Genetics of Immunological Diseases

341 Pages·1988·20.141 MB·English

by  S. D. M. Brown, N. Brockdorff, J. S. Cavanna, E. M. C. Fisher, A. J. Greenfield (auth.), Beverly Mock Ph.D, Michael Potter M.D. (eds.)

Current Topics in
Microbiology
137 and Immunology
Editors
A. Clarke, Parkville/Victoria . R W. Compans,
Birmingham/Alabama . M. Cooper, Birmingham/Alabama
H. Eisen, Paris . W. Goebel, Wiirzburg . H. Koprowski,
Philadelphia . F. Melchers, Basel . M. Old stone,
La Jolla/California . P.K Vogt, Los Angeles
H. Wagner, Ulm . I. Wilson, La Jolla/California
Genetics
of Immunological
Diseases
Edited by B. Mock and M. Potter
With 88 Figures
Springer-Verlag
Berlin Heidelberg N ewYork
London Paris Tokyo
BEVERLY MOCK, Ph.D
MICHAEL POTTER, M.D.
Laboratory of Genetics
National Cancer Institute
National Institutes of Health
Bethesda, MD 20892, USA
ISBN 978-3-642-50061-9 ISBN 978-3-642-50059-6 (eBook)
DOl 10.1007/978-3-642-50059-6
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© Springer-Verlag Berlin Heidelberg 1988
Softcover reprint ofthe hardcover 1s t edition in 1998
Library of Congress Catalog Card Number 15-12910
The use of registered names, trademarks, etc. in this publication does not
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Preface
The development of innovative molecular techniques such as pulse-field gel electro
phoresis, cDNA subtraction libraries and chromosome hopping libraries coupled
with the increasing popularity in the prospect of sequencing mammalian genomes,
has triggered a resurgence of interest in finding and characterizing genes that
playa role in modifying immune processes and diseases. Genetically defined strains
of mice (e.g., inbred strains and recently derived stocks of wild mice) provide
ideal models for examining the genetic control of diseases as a result of their
syntenic relationship with man in genetic composition as well as linkage conserva
tion. Due to the relative ease of producing a specific genotype via appropriate
breeding schedules, murine models may provide the only hope for unravelling those
complex disease processes under mUltigenic control.
This issue of CTMI is a collection of papers on the characterization and mapping
of genes involved in mutations and dysregulated immune responses which produce
disease phenotypes. These papers were presented at a workshop which was devoted
to examining reverse genetic approaches at localizing, cloning and characterizing
genes involved in a variety of developmental, autoimmune, neoplastic and infectious
disease processes.
In the first of three sections, a series of papers outline the most currently
used methods of mapping and isolating genes whose products are unknown. The
papers, following, are devoted to specific gene systems whose dysregulation is
likely to produce mutant or disease phenotypes. In this section, gene regulation,
ranging from evolutionary constraints on structure and function to control via
cis- and trans-acting elements, is examined in a variety of developmental and
immunological systems. The final section is devoted to a collection of elusive
disease genes involved in the control of host resistance and susceptibility.
We wish to thank Professor Dietrich Goetze, Ms. Anna Deus and the staff of Springer
Verlag for their assistance in publishing this collection of papers, the authors
of which participated in a workshop on this subject in Bethesda, Maryland from
27-29 October, 1987. We thank the National Cancer Institute and Dr. Alan S. Rabson
for sponsoring and encouraging this workshop which brought together a diverse array
of investigators in mouse genetics. We are grateful to Ms. Victoria Rogers for
her editorial and administrative help in preparing this book.
Beverly A. Mock, Ph.D.
and
Michael Potter, M.D.
National Cancer Institute
National Institutes of Health
18ble of Contents
I. Localizing and Cloning Genes
S.D.M. BROWN, N. BROCKDORFF, J.S. CAVANNA, E.M.C. FISHER, A.J. GREENFIELD,
M.F. LYON, and J. NASIR: The Long-Range Mapping of Mammalian Chromosomes.
Wi th 4 Figures ....•.•.•...•.•.•..•••.••..••••.•.••.•...•..•...•.•.•..•...•..• 3-
J.L. GUENET, D. SIMON-CHAZOTTES, and P.R. AVNER: The Use of Interspecific Mouse
Crosses for Gene Localization: Present Status and Future Perspectives .••••.•• 13
D.A. STEPHENSON, S.G. GRANT, L.J. MULLINS, A.E. SCOLESE, A.J. O'REILLY, and
V.M. CHAPMAN: X-Chromosome Gene Order in Different Mus Species Crosses.
With 1 Figure ••.•.••••..••••••••••..•••••.•..••..•- :-::.. .••...• •..•••.• ••••..• 18
R.D. BLANK, G.R. CAMPBELL, M. POLLAK, and P. D'EUSTACHIO: Bayesian Multilocus
Linkage Mapping. With 1 Figure .•.••..•..••...•.•.......•..........•......•..• 25
C.SZPIRER, J. SZPIRER, M.O. ISLAM, and G. LEVAN: The Rat Gene Map.
With 1 Figure................................................................ 33
J.H. NADEAU and A.H. REINER: Linkage and Synteny Homologies in Mouse and Man.
Wi th 1 Figure ....•••.••.•.•••••••••.••.•••••.•.••.•...•••.•....••..•..••••••• 39
N.D. HASTIE, D.J. PORTEOUS, W. BICKMORE, J. MAULE, and V. van HEYNINGEN:
Molecular Analysis of the Aniridia - Wilms' Tumor Syndrome. With 2 Figures ... 41
L. STUBBS, A. POUSTKA, D. ROHME, L.B. RUSSELL, and H. LEHRACH: Approaching the
Mouse Steel Locus from Closely Linked Molecular Markers. With 3 Figures 47
II. Complex Loci Involved in the Regulation of Developmental
and ImmunologIcal Processes
The Mouse t Complex
J. KLEIN, V. VINCEK, M. KASAHARA, and F. FIGUEROA: Probing Mouse Origins with
Random DNA Probes. With 4 Figures ...•••.••...••••.••••••••••••..•••.••..••••• 55
L.M. SILVER: Mouse t Haplotypes: A Tale of Tails and a Misunderstood Selfish
Chromosome .•.....•••....•••••.•...••••••.....••••••...•••.•....•••..••..••.•. 64
M.A. ERHART; S.J. PHILLIPS, and J.H. NADEAU: Contrasting Patterns of Evolution
in the Proximal and Distal Regions of the Mouse! Complex •....•...•....•...•. 70
B.G. HERRMANN and H. LEHRACH: From Phenotype to Gene: Molecular Cloning in the
Brachyury ill Locus Region. With 2 Figures ...••••••.•.••••••...••••.••..•••.. 77
VIII
Mouse Homeo Box Genes
M. FIBI, M. KESSEL, and P. GRUSS: Murine Hox Genes - A Multigene Family.
With 2 Figures............................................................... 82
A. GRAHAM, P.W.H. HOLLAND, A. LUMSDEN, R. KRUMLAUF, and B.L.M. HOGAN: Ex
pression of the Homeobox Genes Hox 2.1 and 2.6 During Mouse Development.
With 3 Figures............................................................... 87
Immunoglobulin Superfamily Genes
M.R. LIEBER, J.E. HESSE, K. MIZUUCHI, and M. GELLERT: Studies of V(D)J Re
combination with Extrachromosomal Substrates. With 4 Figures .........••...... 94
C.L. PETERSON, B. TSAO, E. KAKKIS, and K.L. CALAME: Transcription Factors in
Terminally Differentiated B Cells. With 4 Figures ..•....•....•...........•... 100
A. TUTTER and R. RIBLET: Selective and Neutral Evolution in the Murine Igh-V
Locus. With 7 Figures .•...•.••......••...••.......................•..•~ .. 107
L. D'HOOSTELAERE, K. HUPPI, B. MOCK, C. MALLETT, D. GIBSON, J. HILGERS, and
M. POTTER: The Organization of the Immunoglobulin Kappa Locus in Mice.
With 1 Figure ...............................................•................ 116
S.R. BAUER, L.A. D'HOOSTELAERE, and F. MELCHERS: Conservation of the Organiza
tion of the pre-B Cell Specific VpreB1/VpreB2/A5 Loci in the Genus Mus.
With 1 Figure .....................................................- =-:-:-........ 130
S. PILLAI and D. BALTIMORE: The Omega and Iota Surrogate Immunoglobulin Light
Chains. With 1 Figure .........................•.............•................ 136
J.S. WEBER and G. JAY: MHC Class I Gene Expression by Tumors: Immunothera-
peutic Impl ications .......•.•..............•....................•...•........ 140
D.S. SINGER and R. EHRLICH: Identification of Regulatory Elements Associated
with a Class I MHC Gene. With 1 Figure ....................................... 148
G.M. PETERMAN, R. SINGHAl, A. DEAN, and F.L. OWEN: Tind, Tsu and Tthy form a
Trimolecular Complex Encoded Within the Tsu Locus on Chromosome 12 of the
Mouse. With 7 Figures ........................................................ 155
III. Allelomorphic and Mutant Phenotypes
Immunologically Related Loci
S.N. VOGEL and M.J. FULTZ: Lps Gene-Associated Functions. With 3 Figures 165
C.A. JANEWAY, Jr.: The Immunobiology of the T Cell Response to Mis Locus
Disparate Stimulator Cells ....................................- =-:-:-............ 171
R. ABE and R.J. HODES: Genetic Analysis of Serologically Undefined Determi-
nants: A T Cell "Clonological" Analysis of the System .................... 177
~
V.M. CHAPMAN, S.G. GRANT, R.A. BENZ, D.R. MILLER, and D.A. STEPHENSON:
X-Chromosome Linked Mutations Affecting Mosaic Expression of the Mouse
X Chromosome. With 2 Figures ................................................. 183
J.D. ANSELL, V.M. CHAPMAN, L.M. FORRESTER, D.J. FOWLIS, C. MacKENZIE, and
H.S. MICKLEM: Mosaic Analysis of the Effects of a Novel X-Chromosome
Mutation on the Haematopoietic System. With 4 Figures ........................ 191
IX
Autoimmunity
M.J. BOSMA, W. SCHULER, and G. BOSMA: The scid Mouse Mutant. With 1 Figure ..• 197
M.G. KIM, W. SCHULER, M.J. BOSMA, and K.B. MARCU: Aberrant Igh Locus Rear
rangements in A-MuLV pre B Lines of scid Mice: Evidence for Deregulated D-J
Recombination. With 3 Figures •••.••~ ••••.••••••••••••..••••••••••.••••••.• 203
A.B. HARTMAN, C.P. MALLETT, J. SRINIVASAPPA, B.S. PRABHAKAR, A.L. NOTKINS, and
S.J. SMITH-GILL: VH Family Usage and Binding Analyses of Polyreactive Mono
clonal Autoantibodies Derived from Nonimmunized Adult BALB/c Mice.
With 1 Figure ...•.••••.•••••..•••...•..•.••.•..••••....•••.•.•..•.••••.•...•• 211
L.D. SHULTZ: Pleiotropic Effects of Deleterious Alleles at the "Motheaten"
Locus ..•.•••...•....•••.••...•.•.•••••••••........•••••...•..•.•.•.••..•••... 216
P.A. SCHWEITZER and L.D. SHULTZ: Characterization of Mott Cell Hybridomas from
Autoimmune "Viable Motheaten" Mutant Mice. With 1 Figure .......•...•.•••..•.• 223
M.F. SELDIN, H.C. MORSE III, and A.D. STEINBERG: A Molecular Genetic Approach
to.[!i "Autoimmune" Disease. With 2 Figures ..•..•..•..•..••••••.•.•.•...•..•. 227
C. TEUSCHER, E.P. BLANKENHORN, and W.F. HICKEY: Genetic Analysis of BALB/cJ
Subline Resistance to Actively Induced Experimental Allergic Orchitis (EAO)
and Experimental Allergic Encephalomyelitis (EAE) .•...............•........•. 233
Neoplasia
S.T. ISHIZAKA and F. LILLY: Genetic Control of Murine Susceptibility to
3-Methylcholanthrene-Induced T Cell Lymphoma .•..•...........•......•..•...•.. 240
D. FLEISZER, J. HILGERS, and E. SKAMENE: Multigenic Control of Colon Carcino
genesis in Mice Treated with 1,2-Dimethylhydrazine. With 1 Figure ......•..... 243
C.J. VILLAR, T.N. FREDRICKSON, and C.A. KOZAK: Effect of the Gv-1 Locus on
Moloney Ecotropic Murine Leukemia Virus Induced Disease in Inbred and Wild
Mice. With 2 Figures ....•...•...•...•.....•....•.•........................... 250
N.M.B. AMARI, S. SCANDALIS, D. ZHANG, C.L. PAMPENO, S. ARANT, and D. MERUELO:
Reverse Genetics Approaches for Cloning RIL-1, a Major Locus Involved in
Susceptibility to Leukemia. With 5 Figur~ ..............•..•..•.•..••...... 256
E.P. BLANKENHORN, R. DUNCAN, C. TEUSCHER, and M. POTTER: Genetic Map Location
of Afr-1: Results From Four Genetic Crosses .......••••.........•.•.•....•.... 264
L. BYRD, M. POTTER, B. MOCK, and K. HUPPI: The Effect of the nude Gene on
Plasmacytoma Development in BALB/cAn Mice. With 1 Figure .•... ~ ......•...... 268
K. HUPPI, B. MOCK, P. SCHRICKER, L.A. D'HOOSTELAERE, and M. POTTER: Organi-
zation of the Distal End of Mouse Chromosome 4. With 3 Figures ...•........... 276
M. POTTER, K.K. SANFORD, R. PARSHAD, K. HUPPI, and B. MOCK: Susceptibility
and Resistance to Plasmacytomagenesis: Possible Role of Genes That Modify
Efficiency of Chromatin Repair. With 2 Figures .•...•.•...................•..• 289
B. MOCK and M. POTTER: A Molecular Characterization of BALB/c Congenic C.D2-
Idh-1b, Lshr, Rep-1b, Pep-3b Mice. With 1 Figure ........................•.... 295
x
Infectious Diseases
J.M. BLACKWELL, S. TOOLE, M. KING, P. DAWDA, T.I.A. ROACH, and A. COOPER:
Analysis of ~ Gene Expression in Congenic B10.L-Lshr Mice. With 3 Figures 301
E. SCHURR, E. SKAMENE, M. NESBITT, R. HYNES, and P. GROS: Identification of a
Linkage Group Including the Gene by Restriction Fragment Length Poly-
~
morphism Analysis. With 1 Figure .....•.............•....•..................•. 310
B.S. ZWILLING, M.. MASSIE, L. VESPA, M. KWASNIEWSKI, J. NATH, and W. LaFUSE:
Continuous Expression of I-A by Murine Peritoneal Macrophages IS Linked to the
Gene. With 2 Figures .......•............................................. 316
~
M.M. STEVENSON, M.N. NESBITT, and E. SKAMENE: Chromosomal Location of the
Gene Determining Restistance to Plasmodium chabaudi AS ...................... 325
Summary
B. MOCK, S.D.M. BROWN, C. JANEWAY, H.C. MORSE III, and M. POTTER: From Pheno
type to Gene: A Molecular Analysis of Complex Loci Involved in Developmental
and Immunological Dysregulation ........................•..................... 329
Indexed in Current Contents
List of Contributors
You will find the adresses at the beginning of the respective contribution
ABE, R. 177 HEYNINGEN, V. van 41 iPAMPENO, C.L. 256
AMARI, N.M.B. 256 HICKEY, W.F. 233 PARSHAD, R. 289
ANSELL, J.D. 191 HILGERS, J. 116, 243 PETERMAN, G.M. 155
ARANT, S. 256 HODES, R.J. 177 PETERSON, C.L. 100
AVNER, P.R. 13 HOGAN, B.L.M. 87 PHILLIPS, S.J. 70
BALTIMORE, D. 136 HOLLAND, P.W.H. 87 PILLAI, S. 136
BAUER, S.R. 130 HUPPI, K. 116, 268, 276, POLLAK, M. 25
BENZ, R.A. 183 289 PORTEOUS, D.J.: 41
BICKMORE, W. 41 HYNES, R. 310 POTTER, M. 116, 264, 268,
BLACKWELL, J.M. 301 ISHIZAKA, S.T. 240 276, 289, 295, 329
BLANK, R.D. 25 ISLAM, M.Q. 33 POUSTKA, A. 47
BLANKENHORN, E.P. 233, 264 JANEWAY, C.A. 171, 329 PRABHAKAR, B.S. 211
BOSMA, G. 197 JAY, G.140 REINER, A.H. 39
BOSMA, M.J. 197, 203 KAKK IS, E. 100 RIBLET, R. 107
BROCKDORFF, N. 3 KASAHARA, M. 55 ROACH, T.I.A. 301
BROWN, S.D.M. 3, 329 KESSEL, M. 82 ROHME, D. 47
BYRD, L. 268 KIM, M.G. 203 RUSSELL, L.B. 47
CALAME, K.L. 100 KING, M. 301 SANFORD, K.K. 289
CAMPBELL, G.R. 25 KLEIN, J. 55 SCANDALIS, S. 256
CAVANNA, J.S. 3 KOZAK, C.A. 250 SCHRICKER, P. 276
CHAPMAN, V.M. 18, 183, 191 KRUMLAUF, R. 87 SCHULER, W. 197, 203
COOPER, A. 301 KWASNIEWSKI, M. 316 SCHURR, E. 310
DAWDA, P. 301 LaFUSE, W. 316 SCHWEITZER, P.A. 223
DEAN, A. 155 LEHRACH, H. 47, 77 SCOLESE, A.E. 18
D'EUSTACHIO, P. 25 LEVAN, G. 33 SELDIN, M.F. 227
0' HOOSTELAERE, L. 116, 130, LIEBER, M.R. 94 SHULTZ, L.D. 216, 223
276 LILLY, F. 240 SILVER, L.M. 64
DUNCAN, R. 264 LUMSDEN, A. 87 SIMON-CHAZOTTES, D. 13
EHRLICH, R. 148 LYON, M.F. 3 SINGER, D.S. 148
ERHART, M.A. 70 MacKENZIE, C. 191 SINGHAl, R. 155
FI BI, M. 82 MALLETT, C. 116, 211 SKAMENE, E. 243, 310, 325
FIGUEROA, F. 55 MARCU, K.B. 203 SMITH-GILL, S.J. 211
FISHER, E.M.C. 3 MASSIE, M. 316 SRINIVASAPPA, J. 211
FLEISZER, D. 243 MAULE, J. 41 STEINBERG, A.D. 227
FORRESTER, L. M. 191 MELCHERS, F. 130 STEPHENSON, D.A. 18, 183
FOWLIS, D.J. 191 MERUELO, D. 256 STEVENSON, M.M. 325
FREDRICKSON, T.N. 250 MICKLEM, H.S. 191 STUBBS, L. 47
FULTZ, M.J. 165 MILLER, D.R. 183 SZPIRER, C. 33
GELLERT, M. 94 MIZUUCHI, K. 94 SZPIRER, J. 33
GIBSON, D. 116 MOCK, B. 116, 268, 276, TEUSCHER, C. 233, 264
GRAHAM, A. 87 289, 295, 329 TOOLE, S. 301
GRANT, S.G. 18, 183 MORSE III, H.C. 227, 329 TSAO, B. 100
GREENFIELD, A.J. 3 MULLINS, L.J. 18 TUTTER, A. 107
GROS, P. 310 NADEAU, J.H. 39, 70 VESPA, L. 316
GRUSS, P. 82 NASIR, J. 3 VILLAR, C.J. 250
GUENET, J.L. 13 NATH, J. 316 VINCEK, V. 55
HARTMAN, A.B. 211 NESBITT, M.N. 310, 325 VOGEL, S. N. 165
HASTIE, N.D. 41 NOTKINS, A.L. 211 WEBER, J.S. 140
HEESE, J.E. 94 O'REILLY, A.J. 18 ZHANG, D. 256
HERRMANN, B.G. 77 OWEN, F.L. 155 ZWILLING, B.S. 316
I. LocaIizing and Cloning Genes