Gap Junctions in Development and Disease

Front Cover
Elke Winterhager
Springer Science & Business Media, Jul 19, 2005 - Health & Fitness - 279 pages
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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.

 

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Contents

Connexin and Pannexin Genes in the Mouse and Human Genome
1
12 Connexin Genes
5
13 Pannexin genes
9
14 Outlook
10
References
11
Essential Role of Gap Junctions During Development and Regeneration of Skeletal Muscle
13
222 Myotube Formation by Myoblast Fusion
15
223 Characteristics of Primary and Secondary Myotubes
16
73 Connexin Disorders of the Skin
142
731 Erythrokeratodermia Variabilis
146
732 Palmoplantar Keratodermas
151
733 Ectodermal Dysplasias
156
74 Summary
163
References
164
Intercellular Communication in Lens Development and Disease
173
82 Connexin Specialization in the Lens
175

225 Connexin Expression During Fusion of Myoblasts
17
226 Connexin Expression in Myotubes
19
23 Regeneration of Adult Skeletal Muscles
21
231 Satellite Cells
22
232 Connexin Expression During Muscle Regeneration
24
References
25
Connexins in Cardiac Development Expression Role and Transcriptional Control
29
32 Multiple Connexin Genes Are Expressed in the Heart
30
322 Expression Patterns of CardiomyocyteRelated Cx43 40 and 45 in the Adult Mouse Heart
32
323 Spatiotemporal Expression Patterns of CardiomyocyteRelated Cx43 40 and 45 in the Developing Mouse Heart
34
33 Role of Cxs in Heart Development
38
332 Cx40 is Involved in the Septation Process
39
333 Cx45 is Required for the Normal Progress of Cardiogenesis
40
34 Transcriptional Control of CardiomyocyteRelated Cxs
41
341 Structure and Regulation of the Cx43 Gene
42
342 Structure and Regulation of the Cx40 Gene
45
343 Structure of the Cx45 Gene
49
35 Conclusions
50
Gap Junction and Connexin Remodeling in Human Heart Disease
57
42 Gap Junctions and Connexins in Cardiomyocytes of the Normal Heart
58
43 Alterations in Gap Junctions and Connexin Expression in Heart Disease
61
44 Ventricular Myocardium in Disease
62
442 Remodeling of Connexin43 Expression
64
443 Remodeling of Expression of Connexin45 and Connexin40
68
45 ShortTerm Effects of Ischemia
69
46 Remodeling of Gap Junctions and Connexin Expression in Diseased Atrial Myocardium
70
New Tools
72
48 Concluding Comment
76
Gap Junction Expression in Brain Tissues with Focus on Development
83
During Brain Development
88
522 Postnatal Expression
90
53 Drawing a General Scheme of Gap Junction Function in the Developing Brain
92
54 Pitfalls in Defining CellSpecific Expression of Connexins in Brain Tissues
94
55 Segregation of Connexins During Glial Lineaging
95
552 The Astrocytic Lineage
98
56 Upstream Events Regulating Connexin Expression
100
References
102
Connexins Responsible for Hereditary Deafness The Tale Unfolds
111
62 Connexin Genes and Hearing Impairment
112
622 CX26 GJB2 and Autosomal Dominant Deafness DFNA3
118
623 CX30 6JB6 and Autosomal Dominant Deafness DFNA3
119
624 Other Connexin Genes and Deafness
120
63 Inner Ear and Gap Junctions
122
632 Connexin Expression in the Cochlea
124
633 Gap Junctions and Inner Ear Homeostasis
125
64 Future Prospects
128
Human Connexins in Skin Development and Skin Disorders
135
72 The Gap Junction System of Human Skin
136
722 Connexin Expression in the Mature Human Epidermis
139
723 Changes in Connexin Expression During Epidermal Differentiation
140
83 Genetic Manipulation of Lens Connexins
177
832 Knockout of Cx46
179
833 Knockout of Cx50
180
834 Knockin of Cx46 into the Cx50 Gene
181
84 How Does Cx46 Prevent Cataract?
185
85 How Does Cx50 Influence Lens Growth?
188
86 Human Connexin Mutations Cause Cataract
190
References
191
Connexin Modulators of Endocrine Function
197
by Selected Connexins
199
Express Different Connexin Patterns
201
932 Cells Producing Glycoprotein Hormones
207
934 Cells Producing Catecholamines
208
935 Cells Producing Pheromones
209
95 Nonsecretory Functions of Connexins in Endocrine Glands
210
96 Hormones and Connexins
212
97 The Future
213
References
215
Roles of Gap Junctions in Ovarian Folliculogenesis Implications for Female Infertility
223
102 Ovarian Follicle Development
224
103 Connexins in Developing Follicles
225
104 Roles of Individual Connexins in Folliculogenesis
228
105 Connexin Redundancy in Ovarian Follicles
232
106 Implications for Understanding Human Female Infertility
233
107 Conclusions
234
References
235
Placental Connexins of Mice and Men
239
1111 Temporal and Spatial Pattern of Connexins in Placentae of Mice and Men
241
1121 Connexin 26 Facilitates Transport Across the Placental Barrier
242
1122 Connexin 31 Regulates Murine Trophoblast Cell Lineage Development
243
1123 TS Cells as a Model to Investigate the Role of Connexins in Placental Development
244
113 The Role of Gap Junction Connexins in the Human Placenta
246
1132 A Novel Role for Cx43 in Intracellular Signaling
247
Cell Lineage Development
248
114 Analogous Functions of Murine and Human Connexins in Placental Development
250
References
251
Connexins in Growth Control and Cancer
253
122 Connexins and Gap Junctions
255
1232 Regulation of Endogenous Connexin Expression
256
1233 Gap Junctions and Oncogenic Transformation
257
1234 Direct Effects of Altering Connexin Gene Expression
259
1241 JunctionMediated Growth Suppression
260
1242 Nonjunctional Functions
261
1243 Connexinlnteracting Proteins
262
1244 Direct Interaction of Cx43 with CCN3 a Growth Suppressor
264
125 Conclusions
265
References
266
Subject Index
275
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