T-box Genes in Development and Disease

T-box Genes in Development and Disease

1st Edition - January 2, 2017

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  • Editor: Manfred Frasch
  • Hardcover ISBN: 9780128013809
  • eBook ISBN: 9780128016138

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T-box Genes in Development and Disease looks at the genes encoding the T-box family of transcription factors function as key regulators of many important decision processes during embryonic and tissue development. The importance of these genes is further underlined by the fact that most members of this gene family have been conserved during evolution from worms to humans. This book brings together the current information on conserved aspects with the evolutionary innovations of the functions of these genes during developmental regulation in various animal species and then discusses their important roles in human disease.

Key Features

  • Brings together current knowledge from a wide variety of animal species and humans
  • Presents commentary from authoritative experts, and includes many prominent scientists and their research
  • Illuminates the connections between developmental biology, evolution, and human disease
  • Allows researchers and newcomers to this research area to gain a thorough picture of the current knowledge


Developmental biologists at all levels working on both vertebrate and invertebrate systems, as well as for clinician-researchers and human geneticists who are interested in the developmental and molecular basis of human disease

Table of Contents

  • Chapter One: Evolution and Classification of the T-Box Transcription Factor Family

    • Abstract
    • 1 An Updated Phylogenetic Classification of the T-Box Gene Family
    • 2 Premetazoan T-Box Genes
    • 3 Metazoan T-Box Classes and Function
    • 4 Functional Conservation of Premetazoan and Early-Metazoan Brachyury Homologs
    • 5 Ancestral Conserved Role of Brachyury in Morphogenetic Movements
    • 6 The Evolution of T-Box Regulation
    • Acknowledgments

    Chapter Two: The Remarkably Diverse Family of T-Box Factors in Caenorhabditis elegans

    • Abstract
    • 1 Introduction
    • 2 T-Box Genes in C. elegans and Related Nematodes
    • 3 DNA-Binding Specificity of C. elegans T-Box Factors
    • 4 Genetic Analyses of T-Box Factor Function in C. elegans
    • 5 Posttranslational Mechanisms Affecting T-Box Factor Activity
    • 6 Concluding Remarks
    • Acknowledgments

    Chapter Three: T-Box Genes and Developmental Gene Regulatory Networks in Ascidians

    • Abstract
    • 1 Introduction
    • 2 Brachyury and the Temporal Control of Notochord Specification, Development, and Differentiation
    • 3 Tbx2/3: An Essential Mediator of Brachyury Function in the Notochord
    • 4 The Lineage-Specific Duplication of Tbx6 Genes in Ascidians
    • 5 Tbx6a
    • 6 Tbx6b, Tbx6c, and the Interpretation of the Maternally Inherited Muscle Determinant
    • 7 Tbx6b and Tbx6c in Heart Development
    • 8 Tbx1/10 and the Evolutionary Origins of the Pharyngeal Muscles
    • 9 Tbx15/18/22 (VegTR) and the Establishment of Muscle Cell Identity
    • 10 Maternal T and Tail Development
    • 11 Tbx20: In or Out of the Ascidian Heart?
    • 12 Transcriptional Regulation of T-Box Genes Expression
    • 13 Concluding Remarks
    • Acknowledgments

    Chapter Four: Eomesodermin—At Dawn of Cell Fate Decisions During Early Embryogenesis

    • Abstract
    • 1 Introduction
    • 2 Early Eomes Functions in the Trophectoderm
    • 3 Eomes in the Visceral Endoderm Promotes Formation of the Embryonic AP Axis
    • 4 Eomes Functions During the Formation of Germ Layers
    • 5 Eomes Transcriptional Activities During Germ Layer Formation
    • 6 Control of Eomes Expression During Gastrulation Onset
    • Acknowledgments

    Chapter Five: Cooperation Between T-Box Factors Regulates the Continuous Segregation of Germ Layers During Vertebrate Embryogenesis

    • Abstract
    • 1 Controversy of Germ Layer Segregation: Holmdahl's Blastema vs Vogt's Predetermination Model
    • 2 Multiple Functions of T-Box Factors in Development and Disease
    • 3 Early Embryonic Roles of T-Box Factors in Segregating and Differentiating Germ Layers in Vertebrates
    • 4 Implications for Reverse Engineering ES Cells
    • 5 Summary
    • Acknowledgments

    Chapter Six: T-Box Genes in Drosophila Mesoderm Development

    • Abstract
    • 1 Introduction
    • 2 T-Box Genes in Visceral and Gonadal Mesoderm Development
    • 3 T-Box Genes in Drosophila Cardiogenesis
    • 4 The Roles of the Drosophila Orthologs of Tbx1 (org-1) and Tbx20 (mid and H15) During Embryonic Somatic Muscle Assignments
    • 5 The Role of Drosophila Tbx1 (org-1) in Lineage Plasticity, Reprogramming, and Commitment During Adult Myogenesis
    • 6 Concluding Remarks and Outlook
    • Acknowledgments

    Chapter Seven: TBX5: A Key Regulator of Heart Development

    • Abstract
    • 1 TBX5, a Member of the T-Box Family of Transcription Factors
    • 2 TBX5 Expression
    • 3 TBX5 Haploinsufficiency: Holt–Oram Syndrome
    • 4 Animal Model of Holt–Oram Syndrome
    • 5 TBX5 in Cardiac Morphologic Development
    • 6 TBX5 in Cardiac Conduction System Development
    • 7 Homozygous Tbx5 Mutations Reveal Novel Roles of TBX5
    • 8 The TBX5 Gene Regulatory Network
    • 9 Concluding Remarks

    Chapter Eight: Tbx1: Transcriptional and Developmental Functions

    • Abstract
    • 1 Tbx1: Structure and Function(s)
    • 2 Developmental Functions
    • 3 Concluding Remarks and Future Perspectives
    • Acknowledgment

    Chapter Nine: T-Box Genes in the Kidney and Urinary Tract

    • Abstract
    • 1 Introduction
    • 2 T-Box Genes, an Evolutionary Conserved Family of Developmental Regulators
    • 3 Tbx18 in Ureter and Kidney Development
    • 4 Tbx1 in Kidney Development
    • 5 Tbx20 in Bladder/Cloacal Development
    • 6 Tbx2 and Tbx3, a Closely Related Pair of T-Box Transcription Factor Genes in Kidney and Bladder Development
    • 7 Conclusion and Outlook
    • Acknowledgment

    Chapter Ten: Control of Neuronal Development by T-Box Genes in the Brain

    • Abstract
    • 1 Discovery of T-Box Gene Expression in the Developing Brain and Neural Retina
    • 2 Expression of Tbr1 Subfamily T-Box Genes in Brain and Neural Retina
    • 3 Functions of Tbr1 Subfamily T-Box Genes in Brain and Neural Retina
    • 4 Regulation of T-Box Genes
    • 5 Downstream Target Genes Regulated by T-Box Genes in Cerebral Cortex
    • 6 Human Disorders Caused by T-Box Gene Mutations in Brain
    • 7 Summary
    • Acknowledgment

    Chapter Eleven: T-Box Genes in Drosophila Limb Development

    • Abstract
    • 1 Orthology Between Drosophila and Mammalian Tbx Genes
    • 2 Embryonic Origin of the Drosophila Limb Imaginal Discs: The Role of Doc
    • 3 Pattern Formation in the Larval Leg Disc
    • 4 Tbx Genes in Drosophila Leg Development
    • 5 Pattern Formation and Proliferation Control in the Larval Wing Disc
    • 6 Tbx Genes in Drosophila Wing Development
    • 7 Tbx Gene Function in Haltere Development
    • 8 Conclusion
    • Acknowledgments

    Chapter Twelve: The Roles of T-Box Genes in Vertebrate Limb Development

    • Abstract
    • 1 Introduction
    • 2 The Tbx2/3/4/5 Subfamily Members Are Significant Players in Limb Development
    • 3 The Paralogous T-Box Genes, Tbx2 and Tbx3 Have Distinct Functions During Limb Development
    • 4 Tbx4 and Tbx5, The Markers of the Hindlimb and Forelimb
    • 5 Tbx1 Family Members Have Functions in Limb Chondrogenic Precursors
    • 6 Brachyury (T) Has a Role in AER Maturation
    • 7 Eomes (Tbr2), a Marker for Digit 4
    • 8 Future Perspectives

    Chapter Thirteen: T-Box Genes in Human Development and Disease

    • Abstract
    • 1 Introduction
    • 2 T (Brachyury)/Chordoma
    • 3 TBX1/22q11.2 Deletion Syndrome (DiGeorge Syndrome/Velocardiofacial Syndrome)
    • 4 TBX3/Ulnar–Mammary Syndrome
    • 5 TBX4/Small Patella Syndrome
    • 6 TBX5/Holt–Oram Syndrome/CHD
    • 7 TBX6/Spondylocostal Dysostosis
    • 8 TBX15/Cousin Syndrome
    • 9 TBX19/Isolated ACTH Deficiency
    • 10 TBX20/Congenital Heart Disease
    • 11 TBX22/Cleft Palate With or Without Ankyloglossia, X-Linked (CPX)
    • 12 Concluding Remarks
    • Acknowledgment

Product details

  • No. of pages: 444
  • Language: English
  • Copyright: © Academic Press 2017
  • Published: January 2, 2017
  • Imprint: Academic Press
  • Hardcover ISBN: 9780128013809
  • eBook ISBN: 9780128016138

About the Serial Volume Editor

Manfred Frasch

Manfred Frasch
Manfred Frasch is chair of the Division of Developmental Biology in the Department of Biology at Friedrich-Alexander-University of Erlangen-Nürnberg in Germany. From 1991 to 2006 he was on the faculty of Mount Sinai School of Medicine, New York, where he retains an Adjunct Professor status. Prior to that, Frasch received his Ph.D. degree from Tübingen University, Germany, then performed his postdoctoral training with Michael Levine at Columbia University in New York, and subsequently had a junior group leader position at the Max-Planck-Institute for Developmental Biology in Tübingen. Frasch is a Pew Scholar in the Biomedical Sciences and, from 2013 to 2015, served as chair of the Society of Developmental Biology, Germany (GfE). He has had a long-standing interest in the genetic and molecular mechanisms of muscle and heart development, with a main focus on Drosophila, and has authored over 90 articles and papers.

Affiliations and Expertise

Friedrich-Alexander-University of Erlangen-Nürnberg in Germany

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