Table Of ContentSpringer 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
