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Sox2 : biology and role in development and disease / edited by Hisato Kondoh, Robin Lovell-Badge. -- Amsterdam ; Boston : Elsevier Academic Press, c2016. –(58.1481/S731) |
Contents
List of Contributors
Preface
Part 1: Basic Features of Sox2 Protein and Gene
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
References
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
References
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
Acknowledgments
References
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
Acknowledgments
References
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
References
Part 2: Gene Regulatory Networks Centered by Sox2
6. Evolution of Sox2 and Functional Redundancy in
Relation to Other SoxBl 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
SOXB7 Genes
Diversification of SOXB into SOXB1 and SOXB2
through Tandem Duplication
Evolutionary Pathway of SOXB Genes
References
7. Regulation of Sox2 via Many Enhancers of
Distinct Specificities
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
References
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
References
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 Ce%
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
References
Part 3: Sox2 Regulatory Functions in Specific Cells
and Tissues
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
Acknowledgments
References
11. SOX2-Dependent Regulation of Neural Stem Cells
and CNS Development 187
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
References
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 Muller Cells
Cooperation of SOX2 and PAX6 in Lens Development
Mechanisms Underlying Lens Transdifferentiation and
Lens Regeneration
References
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
References
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
References
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
Acknowledgments
References
16. SOX2 in the Skin
Sox2 Expression in the Epidermis
Sox2 Expression in the Hair Follicle
SOX2 Expression in Skin Cancers and Wounds
Conclusion
References
17. SOX2 in the Development and Maintenance of the
Trachea, Lung, and Esophagus
Index
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
Acknowledgments
References
