Biology and Role in Development and Disease

1st Edition - August 24, 2015

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  • Editors: Hisato Kondoh, Robin Lovell-Badge
  • eBook ISBN: 9780128004203
  • Hardcover ISBN: 9780128003527

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Sox2: Biology and Role in Development and Disease offers a thorough discussion of the important role of Sox2 in cellular and developmental processes, aimed at facilitating greater understanding of how Sox2 functions across different disciplines. The book discusses the basic biology of Sox2 to help establish the critical foundational knowledge necessary for deeper molecular and functional analysis. The book also provides insight into how the Sox2 transcription factor plays a key role in pluripotency induction, maintenance, and development. Helpful as a tool to organize new research projects, the book assists with preparing lessons, seminars, and thesis or research papers, thereby circumventing the need to spend hours searching through journal databases. A single source for the basic biology of Sox2, Sox2: Biology and Its Role in Development and Disease provides information on networks, gene regulation, and regulatory function in a number of cell types and tissues types.

Key Features

  • Discusses the important role of Sox2 in cellular and developmental processes
  • Facilitates a greater understanding of how Sox2 functions across different disciplines
  • Assists in identifying, circumventing and modifying the dynamics of Sox2 in cell types
  • Provides greater understanding of the structure of Sox2 and its gene networks
  • Identifies aspects of phenotypic spectrum uncovered following greater understanding of Sox2 during development


Basic and clinical researchers in cell biology, developmental biology, genetics, neuroscience, pharmaceuticals and across the biological and biomedical sciences.

Table of Contents

    • List of Contributors
    • Preface
    • Part 1. Basic Features of Sox2 Protein and Gene
      • Chapter 1. Historical Perspectives
        • Discovery of SOX2 and other Sox Genes Pioneered by Sry
        • SOX2 with Defined Regulatory Targets, in Cooperation with Partner Factors
        • Molecular Structure of SOX2 HMG and Associated Domains Interacting with DNA and Partner Factors
        • SOX2 Functions in the Early Developmental Process, Involving Functional Redundancy with SoxB1 Genes and Maternal Factors
        • Roles for SOX2 in Neural and Associated Tissues
        • SOX2 in the Development of Nonneural Tissues
        • SOX2 in the Stem Cells and a Potential New Role for SOX2 in Chromatin Regulation
        • Regulation of SOX2 Activity at Different Levels
        • SOX2 and Disease
      • Chapter 2. Three-dimensional Structure of SOX Protein–DNA Complexes
        • Introduction
        • SOX HMG Domain Structure
        • Mechanism of Motif Recognition Facilitated by Structures
        • Structure-Assisted Re-Engineering of SOX Members
        • Conclusion
      • Chapter 3. Dynamics of SOX2 Interactions with DNA
        • Introduction
        • Experimental Approaches
        • Interactions of SOX2 with Nonspecific DNA
        • Kinetics of Intermolecular Translocation of SOX2 between Specific DNA Duplexes
        • Interplay between SOX2 and OCT1 in Translocation Involving Sparsely Populated States Probed by PRE
        • Concluding Remarks
      • Chapter 4. Posttranscriptional Modulation of Sox2 Activity by miRNAs
        • Introduction
        • Biogenesis and Function of microRNAs and Large Intergenic Noncoding RNAs in Animals
        • Modulatory Roles of microRNAs in the Posttranscriptional Control of Gene Expression
        • ncrna-Mediated Modulation Of Sox2 Expression In Pscs
        • miRNA-Mediated Modulation of SOX2 Expression in Neural Stem/Progenitor Cells
        • miRNA-Mediated Modulation of SOX2 Expression in CSCs
        • Keeping SOX2 Activity in Check: Some Concluding Remarks on Posttranscriptional Modulation of SOX2 Expression
      • Chapter 5. The Role of SOX2-Interacting Proteins in Gene Regulation by SOX2
        • Introduction
        • Unbiased Identification of Sox2 Interaction Partners
        • SOX2 in ESCs
        • SOX2 in TSCs
        • SOX2 in NSCs
        • Eye
        • Concluding Remarks
    • Part 2. Gene Regulatory Networks Centered by Sox2
      • Chapter 6. Evolution of Sox2 and Functional Redundancy in Relation to Other SoxB1 Genes
        • Introduction
        • The SOX Family and HMG Domain Superfamily
        • Evolution of the Sox Family Genes
        • Expansion of the Sox Genes and Emergence of Sox2 in the Vertebrate Lineage
        • Functional Redundancy and Diversification among the SoxB1 Genes
        • Diversification of SoxB into SoxB1 and SoxB2 through Tandem Duplication
        • Evolutionary Pathway of SoxB Genes
      • Chapter 7. Regulation of Sox2 via Many Enhancers of Distinct Specificities
        • Introduction
        • Characterization of Neural Enhancers Distributed in the 50-kb Sox2-Proximal Region of the Chicken Genome
        • Characterization of Individual Enhancers that Exhibit Activities in the Neural Primordia
        • Additional Enhancers Outside the Central 50-kb Region
        • Hierarchy in the Action of Sensory Placode-Specific Enhancers
        • Correlations between the Enhancers and the Conserved Sequence Blocks
        • Comparison with Sox3 Enhancers
        • Relationships among Sox2-Associated Enhancers, Conserved Sequence Blocks, and Sox2ot Exons
        • Conclusions
      • Chapter 8. SOX2–Partner Factor Interactions and Enhancer Regulation
        • Introduction
        • SOX2–POU5F1 Interaction
        • Cases for Overlap of High-Density Clusters of SOX2 Binding and POU Binding Sequences
        • SOX2–PAX6 Interaction
        • SOX2-Interacting Chromatin Modification Factors and Covalent Modification of the Sox2 Protein
        • Other Cases of Gene Regulation That Depend on SOX2–Partner Factor Interaction
      • Chapter 9. Genomic Occupancy in Various Cellular Contexts and Potential Pioneer Factor Function of SOX2
        • Introduction
        • SOX2 Function and Binding Pattern in Pluripotent Stem Cells
        • Prebinding of Lineage-Specific Genes in Pluripotent Stem Cells
        • SOX2 Function in Tissue-Specific Stem Cells
        • SOX2 Binding Pattern in Stem and Progenitor Cells of the Developing CNS
        • Specification of SOX2 Binding
        • Functions of Genes Bound by SOXB1 Proteins in NPCs
        • Prebinding of Neuronal Genes by SOXB1 Proteins in NPC
        • Pioneering Activity of SOX2 During Cellular Reprogramming
        • Concluding Remarks
    • Part 3. Sox2 Regulatory Functions in Specific Cells and Tissues
      • Chapter 10. SOX2-Dependent Regulation of Pluripotent Stem Cells
        • Introduction
        • SOX2–Protein Partner Interactions
        • Regulation of SOX2
        • Consequences of Altering SOX2 Levels
        • SOX2 in Reprogramming
        • SOX2 in Epiblast Stem Cells
        • Perspectives
      • Chapter 11. Sox2-Dependent Regulation of Neural Stem Cells and CNS Development
        • Introduction
        • Sox2 Expression Marks the Developing CNS
        • Transcriptional Regulation of Sox2 Expression in Neural Cells
        • Sox2 Functions and Molecular Targets in CNS Development
        • Sox2 Functions in NSC In Vitro
        • Sox2 Targets in NSC
        • Open Questions and Perspectives
      • Chapter 12. Multiple Roles for SOX2 in Eye Development
        • Introduction
        • Steps Involved in Embryonic Eye Development
        • Expression of Sox2 in Eye Tissues and Its Regulation
        • Enhancers That Regulate Sox2 Expression during Eye Development
        • Taxon-Dependent Expression of SOXB1 Factors and Unique Contribution of SOX2 in Mammalian Eye Development
        • Roles for SOX2 at distinct Stages of Retinal Development
        • Roles for SOX2 in Regulating RPC Maintenance Involving Notch1 Activation and in the Cell Identity of Ganglion Cells, a Subset of Amacrine Cells, and Müller Cells
        • Cooperation of SOX2 and Pax6 in Lens Development
        • Mechanisms Underlying Lens Transdifferentiation and Lens Regeneration
      • Chapter 13. Congenital Abnormalities and SOX2 Mutations
        • Identification of SOX2 as a Key Gene Mutated in Bilateral Anophthalmia and Severe Microphthalmia Cases
        • Deciphering the Role of SOX2 in Development and Disease
        • The Spectrum of SOX2 Mutations in Ocular Malformation and Related Anomalies
        • Limited Genotype–Phenotype Correlations
      • Chapter 14. Role of SOX2 in the Hypothalamo–Pituitary Axis
        • Introduction
        • Expression of SOX2 in the Hypothalamo–Pituitary Axis
        • Role of SOX2 in Hypothalamo–Pituitary Axis Morphogenesis
        • SOX2 in the Postnatal Axis
        • SOX2 and Human Disorders Affecting the Hypothalamo–Pituitary Axis
        • Conclusion
      • Chapter 15. SOX2 in Neurosensory Fate Determination and Differentiation in the Inner Ear
        • Inner Ear Development
        • SOX2 Expression in the Developing Inner Ear
        • Sox2 is Essential for Prosensory Specification in Early Otic Development
        • Widely Separated Deoxyribonucleic Acid Enhancers Direct Otic Sox2 Expression
        • Sox2 and Inner Ear Neurogenesis
        • Sox2 and Sensory Cell Fate Specification and Differentiation in the Cochlear Epithelium
        • The Sox2 Gene Regulatory Network: Cooperation with Signaling Pathways and Partners
        • SOX2 in Hair Cell Fate Induction in Concert with Partners
        • Perspective and Regenerative Medicine for the Inner Ear
      • Chapter 16. SOX2 in the Skin
        • Sox2 Expression in the Epidermis
        • Sox2 Expression in the Hair Follicle
        • Sox2 Expression in Skin Cancers and Wounds
        • Conclusion
      • Chapter 17. SOX2 in the Development and Maintenance of the Trachea, Lung, and Esophagus
        • Introduction
        • SOX2 in Separation of the Trachea and Esophagus
        • SOX2 in Lung Development and Maintenance
        • SOX2 in Morphogenesis and Maintenance of Esophagus
        • Conclusion Remarks and Future Direction
    • Index

Product details

  • No. of pages: 344
  • Language: English
  • Copyright: © Academic Press 2015
  • Published: August 24, 2015
  • Imprint: Academic Press
  • eBook ISBN: 9780128004203
  • Hardcover ISBN: 9780128003527

About the Editors

Hisato Kondoh

Hisato Kondoh
Hisato Kondoh, Ph.D. is a Professor of the Faculty of Biosciences at Kyoto Sangyo University, Japan. He received his B.Sc. and Ph.D. in Biophysics from the Kyoto University Faculty of Sciences. After conducting his postdoctoral study at the Department of Biochemistry, University of Wisconsin-Madison, USA, he was appointed as Assistant Professor in 1978 and then as Associate professor at the Faculty of Science, Kyoto University. In 1988, Dr. Kondoh moved to the Nagoya University School of Sciences as a full Professor of the Department of Molecular Biology. In 1993, he joined the Institute for Molecular and Cellular Biology, Osaka University, and served as Director of the Institute from 1998 to 2002. He then joined the Graduate School of Frontier Biosciences at Osaka University and served as the Dean of the School from 2006 to 2008. Since 2014, he assumes the present position.

Affiliations and Expertise

Faculty of Life Sciences, Kyoto Sangyo University, Kyoto, Japan

Robin Lovell-Badge

Robin Lovell-Badge is a developmental biologist, geneticist and stem cell biologist at NIMR in London. He obtained his PhD in Embryology at University College London in 1978, carrying out mouse stem cell and embryo research with Martin Evans. After postdoctoral research in Cambridge, also with Martin Evans, and then in Paris, he established his independent laboratory in 1982 at the MRC Mammalian Development Unit, University College, London, directed by Anne McLaren. In 1988 he moved to the MRC National Institute for Medical Research (which was incorporated into the Francis Crick Institute in April 2015), becoming Head of Division in 1993. His lab discovered the first members of the Sox gene family, along with Sry, the Y-linked sex determining gene, in 1990. He has had long-standing interests in the biology of stem cells, in how genes work in the context of embryo development, and how decisions of cell fate are made. Major themes of his current work include sex determination, development of the nervous system and pituitary, and the biology of stem cells within the early embryo, the CNS and the pituitary. He is also very active in both public engagement and policy work, notably around stem cells, genetics, human embryo and animal research, and in ways science is regulated and disseminated.

He was elected a member of EMBO in 1993, a Fellow of the Academy of Medical Sciences in 1999, and a fellow of the Royal Society in 2001. He has received the Louis Jeantet Prize for Medicine (1995), the Amory Prize (Awarded by the American Academy of Arts and Sciences) (1996), the Feldberg Foundation Prize (2008), and the Waddington Medal of the British Society for Developmental Biology (2010). He is also an honorary professor at University College, London and a Distinguished Visiting Professor at the University of Hong Kong.

Affiliations and Expertise

Group Leader, Laboratory of Stem Cell Biology and Developmental Genetics, The Francis Crick Institute, The Ridgeway, Mill Hill, London NW7 1AA, UK

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