Table Of ContentGENE EXPRESSION
IN MUSCLE
ADVANCES IN EXPERIMENTAL MEDICINE AND BIOLOGY
Editorial Board:
NATHAN BACK, State University of New York at Buffalo
NICHOLAS R. DI LUZIO, Tulane University School of Medicine
EPHRAIM KATCHALSKI-KATZIR, The Weizmann Institute of Science
DAVID KRITCHEVSKY, Wistar Institute
ABEL LAJTHA, Rockland Research Institute
RODOLFO PAOLETTI, University of Milan
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GENE EXPRESSION IN MUSCLE
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GENE EXPRESSION
IN MUSCLE
Edited by
Richard C. Strohman
University of California
Berkeley, California
and
Stewart Wolf
Totts Gap Medical Research Laboratories
Bangor, Pennsylvania, and
Temple University
Philadelphia, Pennsylvania
PLENUM PRESS • NEW YORK AND LONDON
Library of Congress Cataloging in Publication Data
Totts Gap Colloquium on Gene Expression in Muscle (1983: Bangor, Pa.)
Gene expression in muscle.
(Advances in experimental medicine and biology; v. 182)
"Proceedings of the Totts Gap Colloquium on Gene Expression in Muscle, held Oc
tober 12-14, 1983, in Bangor, Pennsylvania, under the sponsorship of the Muscular
Dystrophy Association" - T.p. verso.
Bibliography: p.
Includes index.
I. Muscular dystrophy in children-Genetic aspects-Congresses. 2. Gene expres
sion-Congresses. 3. X chromosome-Abnormalities-Congresses. 1. Strohman,
Richard C. II. Wolf, Stewart, 1914- . III. Muscular Dystrophy Association. IV. Ti
tle. V. Series. [DNLM: I. Gene Expression Regulation-congresses. 2. Genetic Marker
-congresses. 3. Muscles-embryology-congresses. 4. Muscular Dystrophy-familial
& genetic-congresses. WI AD559 v.182/WE 559 T7212g 1983)
RJ482.D9T68 1983 618.92'74 84-26468
ISBN-13: 978-1-4684-4909-9 e-ISBN-13: 978-1-4684-4907-5
001: 10/1007/978-1-4684-4907-5
Proceedings of the Totts Gap Colloquium on Gene Expression in Muscle,
held October 12-14, 1983, in Bangor, Pennsylvania,
under the sponsorship of the Muscular Dystrophy Association
© 1985 Plenum Press, New York
Softcover reprint of the hardcover 1s t edition 1985
A Division of Plenum Publishing Corporation
233 Spring Street, New York, N.Y. 10013
All rights reserved
No part of this book may be reproduced, stored in a retrieval system, or transmitted
in any form or by any means, electronic, mechanical, photocopying, microfilming,
recording, or otherwise, without written permission from the Publisher
PREFACE
This volume contains the edited transcript of an interdisci
plinary colloquium held at Totts Gap Medical Research Laboratories,
Bangor, Pennsylvania on October 12-14, 1983 under the sponsorship
of the Muscular Dystrophy Association.
The aim was to illuminate the pathogenic mechanism of Duchenne
Muscular Dystrophy through a synthesis of available data on gene
expression in muscle. In the informal give and take ot the collo
quium, the participants found themselves engaged in mutual education
and enlightenment as they attempted to put together what is known
and to highlight what is not known about the subject.
Significant research into muscle as a tissue and muscle disease
began only about 50 years ago although the description of muscular
dystrophy by Guillaume Benjamin Amand Duchenne de Boulogne had been
published in 1862. By 1943 it was clear that Duchenne muscular
dystrophy was an X-linked genetic disorder. Up to the present,
however, the offending gene has not been identified although its
location on the short arm of the X chromosome has been approximately
determined. The gene product associated with the initial disturbance
in skeletal muscle has also remained elusive up to now. Moreover,
investigations into the mechanisms of the muscle degeneration have
been hampered by ignorance of the fundamental phenotypic expression
of the genetic disorder. The pathological picture of muscle degen
eration with fat and collagen replacement of muscle cells is familiar,
but as yet there has been no clear identification of the initial
lesion. It has not even been established whether the basic distur
bance is impaired control of muscle growth, accelerated catabolism
in muscle cells, or defective structural or contractile protein
synthesis. Most investigators believe that the flagrant morphologic
changes seen in muscle biopsies of even early cases of dystrophy
are secondary to a more unitary and fundamental disorder of gene
expression. It is known that approximately 1/3 of cases of Duchenne
Muscular Dystrophy are the result of a new mutation, presumably in
the grandparents, that is passed along to the patient's mother.
Ihis high rate of mutation encourages the speculation that the
disorder involves a single gene. Although the clearest phenotypic
v
vi PREFACE
marker, increased serum concentration of creatine kinase. is usually
detectable at birth and often in the amniotic fluid of the fetus,
morphologic changes in muscle have not been detected prior to the
onset of symptoms at age 2-4.
The elusiveness of the initial lesion in vivo has led investi
gators to seek it in cultures of developing-;uscle cells. Work
with these cultures has uncovered much knowledge of myoblast
differentiation and muscle cell maturation but has shown the process
to be unexpectedly complex. Although gene expression in muscle
proteins has been observed to vary from the embryonic state to the
neonatal and to the adult form, the morphological characteristics
of embryonic fibers are indistinguishable from their neonatal and
adult counterparts. Nevertheless, the different muscle protein
isoforms must represent the expression of different genes or at
least different gene transcript processing for some proteins.
The pertinent data and interpretations from a variety of
approaches to these problems have been arranged in the following
chapters in what we hope is a logical sequence.
The editors acknowledge with thanks the invaluable assistance
of Joy Colarusso Lowe, who with skill, patience and precision,
produced the manuscript for publication.
Richard Strohman
Stewart Wolf
CONTENTS
PART I - BACKGROUND
CHAPTER 1: CLINICAL PERSPECTIVE: PHENOTYPIC EXPRESSION
IN MUSCULAR DYSTROPHY 3
L.P. Rowland ............................... .
CHAPTER 2: ONTOLOGIC PERSPECTIVE: TERMINAL DIFFEREN
TIATION AND MATURATION AS DIFFERENTLY REGU
LATED STAGES OF MUSCLE DEVELOPMENT.
R.C. Strohman and S. Wolf ••••••••••••••••••• 15
PART II - PHENOTYPIC EXPRESSION AND MOLECULAR MARKERS FOR
MUSCLE DISEASE
CHAPTER 3: HEREDITARY METABOLIC MYOPATHIES
A.F. Miranda, T. Mongini and S. DiMauro 25
CHAPTER 4: MYOSIN ISOFORMS IN NORMAL AND DYSTROPHIC
HUMAN AND MURINE MUSCLES J.F •Y . Hoh and
R.B. Fitzsimons 43
CHAPTER 5: DISTRIBUTION OF SLOW MYOSIN IN DYSTROPHIC
CHICKEN MUSCLES E. Bandman ••••••••••••••••• 63
CHAPTER 6: SATELLITE CELLS IN NORMAL, REGENERATING
AND DYSTROPHIC MUSCLES E. Schultz ••••••••• 73
CHAPTER 7: EVIDENCE FOR DEFECTIVE MYOBLASTS IN DUCHENNE
MUSCULAR DYSTROPHY H.M. Blau, C. Webster,
G.K. Pavlath and C-P. Chiu •••••••••••••••••• 85
PART III - REGULATORY INFLUENCES ON MUSCLE GROWTH
CHAPTER 8: TROPHIC INFLUENCES ON DEVELOPING MUSCLE
S. Hauschka, R. Lim, C. Clegg,
J. Chamberlain, C. Bulinski and T. Linkhart. 113
CHAPTER 9: TROPHIC AND MYOGENIC EFFECTS WITH SPECIAL
REFERENCE TO TRANSFERRIN E. Ozawa •••••••••• 123
vii
viii CONTENTS
CHAPTER 10: STIMULATION OF THE SYNTHESIS OF FRUCTOSE
1,6-DIPHOSPHATE ALDOLASE BY TRANSFERRIN
T.H. Oh, G.J. Markelonis, T. Dion Guidera,
S.L. Hobbs and L.P. Park ••••••••••••••••••••• 129
CHAPTER 11: MYOTROPHIC FACTOR(S) IN NORMAL AND DYSTROPHIC
CHICKEN SKELETAL MUSCLE R. Matsuda and
R.C. Strolunan ................................ 137
CHAPTER 12: CONTROL OF MYOSIN ISOZYMES DURING MYOGENESIS
IN THE RAT N.A. Rubinstein, G.E. Lyons,
B. Gambke and A. Kelly ••••••••••••••••••••••• 141
CHAPTER 13: INFLUENCES OF TESTOSTERONE ON CONTRACTILE
PROTEINS OF THE GUINEA PIG TEMPORALIS MUSCLE
A. Kelly, G. Lyons, B. Gambki and N.
Rubinstein ....•...........•...•..•.....•..... 155
CHAPTER 14: ALTERATIONS IN PHENOTYPE EXPRESSION OF
MUSCLE BY CHRONIC NERVE STIMULATION D. Pette,
A. Heilig, G. Klug, H. Reichmann, U. Seedorf
and W. Wiehrer ..••..••...............•....•... 169
CHAPTER 15: INDUCTION OF INCOORDINATE SYNTHESIS OF MUSCLE
PROTEINS BY THE TUMOR PROMOTER TPA AND THE
CARCINOGEN EMS H. Holtzer, S. Forry-
Schaudies, P. Antin, G. Dubyak and V. Nachmias. 179
CHAPTER 16: SYNTHESIS AND ACCUMULATION OF MYOSIN ISOZYMES
IN TISSUE CULTURE R.G. Whalen, L.B. Bugaisky,
G.S. Butler-Browne, M.S. Ecob and C. Pinset ••• 193
PART IV - REGULATING EXPRESSION OF PROTEIN ISOFORMS
CHAPTER 17: OVERVIEW: D.A. Fischman, D. Bader
and T. ,Obinada •••••.••••••••..••••••••••••.•.• 203
CHAPTER 18: MYOSINS A & B IN THE ORGANIZATION OF
MYOFILAMENTS H.F. Epstein ••••••••••••••••••• 215
CHAPTER 19: A SET OF ACTIN-FILAMENT ASSOCIATED PROTEINS
CHARACTERIZED BY QUANTITATIVE TWO-DIMENSIONAL
GEL ELECTROPHORESIS J.I. Garrels, S. Yama
shiro-Matsumura, J.J.-C. Lin and F. Matsumura. 223
CHAPTER 20: MUSCLE GENE EXPRESSION IN HETEROKARYONS
H.M. Blau, C-P. Chiu, G.K. Pavlath and
c. Webster .••.••.•.••..••.•...•...•..•••..•••. 231
CONTENTS ix
CHAPTER 21: MYOSIN ISOZYME TRANSITIONS IN DEVELOPING
AND REGENERATING RAT MUSCLE R.G. Whalen,
G.S. Butler-Browne, L.B. Bugaisky, J.B.
Harris and D. Her1iocoviez ••••••••••••••••••• 249
CHAPTER 22: MYOSIN EXPRESSION DURING REGENERATION AND
IN DENERVATED SKELETAL MUSCLE
R.C. Strohman and R. Matsuda ••••••••••••••••• 259
CHAPTER 23: PARVALBUMIN REDUCTION IN RELATION TO
POSSIBLE PERTURBATIONS OF CA2+ HOMEOSTASIS
IN MUSCULAR DYSTROPHY D. Pettet G. K1ug
and H. Reichmann ••••.•••••.••••••.•••.••••••• 265
CHAPTER 24: MYOSIN ISOZYMES IN DEVELOPING CHICKEN
MUSCLES S. Lowey ••••••••••••••••••••••••••• 269
PART V - RECOMBINANT DNA APPROACHES IN THE INVESTIGATION
OF MUSCLE GENE EXPRESSION
CHAPTER 25: INTRODUCTION H.F. Epstein •••••••••••••••••• 283
CHAPTER 26: GENETIC ANALYSIS OF DUCHENNE DYSTROPHY
L. Kunkel, G. Bruns, J. Aldrige and
s. Latt •.•••..•...•..•..•...••.•.•••......•.. 287
CHAPTER 27: THE CHROMOSOMAL ASSIGNMENT OF MUSCLE
SPECIFIC GENES D. Yaffe, U. Nude1,
H. Czosnek, D. Me11ou1 and B. Aloni •••••••••• 295
CHAPTER 28: EXPRESSION OF ISOFORMS FROM CLONED
SKELETAL AND CARDIAC ACTIN GENES
L.R. Kedef;l ••••••••••••••••••••••••••••••••••• 309
CHAPTER 29: THE ACTIN AND MYOSIN MULTIGENE FAMILIES
M. Buckingham, S. Alonso, G. Bugaisky,
P. Barton, A. Cohen, P. Daubas, A. Minty,
B. Robert and A. Weydert ••••••••••••••••••••• 333
CHAPTER 30: MULTIGENE FAMILIES, DIFFERENTIAL TRANS
CRIPTION AND DIFFERENTIAL SPLICING:
DIFFERENT ORIGIN OF CONTRACTILE ISOPROTEINS
IN MUSCLE E.E. Strehler •••••••••••••••••••• 345
PART VI - SUMMARY AND SYNTHESIS
CHAPTER 31: SUMMARY AND SYNTHESIS R.R. Howell 359
x CONTENTS
.........................................................
CODA 363
REFERENCES ••••••••••••••••••••••••••••••••••••••••••••••••••• 367
PARTICIPANTS 427
INDEX •••••••••••••••••••••••••••••••••••••••••••••••••••••••• 431
