathogens that allowed the host to survive long enough to infect other individuals and that were sufficiently resistant to the host's immune system could be maintained in an endemic state. Moreover, not a single species is free of infections; rather, each carries its particular load of parasites, bacteria, viruses and symbionts. These potentially pathogenic companions may become rigorously adapted to their host, occur ubiquitously or locally, or be common to many species. Furthermore, all these pathogens will continue to evolve with their host species, which may eventually become a unique reservoir for this infectious agent.

In this book, A. Blancher, J. Klein, and W. W. Socha have summarized the results of their many years of research, and, as editors, invited the contributions of a number of eminent colleagues and collaborators. The volume contains a vast list of references and represents a summary of modern molecular immunoge­netics of primates, including humans. For many years Blood Groups, by Robert Race and Ruth Sanger, was the reference textbook for immunohematologists. The book by Blancher, Klein and Socha, which centers on the immunogenetics of blood groups and the MHC of nonhuman primates but also provides abundant information on human immunohematology, will also undoubtedly find a wide circle of readers.

April 1997 Jacques Ruffie Luca Cavalli-Sforza

Contents

Part I Taxonomy and Phylogeny of Primates . . . . . . . . . . . . . . . . . . . . . . 3

1 Taxonomy and Phylogeny of Primates C. P. Groves . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 3

Part II Red Blood Cell Antigens .............................. 25

Introduction w. W. Socha and A. Blancher

2 The ABO, Hh and Lewis Blood Group in Humans and Nonhuman Primates

27

A. Blancher and W. W. Socha .............................. 30

3 The MNSs Blood Group System Serology and Formal Genetics W. W. Socha and A. Blancher .............................. 93

Molecular Biology of Glycophorins in Humans and Nonhuman Primates o. o. Blumenfeld, C.-H. Huang, S. S. Xie, and A. Blancher . . . . . . . . .. 113

4 The Rhesus System A. Blancher and W. W. Socha

5 The Duffy Blood Group System and Its Extensions in Nonhuman Primates

147

o. Pogo and A. Chaudhuri . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 219

6 The O(-Galactosyl Epitope (Galo(l-3Gal/J1-4GlcNAc-R) and the Natural Anti-Gal Antibody U. Galili ............................................. 236

7 Simian-Type Blood Groups of Nonhuman Primates W. W. Socha .......................................... 254

8 Blood Group Antigens as Receptors for Pathogens A. Frattali Eder and S. 1. Spitalnik .. . . . . . . . . . . . . . . . . . . . . . . .. 268

VIII Contents

9 Evolution of Blood Group Antigen Polymorphism J. Klein, C. O'hUigin, and A. Blancher ........................ 305

Part III Major Histocompatibility Complex . . . . . . . . . . . . . . . . . . . . . . . 323

Geography and History of the Genes in the Human MHC: Can We Predict MHC Organization in Nonhuman Primates? R. Tazi Hanini, J. Henry, and P. Pontarotti . . . . . . . . . . . . . . . . . . . .. 325

2 Class I Genes in Nonhuman Primates 1. F. Cadavid and D. 1. Watkins ............................ 340

3 Mhc Class II Genes of Nonhuman Primates The DR Loci R. E. Bontrop ......................................... 358

Evolution of Length Variation in the Primate Mhc-DR Subregion J. Klein, Y. Satta, and R. Gongora ........................... 372

The DQ Loci U. Gyllensten, T. Bergstrom, and H. A. Erlich .................. 386

Nonhuman Primate Mhc-DP Genes B. Grahovac .......................................... 402

The DM and DNIDO Loci C. O'hUigin and F. Figueroa

4 The Primate Class III Major Histocompatibility Complex Region Encoding Complement Components and Other Genes

414

F. Figueroa ........................................... 433

5 Mhc Genes, Immune Response, and Vaccines R. E. Bontrop ......................................... 449

6 MHC and Disease Associations in Nonhuman Primates S. Gaudieri, J. K. Kulski, and R. 1. Dawkins ................... 464

7 Nonhuman Primate MHC Class I Sequences, 1997 C. Shufflebotham and D. 1. Watkins ......................... 491

8 Nonhuman Primate MHC Class II Sequences: A Compilation C. O'hUigin ........................................... 507

9 Nomenclature for the Major Histocompatibility Complexes and Alleles of Different Nonhuman Primate Species R. E. Bontrop and J. Klein .,. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 552

List of Contributors

Bergstrom, T. Department of Medical Genetics Uppsala University Biomedical Center Box 589 75123 Uppsala Sweden

Blancher, A. Laboratoire d'Immunogenetique moleculaire Universite Paul Sabatier, CHU de Toulouse Hopital Purpan Place du Docteur Baylac 31059 Toulouse France

Blumenfeld, O. Department of Biochemistry Albert Einstein College of Medicine 1300 Morris Park Avenue Bronx, NY 10461 USA

Bontrop, R. TNO Medical Biological Laboratory TNO Healt Research PO Box 5815 2280 HV Rijswijk The Nederlands

X List of Contributors

Cadavid, 1. F. Wisconsin Regional Primate Research Center University of Wisconsin-Madison 1220 Capitol Court Madison, WI 53715

USA

Chaudhuri, A. Laboratory of Cell Biology Lindsley F. Kimball Research Institute The New Work Blood Center 310 E. 6/h St. New York, NY 10021

USA

Dawkins, R. 1. Center for Molecular Immunology and Instrumentation GPO Box X2213

Perth, WA 6001

Australia

Fratalli Eder, A. Department of Pathology and Laboratory Medicine University of Pennsylvania 3400 Spruce Street Philadelphia, PA 19104-4283 USA

Erlich, H. A. Roche Molecular Systems, Inc. 1145 Atlantic Avenue, Suite 100

Alameda, CA 94501

USA

Figueroa, F. Max-Planck-Institut fiir Biologie Abteilung Immungenetik Correnstr. 42 72076 Tiibingen Germany

Galili, U. Department of Microbiology Medical College of Pennsylvania 2900 Queen Lane Philadelphia PA 19129

USA

Gaudieri, S.

List of Contributors XI

Department for Molecular Immunology and Instrumentation GPO Box X2213

Perth, WA 6001

Australia

Gongora, R. Max -Planck -Institut fUr Biologie Abteilung Immungenetik Correnstr. 42

72076 Tiibingen Germany

Grahovac, B. Head of Department of Molecular Immunogenetics Croatian Institute of Transfusion Medicine Petrova 3, 10 000 Zagreb Croatia

Groves, C.

Department of Archaeology and Anthropology Australian National University Canberra, A.C.T. 0200

Australia

Gyllensten, U. Department of Medical Genetics Uppsala University Biomedical Center Box 589

75123 Uppsala Sweden

XII List of Contributors

Henry, J. CNRS/ERS 7101

Laboratoire de Biochimie Medicale 2, rue du Dr. Marcland 87025 Limoges France

Huang, C.-H. Laboratory of Cell Biology Lindsley F. Kimball Research Institute The New York Blood Center 310 E. 6lh St. New York, NY 10021

USA

Klein, J. Max-Planck-Institut fur Biologie Abteilung Immungenetik Correnstr. 42 72076 Tubingen Germany and Department of Microbiology and Immunology University of Miami School of Medicine Miami, FL 33101

USA

Kulski, J. K. Department of Microbiology and Infectious Diseases Royal Perth Hospital GPO Box X2213

Perth, WA 6001

Australia

O'h Uigin, C. Max-Planck-Institut fur Biologie Abteilung Immungenetik Correnstr. 42 72076 Tiibingen Germany and Department of Microbiology and Immunology University of Miami School of Medicine Miami, FL 33101 USA

Pogo, O. Laboratory of Cell Biology Lindsley F. Kimball Research Institute The New York Blood Center 310 E. 6lh St. New York, NY 10021 USA

Pontarotti, P. INSERM Un9 27, Bd LeI Roure 13009 Marseille Cedex France

Satta, Y. The Graduate University for Advanced Studies Hayama 240-01 Kanagawa Japan

Shufflebotham, C. Wisconsin Regional Primate Research Center University of Wisconsin-Madison 1220 Capitol Court Madison, WI 53715 USA

List of Contributors XIII

XIV List of Contributors

Socha, W. W. New York University Medical Center Laboratory for Experimental Medicine and Surgery in Primates (LEMSIP) 10 Townsend Avenue Upper Grandview, NY 10960-4830

USA

Spitalnik, S. L. Department of Pathology and Laboratory Medicine University of Pennsylvania 3400 Spruce Street Philadelphia, PA 19104-4283 USA

Tazi Ahnini, R. CIGH/CNRS Hopital Purpan 31300 Toulouse Cedex France

Watkins, D. I. Wisconsin Regional Primate Research Center and Department of Pathology and Laboratory Medicine University of Wisconsin-Madison 1220 Capitol Court Madison, WI 53715 USA

Xie, S. Dept. of Molecular Biology Hunan Medical University Chingsa, Hunan 410078 P.R. of China