Gap Junctions in Development and Disease (eBook)

Elke Winterhager (Herausgeber)

eBook Download: PDF
2005 | 2005
XVII, 279 Seiten
Springer Berlin (Verlag)
978-3-540-28621-9 (ISBN)

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Communication between cells via intercellular channels - gap junctions - appears essential to certain developmental processes and appropriate organ function. Gap Junctions in Development and Disease aims to describe the molecular events underlying impaired development and disease. Beginning with a comprehensive review of various mouse and human genes encoding the channel-forming connexins, later chapters describe several connexin mutations associated with human diseases such as hereditary deafness and female infertility. Erroneous signaling mediated by the interaction of mutant connexins with other proteins, thought to be responsible for dysfunction of organs such as heart, muscle, brain, skin, lens, placenta, and endocrine tissue in both mice and men, is also addressed.

Although the question of why some mutations in gap-junction proteins lead to specific phenotypes remains to be answered, the reviews in this book provide an intriguing insight into the future direction of this research field.

Preface 5
Contents 7
Contributors 13
Connexin and Pannexin Genes in the Mouse and Human Genome 18
1.1 Introduction 18
1.2 Connexin Genes 22
1.3 Pannexin genes 26
1.4 Outlook 27
References 28
Essential Role of Gap Junctions During Development and Regeneration of Skeletal Muscle 30
2.1 Introduction 30
2.2 Development of Skeletal Muscles 30
2.3 Regeneration of Adult Skeletal Muscles 38
References 42
Connexins in Cardiac Development: Expression, Role, and Transcriptional Control 45
3.1 Introduction 45
3.2 Multiple Connexin Genes Are Expressed in the Heart 46
3.3 Role of Cxs in Heart Development 54
3.4 Transcriptional Control of Cardiomyocyte-Related Cxs 57
3.5 Conclusions 66
References 66
Gap Junction and Connexin Remodeling in Human Heart Disease 72
4.1 Introduction 72
4.2 Gap Junctions and Connexins in Cardiomyocytes of the Normal Heart 73
4.3 Alterations in Gap Junctions and Connexin Expression in Heart Disease 76
4.4 Ventricular Myocardium in Disease 77
4.5 Short-Term Effects of Ischemia 84
4.6 Remodeling of Gap Junctions and Connexin Expression in Diseased Atrial Myocardium 85
4.7 Significance of Connexin Co-Expression: New Tools 87
4.8 Concluding Comment 91
References 91
Gap Junction Expression in Brain Tissues with Focus on Development 98
5.1 Gap Junctions and Neurogenesis: Some Basic Aspects 98
5.2 Segregation of Connexin Expression During Brain Development 103
5.3 Drawing a General Scheme of Gap Junction Function in the Developing Brain 107
5.4 Pitfalls in Defining Cell-Specific Expression of Connexins in Brain Tissues 109
5.5 Segregation of Connexins During Glial Lineaging 110
5.6 Upstream Events Regulating Connexin Expression 115
References 117
Connexins Responsible for Hereditary Deafness – The Tale Unfolds 126
6.1 Introduction 126
6.2 Connexin Genes and Hearing Impairment 127
6.3 Inner Ear and Gap Junctions 137
6.4 Future Prospects 143
References 143
Human Connexins in Skin Development and Skin Disorders 150
7.1 Introduction 150
7.2 The Gap Junction System of Human Skin 151
7.3 Connexin Disorders of the Skin 157
7.4 Summary 178
References 179
Intercellular Communication in Lens Development and Disease 187
8.1 Introduction 187
8.2 Connexin Specialization in the Lens 189
8.3 Genetic Manipulation of Lens Connexins 191
8.4 How Does Cx46 Prevent Cataract? 199
8.5 How Does Cx50 Influence Lens Growth? 202
8.6 Human Connexin Mutations Cause Cataract 204
References 205
Connexin Modulators of Endocrine Function 210
9.1 Introduction 210
9.2 Endocrine Cells Are Connected by Selected Connexins 212
9.3 Different Endocrine Cells Express Different Connexin Patterns 214
9.4 Some Endocrine Cells Share Connexins with Their Targets 222
9.5 Nonsecretory Functions of Connexins in Endocrine Glands 223
9.6 Hormones and Connexins 225
9.7 The Future 226
References 228
Roles of Gap Junctions in Ovarian Folliculogenesis: Implications for Female Infertility 235
10.1 Introduction 235
10.2 Ovarian Follicle Development 236
10.3 Connexins in Developing Follicles 237
10.4 Roles of Individual Connexins in Folliculogenesis 240
10.5 Connexin Redundancy in Ovarian Follicles 244
10.6 Implications for Understanding Human Female Infertility 245
10.7 Conclusions 246
References 247
Placental Connexins of Mice and Men 250
11.1 Introduction 250
11.2 The Role of Gap Junction Connexins in the Murine Placenta 252
11.3 The Role of Gap Junction Connexins in the Human Placenta 257
11.4 Analogous Functions of Murine and Human Connexins in Placental Development 261
References 262
Connexins in Growth Control and Cancer 264
12.1 Introduction 264
12.2 Connexins and Gap Junctions 266
12.3 Gap Junctions and Tumor Suppression 266
12.4 Mechanisms of Connexin-Mediated Growth Suppression 270
12.5 Conclusions 276
References 277
Subject Index 285

Erscheint lt. Verlag 4.11.2005
Zusatzinfo XVII, 279 p. 47 illus., 10 illus. in color.
Verlagsort Berlin
Sprache englisch
Themenwelt Medizin / Pharmazie Medizinische Fachgebiete Dermatologie
Medizinische Fachgebiete Innere Medizin Pneumologie
Studium 2. Studienabschnitt (Klinik) Humangenetik
Naturwissenschaften Biologie Mikrobiologie / Immunologie
Technik
Schlagworte brain • Brain Development • Cancer • Carcinogenesis • Cardiac Development • Connexin • Development • Folliculogenesis • genes • Genome • Infertility • Mouse • Mutation • placenta • Protein • proteins • Regeneration • tissue • transcription
ISBN-10 3-540-28621-7 / 3540286217
ISBN-13 978-3-540-28621-9 / 9783540286219
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