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574 Pages·2000·77.861 MB·English
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Springer Japan KK M. Kasahara (Ed.) Major Histocompatibility Complex Evolution, Structure, and Function With 148 Figures, Including 5 in Color Springer Masanori Kasahara, M.D., Ph.D. Professor Department of Biosystems Science, School of Advanced Sciences The Graduate University for Advanced Studies Hayama 240-0193, Japan Cover art credit: The following DNA sequences, obtained from the National Center for Biotech nology Information (NCB!) GenBank database (Nucleic Acids Res 27: 12-17, 1999), were used in the cover design: GI 1644236, 176820,22891,2864659, 435020, 164004,415004, 1644445, 992571, 4185618, 214593, 213822, 5231102, 259820 I. The crystal structure of the mouse H2 molecule (MMDB ID 4627) was obtained from the MMDB databank (Trends Biochem Sci 22: 314-316,1999) and visualized using the Cn3D program (Nucleic Acids Res 27: 240-243,1999). The GenBank and MMDB databases and the Cn3D program are provided by NCBI at the NCBI website (http://www.ncbi.nlm.nih.gov/). Cover design by Makoto Yawata ISBN 978-4-431-65870-2 ISBN 978-4-431-65868-9 (eBook) DOI 10.1007/978-4-431-65868-9 Printed on acid-free paper © Springer Japan 2000 Originally published by Springer-Verlag Tokyo Berlin Heidelberg New York in 2000 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, broadcasting, reproduction on microfilms or in other ways, and storage in data banks. The use of 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. Product liability: The publisher can give no guarantee for information about drug dosage and application thereof contained in this book. In every individual case the respective user must check its accuracy by consulting other pharmaceutical literature. Typesetting: Camera-ready by authors/editors SPIN: 10728600 Preface Every biological system is the outcome of evolution and has a history all its own. This history dictates how the system works and why it has certain properties and not others. This is why we need to study not only the structure and function, but also the history of the system. This argument undoubtedly applies to the study of the immune system and also to the study of the major histocompatibility complex (MHC). Since 1989, researchers of various scientific disciplines who share a deep inter est in MHC evolution have held a meeting every two years to discuss their latest research developments, exchange ideas, and foster friendship. Together with my colleagues Drs. Naoyuki Takahata and Yoko Satta, I organized the Sixth Interna tional Workshop on MHC Evolution in Hayama, Japan, May 25-29, 1999. This volume is the proceedings of that conference. It covers diverse topics pertinent to MHC evolution, including the origin of the adaptive immune system, the organi zation of the MHC in humans and other model vertebrates, MHC-parasite co evolution, and the nature and origin of MHC polymorphism. I hope that this book will be of interest not only for MHC researchers and immunologists, but also for other specialists who are interested in the evolution of biological systems in gen eral. I would like to express my sincere gratitude to all my colleagues in the De partment of Biosystems Science for their enthusiastic support in organizing the Workshop. I am particularly indebted to Dr. Makoto Yawata, Mr. Takashi Suzuki, and Ms. Atsuko Usami, whose assistance enabled the Workshop to proceed smoothly. Dr. Yawata and Mr. Suzuki also spent a great deal of effort in helping me edit this book. Without their dedicated help, it would have been impossible to publish this book in a timely manner. I also thank The Ministry of Education, Sci ence, Sports and Culture (Monbusho) of Japan and The Graduate University for Advanced Studies for their generous financial support. Last but not least, I thank the staff of Springer-Verlag Tokyo for their assistance and cooperation. Masanori Kasahara Hayama, Japan Autumn, 1999 v Contents Preface v Contributors XIIl 1. Origin of the MHC Jaws and AIS Jan Klein, Akie Sato, and Werner E. Mayer 3 The MHC paralogous group: listing of members and a brief overvIew Masanori Kasahara, Makoto Yawata, and Takashi Suzuki 27 The MHC «Big-Bang» : duplication and exon shuffling during chordate evolution. A hypothetico-deductive approach Laurent Abi Rached and Pierre Pontarotti 45 Relationships among the genes encoding MHC molecules and the specific antigen receptors Louis Du Pasquier 53 Conserved linkage among sea urchin homologs of genes encoded in the vertebrate MHC region Jonathan P. Rast, Paola Oliveri, and Eric H Davidson 66 2. Genome organization of the MHC Physical mapping of the class I regions of the rat major histocompatibility complex Eberhard Gunther, Sofia /oannidu, and Lutz Walter 77 MHC gene organization of the bony fish, medaka Kiyoshi Naruse, Akihiro Shima, and Masaru Nonaka 91 Polymorphic olfactory receptor genes and HLA loci constitute extended haplotypes Andreas Ziegler, Anke Ehlers, Simon Forbes, John Trowsdale, Barbara Uchanska-Ziegler, Armin Volz, Ruth Younger, and Stephan Beck 110 VB VllI Distribution of polypurine/polypyrimidine tract sequences in the human MHC region and their possible functions Shigehiko Kanaya, Tatsuo Fukagawa, Asako Ando, Hidetoshi Inoko, Yoshihiro Kudo, and Toshimichi Ikemura 131 Potential for paralogous mapping to simplify the genetics of diseases and functions associated with MHC haplotypes Roger Dawkins, Jemma Berry, Patricia Martinez, Silvana Gaudieri, Jennie Hui, Sonia Cauley, Natalie Longman, Jerzy Kulski, and Patrick Carnegie 146 Transposable elements and the metamerismatic evolution of the HLA class I region Jerzy K. Kulski, Silvana Gaudieri, and Roger L. Dawkins 158 Polymorphism in the HLA class I region Yoko Satta and Naoyuki Takahata 178 Nucleotide diversity within the human major histocompatibility complex: function of hitch-hiking effect, duplications, indels and recombination Silvana Gaudieri, Roger L. Dawkins, Kaori Habara, Jerzy K. Kulski, and Takashi Gojobori 186 3. Function and evolutionary dynamics of MHC genes Proteasomes and MHC class I-peptide generation Keiji Tanaka, Nobuyuki Tanahashi, and Naoki Shimbara 203 Comparative aspects of the MHC class I-related MRJ, CD] D, and MIC genes in primates Lutz Walter, Jung Won Seo, and Eberhard Gunther 213 Rat TL and CD 1 Akihiro Matsuura and Miyuki Kinebuchi 222 Are chicken Rfp-Y class I genes classical or non-classical? Marielle Afanassieff, Ronald M Goto, Jennifer Ha, Rima Zoorob, Charles Auffray, Fran90ise Coudert, W Elwood Briles, and Marcia M. Miller 236 Xenopus class I proteins Martin F. Flajnik and Yuko Ohta 248 IX Two MHC class II A loci in the channel catfish Vila B. Godwin, Michael Flores, Melanie R. Wilson, Sylvie Quiniou, Norman W Miller, L. William Clem, and Thomas J. McConnell 260 The evolution of MHC class I genes in cattle Shirley A. Ellis, Edward C. Holmes, Karen A. Staines, and W. Ivan Morrison 273 Evidence for four functional DQA loci in cattle with distinct distributions amongst European and African populations Keith T. Ballingall, Anthony Luyai, Bernard Marasa, and Dec/an J. McKeever 279 4. Natural killer gene complex The NKC and regulation of natural killer cell-mediated immunity Michael G. Brown, Anthony A. Scalzo, and Wayne M Yokoyama 287 5. MHC-pathogen coevolution Manipulation of MHC-encoded proteins by cytomegaloviruses Dagmar Bauer, Frank Momburg, and Hartmut Hengel 305 An animal model for understanding the immunogenetics of AIDS virus infection Carol M Kiekhaefer, David T. Evans, David H. O'Connor, and David I. Watkins 320 6. MHC polymorphism Evolution of HLA-DRB loci, ORB 1 lineages, and alleles: analyses of intron-l and -2 sequences Tomas F. Bergstrom, Steven J. Mack, VlfGyllensten, and Henry A. Erlich 329 The non-coding regions of HLA-DRB uncover inter-lineage recombinations as a mechanism of HLA diversification Katja Kotsch and Rainer Blasczyk 347 x Conversion or convergence? lntrons of primate DRB genes tell the true story Karin Kriener, Colm 0 'hUigin, and Jan Klein 354 lntron 1 sequence analysis of the MHC-DRBI, 3,4,5, and 6 genes in five non-human primate species Katja Kotsch and Rainer Blasczyk 377 Evolution of Catarrhini DPB 1 exon 2 under intragenic recombination Katsuko Hashiba, Shigeki Mitsunaga, Katsushi Tokunaga, and Yoko Satta 386 The effect of mutation, recombination and selection on HLA non-coding sequences Diogo Meyer and Rainer Blasczyk 398 HLA-DQ haplotypes in 15 different populations Ann B. Begovich, William Klitz, Lori L. Steiner, Sarah Grams. Vina Suraj-Baker, Jill Hollenbach, Elizabeth Trachtenberg. Leslie Louie, Peter A. Zimmerman, Adrian Vs. Hill, Mark Stoneking, Takehiko Sasazuki, Olga Rickards, Vincent P.K. Titanji, Vladimir 1. Konenkov, and Marina L. Sartakova 412 HLA class I and class II loci in Pacific/Asian populations Steven 1. Mack, Teodorica L. Bugawan, Mark Stoneking, Muhammad Saha. Hans-Peter Beck, and Henry A. Erlich 427 HLA class I alleles in Australian aborigines and their peptide binding profiles Xiaojiang Gao, Sue Lester, Anthony Veale, Barry Boettcher, Bart Currie, James McCluskey, and Gareth Chelvanayagam 446 An evolutionary overview of the MHC-G polymorphism: clues to the unknown function(s) Pablo Morales, Jorge Martinez-Laso, Maria Jose Castro, Eduardo Gomez-Casado. Miguel Alvarez, Ricardo Rojo, Javier Longas, Ernesto Lowy, Isabel Rubio, and Antonio Arnaiz-Villena 463 XI MIC-A polymorphism and a MIC-A-MIC-B null haplotype with -I OO-kb deletion Miki Komatsu-Wakui, Jun Ohashi, Katsushi Tokunaga. Yoshihide Ishikawa, Kouichi Kashiwase, Hitoshi Ando. Takashi Shiina, Daniel E. Geraghty, Hidetoshi Inoko. and Ta keo Ju} i 480 Repertoire forecast of MHC class I binding peptides with peptide libraries Keiko Udaka, Karl-Heinz Wiesmiiller, and Giinther Jung 487 Sequence conditions for gene conversion of mouse MHC genes Jan Bohme and Kari Hogstrand 503 Mhc class II genes of Darwin's Finches: divergence by point mutations and reciprocal recombination Akie Sato, Felipe Figueroa, Werner E. Mayer, Peter R. Grant, B. Rosemary Grant, and Jan Klein 518 Contrasting patterns of MHC and microsatell ite diversity in social and solitary tuco-tucos (Rodentia: Ctenomyidae) Tina M. Hambuch and Eileen A. Lacey 542 Author index 555 Key word index 559

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