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Principles of Developmental Genetics
2nd Edition - September 2, 2014
Editor: Sally A. Moody
Language: English
Hardback ISBN:9780124059450
9 7 8 - 0 - 1 2 - 4 0 5 9 4 5 - 0
eBook ISBN:9780124059238
9 7 8 - 0 - 1 2 - 4 0 5 9 2 3 - 8
Providing expert coverage of all major events in early embryogenesis and the organogenesis of specific systems, and supplemented with representative clinical syndromes,…Read more
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Providing expert coverage of all major events in early embryogenesis and the organogenesis of specific systems, and supplemented with representative clinical syndromes, Principles of Developmental Genetics, Second Edition discusses the processes of normal development in embryonic and prenatal animals, including humans. The new edition of this classic work supports clinical researchers developing future therapies with its all-new coverage of systems biology, stem cell biology, new technologies, and clinical disorders. A crystal-clear layout, exceptional full-color design, and bulleted summaries of major takeaways and clinical pathways assist comprehension and readability of the highly complex content.
All-new coverage of systems biology and stem cell biology in context of evolving technologies places the work squarely on the modern sciences
Chapters are complemented with a bulleted summary for easy digestion of the major points, with a clinical summary for therapeutic application
Clinical highlights provides a bridge between basic developmental biology and clinical sciences in embryonic and prenatal syndromes
Basic cell and developmental biologists, developmental geneticists, stem cell biologists, clinical scientists and evo-devo biologists.
Preface
Section I. Emerging Technologies and Systems Biology
Chapter 1. Generating Diversity and Specificity through Developmental Cell Signaling
Summary
1.1. Introduction
1.2. Identification of Signaling Pathway Components
1.3. Functional Diversification of Related Signaling Proteins
1.4. Roles of Cytoplasmic Extensions in Cell Signaling
1.5. Formation and Interpretation of Signaling Gradients
1.6. Transcriptional Regulation by Developmental Cell Signaling Pathways
1.7. Transcription-Independent Responses to Cell Signaling
1.8. Roles of Computational Biology in Developmental Cell Signaling Studies
1.9. Closing Remarks
1.10. Clinical Relevance: Developmental Cell Signaling and Human Disease
Chapter 2. Applications of Deep Sequencing to Developmental Systems
Summary
2.1. Introduction
2.2. Using RNA-seq to Map and Quantify Transcripts
2.3. Chromatin Immunoprecipitation for Identifying Protein-DNA Interactions
2.4. DNAse I Hypersensitive Site Mapping to Identify Cis-Regulatory Regions
2.5. Interactions at a Distance
2.6. Prospects
2.7. Clinical Relevance
Chapter 3. Using Mutagenesis in Mice for Developmental Gene Discovery
Summary
3.1. Use of ENU as a Mutagen
3.2. ENU-Induced Mutations in Mice
3.3. ENU-Induced Mutations Affecting Development
3.4. Identification of Modifier loci
3.5. Clinical Relevance
Chapter 4. Chemical Approaches to Controlling Cell Fate
Summary
4.1. Introduction
4.2. Chemical Approaches to Controlling Cell Fate
4.3. Clinical Relevance
Chapter 5. BMP Signaling and Stem Cell Self-Renewal in the Drosophila Ovary
Summary
5.1. Introduction
5.2. The Drosophila Ovary
5.3. The BMP Signaling Pathway
5.4. Regulation of BMP Signaling by Extrinsic Factors
5.5. Regulation of BMP Signaling by Intrinsic Factors
5.6. Additional Regulators
5.7. Selected Topics
5.8. BMP Signaling and Stem Cell Homeostasis in Vertebrates
5.9. Conclusions
5.10. Clinical Relevance
Chapter 6. Genomic Analyses of Neural Stem Cells
Summary
6.1. Introduction
6.2. The Importance of Global Analysis and Caveats when Comparing Cell Samples
6.3. The Use of a Reference Standard
6.4. Epigenetic Modulation
6.5. MicroRNA
6.6. Mitochondrial Sequencing
6.7. Transcriptome Mapping
6.8. Data Mining: Chromosome Mapping, Pathway Analysis, Data Representation
6.9. General Observations about the Properties of Neural Stem Cells
6.10. Species Differences
6.11. Lack of a “Stemness” Phenotype
6.12. Allelic Variability
6.13. Age Dependent Changes in NSCs
6.14. Cancer Stem Cells
6.15. Conclusions
6.16. Clinical Relevance
Chapter 7. Genomic and Evolutionary Insights into Chordate Origins
Summary
7.1. Introduction
7.2. Hox Gene Cluster Organization and Expression in Deuterostomes: Anterior-Posterior Axis Development
7.3. Pharyngeal Gills and Gill Bar Development
7.4. The Post-Anal Tail and the Endostyle of Hemichordates: Gene Expression Studies
7.5. The Central Nervous System and the Dorsal-Ventral Inversion Hypothesis
7.6. Evidence for the Hemichordate Stomochord Homology to Chordate Notochord
7.7. The Evolution of Placodes and the Neural Crest in Chordates
7.8. Stem Cells and Regeneration in Hemichordates
7.9. Summary and Conclusions
7.10. Clinical Relevance
Section II. Early Embryology and Morphogenesis
Chapter 8. Signaling Cascades, Gradients, and Gene Networks in Dorsal/Ventral Patterning
Summary
8.1. Introduction
8.2. AP and DV Polarity is Specified in the Developing Ovariole
8.3. From the Oocyte to the Fertilized Egg: Formation of the DL Nuclear Concentration Gradient
8.4. Dpp/Sog Activity Gradients are Responsible for Further Patterning of the DV Axis
8.5. The DV Regulatory Network
8.6. Comparison of DV Patterning in Drosophila and Vertebrates
8.7. Clinical Relevance
Chapter 9. Building Dimorphic Forms: The Intersection of Sex Determination and Embryonic Patterning
Summary
9.1. Introduction
9.2. Sex determination in Drosophila melanogaster
9.3. Sex Determination in Mammals
9.4. Dimorphism in the Fly Olfactory System
9.5. Integration of Sex Determination and Embryonic Pattern Formation
9.6. Clinical implications of Sexual Determination and Dimorphism
9.7. Conclusions
9.8. Clinical Relevance
Chapter 10. Formation of the Anterior-Posterior Axis in Mammals
Summary
10.1. Introduction
10.2. Discovery and Importance of the AVE
10.3. The DVE is a Heterogeneous and Dynamic Cell Population, which forms after the Proximo-Distal Regionalization of the VE
10.4. Mechanisms of DVE Cell Movement
10.5. Evolutionary Perspective
10.6. Conclusions
10.7. Clinical Relevance
Chapter 11. Early Development of Epidermis and Neural Tissue
Summary
11.1. Introduction
11.2. Specification of Ectoderm and Mesendoderm by Mutually Antagonistic Factors
11.3. Specification of Epidermis and Neural Tissue
11.4. Ectodermal Cell Type Specification and Cell Polarity
11.5. Clinical Relevance
Chapter 12. Taking the Middle Road: Vertebrate Mesoderm Formation and the Blastula-Gastrula Transition
Summary
12.1. The Discovery of Mesoderm and Germ Layers
12.2. Germ Layer Phylogeny
12.3. Mesoderm’s Fossil Record
12.4. Embryonic Organizers and Induction
12.5. Cell Lineage Tracing
12.6. The Blastula-Gastrula Transition in Vertebrates
12.7. The Cryptic Homology of Vertebrate Fate Maps
12.8. Exceptions to Presumed Cell Lineage Restrictions
12.9. Beyond the Blastula-Gastrula Transition: Caudal Mesoderm and the Left-Right Axis
12.10. Molecular-Genetic Dissection of Mesoderm Formation
12.11. A Gene Regulatory Network View of Development
12.12. GRNs of Vertebrate Mesoderm Formation
12.13. Maternal Activation of Nodal Signaling: X. laevis and Zebrafish
12.14. Zygotic Regulation of Nodal Signaling: Chick and Mouse
12.15. Establishing T Expression
12.16. Establishing Homogenous Cellular Fields
12.17. The SMO Proximodistal Axis
12.18. Separating Mesendoderm from Ectoderm
12.19. Separating Mesoderm from Endoderm
12.20. Early Zygotic Genes are Poised for Action
12.21. The Phylotypic Egg Timer
12.22. Mesoderm Specification Defects in Humans
12.23. Human Gene Variants Associated with Mesoderm Specification Defects
12.24. Implications of a Pan-N-M Caudal Axis
12.25. Concluding Remarks
12.26. Clinical Relevance
Chapter 13. Vertebrate Endoderm Formation
Summary
13.1. Introduction
13.2. Overview of Endoderm Morphogenesis in Vertebrates
13.3. Molecular Mechanisms of Endoderm Development
13.4. Endoderm GRN Transcription Factors
13.5. Modulation of the Endoderm GRN by other Signaling Pathways
13.6. Human Endoderm Differentiation in Pluripotent Stem Cells
13.5. Clinical Relevance
Chapter 14. Epithelial Branching: Mechanisms of Patterning and Self-Organization
Summary
14.1. Introduction: The Importance of Epithelial Branching to Organogenesis
14.2. Types and Scales of Branching Morphogenesis
14.3. The Role of Genetics in Studying Mechanisms of Branching Morphogenesis
14.4. The Problems: What most Needs to be Explained
14.5. Symmetry-Breaking: Why do Epithelia Branch Rather than Just Balloon?
14.6. Tips and Stalks
14.7. Patterning: How to make a Tree not a Tangle
14.8. Imposing Subtlety: Making Organ-Specific Patterns
14.9. Clinical Relevance
Chapter 15. Lessons from the Zebrafish Lateral Line System
Summary
15.1. Introduction
15.2. Emergence of the PLL System
15.3. Morphogenesis and Sequential Formation of Protoneuromasts in the PLLP
15.4. Establishment of Polarized Wnt and FGF Signaling Systems in the PLLP
15.5. Specification of a Central Hair Cell Progenitor by Lateral Inhibition Mediated by Notch Signaling
15.6. The Hair Cell Progenitor Becomes a New Localized Source of FGF
15.7. Notch Signaling – an Essential Node in the Self-Organization of the PLLP
15.8. Periodic Formation of Protoneuromasts
15.9. Termination of the PLLP System
15.10. Polarized Migration of the PLLP Along a Path Defined by Chemokine Signals
15.11. Regulation of Neuromast Spacing
15.12. Conclusions
15.13. Clinical Relevance
Section III. Organogenesis
Chapter 16. Neural Cell Fate Determination
Summary
16.1. Introduction
16.2. Fundamentals of Neurogenesis
16.3. The Generation of Specific Cell Types within the Vertebrate Nervous System: Spinal Cord Development
16.4. Common Themes in CNS Development
16.5. Postmitotic Refinement of Subtype Identity
16.6. Applying Developmental Principles to Stem Cell Research: Directed Differentiation from Pluripotent Stem Cells
16.7. Using Transcription Factor Codes to Directly Specify Cell Fate
16.8. Modeling Human Neurological Disorders and Diseases
Clinical Relevance
Chapter 17. Retinal Development
Vignette: Drosophila Genetics: What the Fly told the Vertebrate Eye
Chapter 18. Neural Crest Determination and Migration
Summary
18.1. Introduction
18.2. Techniques to Identify Neural Crest Development
18.3. Specification of Neural Crest Cells
18.4. Neural Crest Cell Migration
18.5. Human Pathologies
18.6. Clinical Relevance
Chapter 19. Development of the Pre-Placodal Ectoderm and Cranial Sensory Placodes
Summary
19.1. Introduction
19.2. Cranial Sensory Placodes give Rise to Diverse Structures
19.3. Specification of the Pre-Placodal Ectoderm
19.4. Genes that Specify Pre-Placodal Ectoderm Fate
19.5. Maintaining the Boundaries of the Pre-Placodal Ectoderm
19.6. Placode Identity
19.7. Regulation of Placode-Derived Sensory Neuron Differentiation
19.8. Future Directions
19.9. Clinical Relevance
Chapter 20. Building the Olfactory System
Summary
20.1. Introduction
20.2. The Initial Development of the Olfactory Pathway
20.4. OB Induction: Parallel M/E Regulation of Initial Morphogenesis
20.5. Stem Cells, Cell Lineages and Neuronal Specification in the OE
20.6. Cell Lineages, Migration and Neuronal Specification in the Developing and Adult OB
20.7. Olfactory Pathway Development Beyond Morphogenesis, Stem Cells and Neuronal Specification
20.8. Perspective
20.9. Clinical Relevance
Chapter 21. Development of the Inner Ear
Summary
21.1. Introduction
21.2. Anatomy of the Inner Ear
21.3. Specification of Neural and Sensory Fates: A Common Origin for Neuronal and Prosensory Cells
21.4. Development of the Semicircular Canals and Cristae
21.5. Development of the Cochlear Duct and Organ of Corti
Conclusions
Clinical Relevance
Chapter 22. Molecular Genetics of Tooth Development
Summary
22.1. Introduction
22.2. Developmental Anatomy
22.3. Gene Expression Pattern Databases
22.4. The Disruption of Signaling Pathways Arrests Mouse Tooth Development
22.5. The Genetic Basis of Human Tooth Agenesis
22.6. Dental Placodes and the Pathogenesis of Ectodermal Dysplasia Syndromes
22.7. Enamel Knots, Tooth Shapes, and the Fine-Tuning of Signal Pathways
22.8. The Genetic Basis of Tooth Replacement
22.9. The Developmental Genetics of Dentin and Enamel Formation
22.10. Clinical Relevance
Chapter 23. Early Heart Development
Summary
23.1. Introduction
23.2. Embryology of Heart Development
23.3. Multiple Signaling Pathways are Involved in Early Cardiogenesis
23.4. Transcriptional Regulation of Early Heart Development
23.5. Programming and Reprogramming of Cells Towards a Cardiac Fate
23.6. Conclusions
23.7. Clinical Significance
Chapter 24. Blood Vessel Formation
Summary
24.1. Introduction
24.2. Emergence of the Blood Vascular System
24.3. Arterial-Venous Differentiation
24.4. Emergence of the Lymphatic System
24.5. Patterning of the Developing Vasculature
24.6. Concluding Remarks
24.7. Clinical Relevance
Chapter 25. Blood Induction and Embryonic Formation
Summary
25.1. Introduction
25.2. Origin of Blood Cells during Embryogenesis
25.3. Transcriptional Regulation of Blood Development
25.4. Therapeutic Use of HSCs
25.5. Clinical Relevance
Chapter 26. How to Build a Kidney
Summary
26.1. Introduction
26.2. The Nephric Duct
26.3. Nephron Segmentation
26.4. Kidney Stem Cells?
26.5. Summary and Future Directions
Clinical Relevance
Chapter 27. Development of the Genital System
Summary
27.1. Introduction
27.2. Genetic Sex Determination
27.3. Gonadal Differentiation
27.4. Development of the Genital Ducts
27.5. Development of the External Genitalia
27.6. Malformations of the Genital System
27.7. Conclusion
Chapter 28. Skeletal Development
Summary
28.1. Introduction
28.2. The Appendicular Skeleton
28.3. Axial Skeleton
28.4. Conclusion
28.5. Clinical Relevance
Chapter 29. Formation of Vertebrate Limbs
Summary
29.1. Introduction
29.2. Limb Initiation
29.3. Limb Bud Outgrowth and Patterning
29.4. Limb Development and Diseases
29.5. Conclusions and Perspectives
29.6. Clinical Relevance
Chapter 30. Patterning the Embryonic Endoderm into Presumptive Organ Domains
Summary
30.1. Introduction
30.2. Fate Map of the Embryonic Endoderm
30.3. Gene Expression Domains Predict and Determine Endoderm Organ Primordia
30.4. Translational Embryology: The Impact of Embryonic Studies on Human Health
Clinical Relevance
Chapter 31. Pancreas Development and Regeneration
Summary
31.1. Introduction
31.2. The Initial Stages of Pancreatic Bud Formation
31.3. Inductive Interactions During Pancreas Development
31.4. Genes that Affect Pancreatic Bud Development
31.5. Genes that Affect the Differentiation of Particular Pancreatic Cell Types
31.6. Generating Islets/β-Cells from Stem or Progenitor Cells
31.7. Clinical Relevance
Section IV. Selected Clinical Problems
Chapter 32. Diaphragmatic Embryogenesis and Human Congenital Diaphragmatic Defects
Summary
32.1. Introduction
32.2. Diaphragmatic Anatomy
32.3. Diaphragmatic Development
32.4. Genetics of Human Congenital Diaphragmatic Defects
32.5. Cardiopulmonary Development and the Diaphragm
Conclusions
Clinical Relevance
Chapter 33. Genetic and Developmental Basis of Congenital Cardiovascular Malformations
Summary
33.1. Understanding Congenital Heart Defects in the Context of Normal Cardiac Development
33.2. Heart Tube and Cardiac Looping
33.3. Formation of the Atrioventricular Canal
33.4. Targeted Growth of the Pulmonary Veins
33.5. Atrial and Ventricular Septation
33.6. Valvulogenesis and Outflow Tract Development
33.7. Intracardiac Conduction System
33.8. Clinical Relevance
Chapter 34. T-Box Genes and Developmental Anomalies
Summary
34.1. T-Box Genes: Transcription Factor Genes with Many Developmental Roles
34.2. DNA Binding and Transcriptional Regulation by T-Box Proteins
34.3. Human Syndromes and Mouse Models
34.4. Future Directions
Clinical Relevance
Chapter 35. Craniofacial Syndromes: Etiology, Impact and Treatment
Summary
35.1. Introduction
35.2. First Arch Derived Structures
35.3. Midface
35.4. Cranial Vault
35.5. Conclusions
35.6. Clinical Relevance
Chapter 36. 22q11 Deletion Syndrome: Copy Number Variations and Development
Summary
36.1. 22q11DS is a Genomic Disorder with Widespread Consequences for Development
36.2. 22q11DS as Viewed from a Developmental Perspective
36.3. Genes and Phenotypes: 22q11DS as a Prototype Genomic Disease
36.4. Clinical Relevance
Chapter 37. Neural Tube Defects
Summary
37.1. Introduction
37.2. Discussion
37.3. Future Directions
37.4. Clinical Relevance
Glossary
Index
No. of pages: 784
Language: English
Edition: 2
Published: September 2, 2014
Imprint: Academic Press
Hardback ISBN: 9780124059450
eBook ISBN: 9780124059238
SM
Sally A. Moody
Sally A. Moody is Professor of Anatomy and Cell Biology at the George Washington University Medical Center, and a member of both the Neuroscience and Genetics programs. Prior to this appointment she was on the faculty of the Anatomy and Cell Biology Department, the Department of Neuroscience, and the Developmental Biology program at the University of Virginia. She trained in developmental neurobiology at the University of Florida’s Department of Neuroscience and the University of Utah’s Department of Neurobiology and Anatomy. Dr. Moody’s current research focuses on the cascade of interactions that instruct lineages to give rise to the frog nervous system. She has taught developmental neurobiology in the MBL "Neurobiology" course and was co-director of the "Early Development of Xenopus Laevis" course at the Cold Spring Harbor Laboratory. She has also served on many National Institute of Health advisory committees dealing with issues in developmental biology and developmental neurobiology, and served on the Board of Trustees of the Society for Developmental Biology.
Affiliations and expertise
George Washington University, Washington, DC, USA
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