Results and Problems in Cell Differentiation. Series Editor: Hennig

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1 Results and Problems in Cell Differentiation Series Editor: w. 38 Hennig

2 Springer-Verlag Berlin Heidelberg GmbH

3 Beate Brand-Saberi (Ed.) Vertebrate Myogenesis With 31 Figures Springer

4 Professor Dr. Beate Brand-Saberi Institute of Anatomy II Albert Ludwigs University Freiburg AlbertstraBe Freiburg Germany ISSN ISBN ISBN (ebook) DOI / Library of Congress Cataloging-in-Publication Data Vertebrate myogenesis / Beate Brand-Saberi (ed.). - Berlin; Heidelberg : New York: Barcelona ; Hong Kong : London ; Milan ; Paris: Tokyo: Springer, 2002 (Results and problems in cell differentiation ; 38) This work is subject to copyright. Ali rights reserved, whether the whole or part of the material is concerned, specifically the rights of translation, reprinting, reuse of illustrations, recitation, broadcasting, reproduction on microfilm or in any other way, and storage in data banks. Duplication of this publication or parts thereof is permitted only under the provisions of the German Copyright Law of September 9, 1965, in its current version, and permission for use must always be obtained from Springer-Verlag. Violations are liable for prosecution under the German Copyright Law. Springer-Verlag Berlin Heidelberg 2002 Originally published by Springer-Verlag Berlin Heidelberg New York in 2002 Softcover reprint ofthe hardcover Ist edition 2002 The use of general descriptive names, 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. Cover concept: Meta Design, Berlin, Germany Cover production: Design & Production, Heidelberg, Germany Typesetting: SNP Best-set Typesetter Ltd., Hong Kong SPIN / I 0- Printed on acid-free paper

5 Preface Muscle development of vertebrates has been a paradigm of cell differentiation for many years. Three types of muscle are found in the vertebrate body: skeletal, heart and smooth muscle, and there has been a gradient of concern about these different muscle types in the sequence they are mentioned here. Skeletal muscle has received much attention because it can be induced to differentiate in vitro and because of the clinical relevance of myopathies. The discovery of the muscle-specific members of the bhlh and MADS families of transcription factors must be regarded as a breakthrough not only in muscle research and have opened new insights into the genetic control of differentiation. Consequently, the effects of gene-targeting of the MyoD-related (myfs) and MEF transcription factors soon became objects of investigation. Along with the genetic control of skeletal and heart muscle development, the temporal-spatial appearance of cells fated to become myocytes has been of foremost interest. The source of all skeletal muscle of the trunk is the paraxial mesoderm, which gives rise to metameric entities, the somites. The somite can be regarded as a turntable of mesodermal cell fates, chondrocytes, fibroblasts, angioblasts and skeletal muscle precursors. The coordinated development of these derivatives is tightly controlled by local tissue interactions between embryonic structures such as the neural tube, the notochord, the lateral plate and the ectoderm. In this connection, two populations of muscle precursor cells must be distinguished: those for the early differentiating epaxial muscle and those for the subsequently developing hypaxial muscle including limb muscle precursors. In the case of the latter, questions of cell migration, inhibition of differentiation and local patterning have been addressed, and molecules participating in each of these steps were characterized. The histological grouping into skeletal, heart and smooth muscle is paralleled by an underlying difference in the expression of transcription factors. While, the myfs are restricted to the precursors of skeletal muscle, the MEFs are mutually expressed in the two striated groups, skeletal and heart muscle. Recent findings have indicated both common and distinct pathways of the two. Among the latter, Nkx 2.5 and GATA4 occupy prominent positions. Mutations in the evolutionary highly conserved Nkx 2.5 gene result in heart malformations, congenital atrioventricular conduction defects and ventricular dysfunction in humans. Cardiomyocyte differentiation is intricately linked with heart morphogenesis and further analysis of heart development and malformation will be of high clinical relevance.

6 VI Preface Likewise, clinical implications will be one driving force for enhancing our insights into the development of the third muscle type, smooth muscle. This type is found in the digestive, respiratory and urogenital organs and in the wall of blood vessels. However, its significance in pathological processes is balanced by the difficulties that this cell type presents to the investigator: First, the borderline between the undifferentiated and differentiated state in smooth muscle cells is blurred. Secondly, specific marker molecules are rare. Finally, smooth muscle has the highest plasticity as far as its phenotype is concerned. Therefore, I am particularly pleased that it has been possible to include into this volume recent findings concerning the control of smooth muscle development. We have reason to be confident that smooth muscle development is about to emerge from its gloomy existence as a stepchild of muscle research. Only when regarding the three, skeletal muscle, heart muscle and smooth muscle, will we begin to realize the process of muscle differentiation in all its facets, including the embryological and the evolutionary ones. Furthermore, I wish to stress that the collection and discussion of novel functional data come to life especially when morphological documentation is given room. The combination of these aspects makes this volume intellectually and scientifically attractive. This is why I wish to express my thanks to all contributors for their efforts and enthusiasm, which is witnessed by their excellent articles. I am grateful to Bodo Christ for participation in reviewing the contributions, and to Ernst-Martin Fiichtbauer for helpful comments on the assembly of the volume. My thanks are due to Ulrike Uhl for assistance in the correspondence with the authors. BEATE BRAND-SABERI Freiburg, February 2002

7 Contents Development of Visceral Smooth Muscles G. Gabella 1 Early Appearance of Smooth Muscles Timing of Smooth Muscle Development Morphology of Developing Smooth Muscles Cytological Differentiation Chemical Differentiation Growth of Visceral Smooth Muscles Cell Division and Increase in Cell Number Extracellular Materials and Vascularization Origin of Smooth Muscle Precursors Influence of Endothelium, Epithelium, Connective Tissue and Nerves on Smooth Muscle Development Role of Endothelium and Epithelium Role of Mesenchymal Cells and the Extracellular Matrix Role of Nerves Development of Mechanical Activity Related Processes of Development and Growth Synopsis References Mammalian Smooth Muscle Differentiation: Origins, Markers and Transcriptional Control J.M. Miano 1 Introduction Smooth Muscle Cell Ontogeny Evolutionary Concepts Embryological Origins of SMC Models for Studying SMC Differentiation Molecular Definitions of Smooth Muscle Cell Lineages SMC-Restricted Markers SMC-Restricted Promoter Activity Future Perspectives References... 51

8 VIII Contents The Genetics of Murine Skeletal Muscle Biogenesis S. Tajbakhsh 1 Introduction The Restriction of Cell Fate and Views on Cell Determination The Somite Is a Source of Multiple Cell Types The Acquisition of Cell Fate in the Somite: MyfS and Myod Confer Skeletal Muscle Identity Subpopulations of Stem Cells Migrate from the Somite to the Limb Extrinsic Factors Direct Cell Identity in the Somite Manipulations of the Myf5 Locus and Distal Rib Phenotypes: the Complexities of Gene Regulation Conclusions References Somite Patterning: a Few More Pieces of the Puzzle C. Marcelle, C. Lesbros, and C. Linker 1 Introduction Segmental Plate Morphology Somite Differentiation Muscle Formation Epaxial and Hypaxial Muscle Derivatives A Distinct Embryonic Origin for Epaxial and Hypaxial Muscles? Epaxial Muscle Formation Hypaxial Muscle Formation A Second Wave of Proliferative Muscle Progenitors Dermis Formation Tissue and Molecular Regulation of Somite Differentiation The Notochord and Floor Plate Exert a Ventralizing Activity on the Somite: a Role for Sonic Hedgehog? Dorsalizing Activity of Wnt Molecules in the Dorsal Ectoderm and Neural Tube Tissue and Molecular Regulation of Myogenesis: an Instructive or Permissive Process? Conclusion References

9 Contents IX Transcription Factors in Skeletal Myogenesis of Vertebrates P. Neuhaus and T. Braun 1 Myogenesis Determination and Differentiation of Muscle Precursor Cells MRFs Myf III MyoD Myogenin MRF MEF2 Transcription Factors Hypaxial Muscle Development Pax Lbxl Mox Regeneration of Skeletal Muscle MRFs Pax MNF Perspectives References Hypaxial Muscle Development G. Parkyn, R.C. Mootoosamy, L. Cheng, C. Thorpe, and S. Dietrich 1 Introduction Developmental Anatomy of Trunk Skeletal Muscles in Amniotes Markers for Hypaxial Muscle Precursors Specification of Hypaxial Muscle Precursors Cues from the Lateral Mesoderm Cues from the Surface Ectoderm Master Regulator Pax Specification of Migratory Muscle Precursors Somitic Competence Localized Lateral Signals for the Recruitment of Limb Muscle Precursors The Role of Scatter Factor/Hepatocyte Growth Factor and cmet in the Delamination of Migratory Muscle Precursors The Role of Lbxl in Target Recognition of Limb Muscle Precursors Building a Regulatory Network for Hypaxial Muscle Development References

10 x Contents Inhibition of Skeletal Muscle Development: Less Differentiation Gives More Muscle E.-M. Fiichtbauer 1 Introduction Secreted Signalling Molecules Fibroblast Growth Factor Family Transforming Growth Factor f3 Superfamily Extracellular Matrix Transcription Factors Notch Twist Id Msxl Summary References Control of Muscle Size During Embryonic, Fetal, and Adult Life K. Patel, B. Christ, and F.E. Stockdale 1 Introduction Somite Patterning and Specification of Myogenic Cells Allocation of Cells to the Dorsal Somite Compartment Migration of Muscle Precursor Cells Balance Between Proliferation and Differentiation Muscle Growth in the Embryonic, Fetal, and Neonatal Periods of Development Embryonic and Fetal Muscle Fibers Embryonic, Fetal, and Adult Myoblasts Number of Embryonic and Fetal Myoblasts and Fiber Formation Innervation and Muscle Fiber Number and Size Muscle Hypertrophy and Regeneration Programmed Cell Death During Muscle Development Recruitment of Myogenic Cells from Adult Pluripotent Stem Cells References Cadherins in Skeletal Muscle Development Z. Waibler and A. Starzinski-Powitz 1 Cadherins Cadherin Structure and Interactions Cadherins and Catenins Cadherins in Myogenesis M-Cadherin

11 Contents XI 2.2 N-Cadherin R-Cadherin Summary and Outlook References Slow Myosins in Muscle Development EE. Stockdale, W. Nikovits, Jr., and N.R. Espinoza 1 Introduction Myosin Heavy Chain Genes Slow Myosin Heavy Chain Genes in Avian Skeletal Muscle Slow Myosin Heavy Chain Genes in Mammalian Skeletal Muscle Slow MyHC Genes in Fish Skeletal Muscle Hedgehog Family of Signaling Molecules and Slow Myosin Expression in Skeletal Muscle Development Innervation and Calcineurin Responsive Pathways and the Control of Slow MyHC Expression in Skeletal Muscle Slow MyHC Expression in the Developing Heart Summary References Molecular Characterization of Early Cardiac Development T. Brand, B. Andree, and T. Schlange 1 Introduction Molecular Control of Heart Field and Tubular Heart Formation Conserved Regulatory Circuits Control Heart Field Formation in Insects and Vertebrates Heart Field Formation in Vertebrates Heart Formation in Insects Nkx Homeobox Genes GATA Genes Hypoblast and Anterior Endoderm Are Involved in Myocardial Specification and Differentiation Identification of Signalling Molecules Involved in Cardiac Specification and Differentiation The Role of BMP2 in Heart Induction Other Cardiogenic Signals Wnt Signals Interfere with Heart Formation in Vertebrates FGF Cooperates with BMP Cerberus Cripto Heart Tube Formation

12 XII Contents 3 Molecular Control of Cardiac Chamber Formation Transcriptional Regulators of Chamber Formation Cell-Cell Interaction in Chamber Formation Popeye Genes - a Novel Family of Muscle-Restricted Genes References Subject Index