Vitamin D: Volume 1: Biochemistry, Physiology and Diagnostics

1182 Pages·2017·33.613 MB·English

by  David Feldman et al. (eds.)

VITAMIN D
VOLUME 1: BIOCHEMISTRY,
PHYSIOLOGY AND DIAGNOSTICS
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VITAMIN D
VOLUME 1: BIOCHEMISTRY,
PHYSIOLOGY AND DIAGNOSTICS
FOURTH EDITION
Editor-in-Chief
D F
aviD elDman
Senior Associate Editor
J. W P
esley ike
Associate Editors
R B
ogeR ouillon
e g
DWaRD iovannucci
D g
aviD oltzman
m H
aRtin eWison
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Contents
List of Contributors xxiii The Evolution of Skin Pigmentation in Homo sapiens 36
In Memoriam xxix The Effects of Cultural Buffering, Rapid Migrations, and Modern
Lifestyles on Skin Color and Vitamin D 38
Preface to the Fourth Edition xxxi
References 40
Abbreviations xxxiii
Further Reading 44
Relevant Lab Values in Adults and Children xxxvii

4. Photobiology of Vitamin D
VOLUME I MICHAEL F. HOLICK
Introduction 45
Historical Perspective 45
I
Photobiology of Vitamin D 46
Role of Sunlight and Dietary Vitamin D in Bone Health,
HISTORY, CHEMISTRY METABOLISM, Overall Health, and Well-being 50
Sunlight, Vitamin D, and Skin Cancer 51
CIRCULATION & REGULATION
Conclusions 52
References 53
1. Historical Overview of Vitamin D Further Reading 55
HECTOR F. DELUCA
5. The Activating Enzymes of Vitamin D Metabolism
Discovery of the Vitamins 3
Discovery of the Physiological Functions of Vitamin D 5 (25- and 1α-Hydroxylases)
Discovery of the Hormonal Form of Vitamin D 6 GLENVILLE JONES, DAVID E. PROSSER AND MARTIN KAUFMANN
Acknowledgment 9
Introduction 57
References 9
General Information Regarding Vitamin D Hydroxylases 59
2. E volutionary Biology: Mysteries of Vitamin D in Fish Vitamin D3-25-Hydroxylases 59
25-Hydroxyvitamin D-1α-hydroxylase 66
DAVID R. FRASER
Additional Topics 70
References 74
Biological Distribution of Vitamin D 14
Evolutionary Origins of Vitamin D 14
Evolution of Vitamin D Function 16 6. CYP24A1: Structure, Function, and
Origin of Vitamin D in Fish 16 Physiological Role
Functional Metabolism of Vitamin D in Fish 19
RENÉ ST-ARNAUD AND GLENVILLE JONES
A Possible Role for Sunlight in the Origin of Vitamin D in Fish 19
Vitamin D Function in Fish 21 Introduction 81
Transport of Vitamin D and Its Metabolites 23 CYP24A1-Catalyzed Pathways 82
Vitamin D Toxicity From Oral Ingestion 23 C24-Oxidation Pathway 82
References 24 C23-Hydroxylation Pathway 83
CYP24A1, a Multifunctional Enzyme 83
3. Evolution of Human Skin Color and Vitamin D Biological Relevance of the C24-Oxidation Pathway 84
NINA G. JABLONSKI Structure–Function Relationships 84
Mutations of CYP24A1 and Idiopathic Infantile
Introduction 30 Hypercalcemia 85
The Solar Context of Human Skin Color Evolution 30 Preclinical Models of Idiopathic Infantile Hypercalcemia 87
The Nature of the Selective Factors Leading to the Evolution Putative CYP24A1 Involvement in Other Systems 87
of Skin Pigmentation in Early Homo 31 CYP24A1 in Chronic Kidney Disease 87
Folate Conservation and the Evolution of Permanent Protective Role of 24,25(OH) D in Chondrocyte Maturation 88
2
Pigmentation 32 24,25(OH) D and Fracture Repair 88
2
Early Hominin Dispersal Out of the Tropics and Vitamin D Perspectives 90
Production 32 References 91
v
CONTENTS
7. The Vitamin D-Binding Protein Regulation of Wnt Signaling by the Vitamin D Receptor: A
Molecular Basis for Cancer Prevention 177
ROGER BOUILLON AND STEVEN PAUWELS
Control of FoxO Protein Function by the Vitamin D Receptor 179
Summary 97 Regulation of the c-MYC/MXD1 Network by the
Introduction 98 Hormone-Bound Vitamin D Receptor 180
Vitamin D-Binding Protein: Gene and Protein Structure 99 Multiple Mechanisms of Regulation of NF-κB Signaling by the
Functions of Vitamin D-Binding Protein 102 Hormone-Bound Vitamin D Receptor 182
The Vitamin D-Binding Protein–Actin Complex 107 Insights Into Transcriptional Regulation by the Vitamin D
Conclusions and Perspectives 109 Receptor from Genomics Studies 183
References 110 Conclusions 183
References 183
8. Regulation of Renal and Extrarenal 1α-Hydroxylase
11. S tructural Basis for Ligand Activity in
DEAN P. LARNER, JOHN S. ADAMS AND MARTIN HEWISON
Vitamin D Receptor
Introduction 117 ANNA Y. BELORUSOVA AND NATACHA ROCHEL
Renal 1α-Hydroxylase 118
Extrarenal Expression of 1α-Hydroxylase 121 Introduction 189
Conclusions and Future Prospects 129 1α,25-Dihydroxyvitamin D3 Recognition by Vitamin D
References 130 Receptor 191
Natural Metabolites 193
Other Vitamin D Receptor Natural Ligands 194
II
Secosteroidal Analogs of 1α,25-Dihydroxyvitamin D3 195
Structures of Vitamin D Receptor With Analogs That
MECHANISM OF ACTION Induce Structural Rearrangements 200
Synthetic Mimics of 1α,25-Dihydroxyvitamin D3 203
Conclusions and Perspectives 205
9. Genome-Wide Perspectives on Vitamin D Acknowledgments 205
Receptor–Mediated Control of Gene Expression References 206
in Target Cells
12. L igand-Independent Actions of Vitamin D
J. WESLEY PIKE, MARK B. MEYER, SEONG M. LEE, MELDA ONAL AND
Receptor
NANCY A. BENKUSKY
GILLES LAVERNY AND DANIEL METZGER
Introduction 142
The Biology of Vitamin D 142 The Vitamin D Receptor 211
The Metabolic Activation of Vitamin D 144 Skeletal Defects Induced by Impaired Vitamin D Receptor
Overview of the Vitamin D Receptor: The Protein, Its Signaling 211
Structure, and Function 146 Ligand-Independent Role of Vitamin D Receptor in Hair Cycle 212
Recent Advances in the Mechanisms of Action of Vitamin D 149 Unliganded Vitamin D Receptor Repressive Activities Induce
Advances in Understanding the Regulation of the Vitamin D Severe Skeletal Defects 212
Receptor Gene 159 Toward Improved Diagnosis and Treatments of Hereditary
Exploiting Humanized VDR Transgenic Mice to Understand Vitamin D Resistant Rickets Patients 213
Expression, Regulation, and VDR Protein Function In Vivo 163 Conclusion and Perspectives 214
Establishing a Humanized Mouse Model for the Study of Acknowledgments 215
Human Disease 165 References 215
Summary and Conclusions 167
Acknowledgments 167
13. V itamin D and Chromatin
References 167
CARSTEN CARLBERG
10. D iverse Mechanisms of Transcriptional Introduction 217
Regulation by the Vitamin D Receptor The Nuclear Receptor Superfamily Member Vitamin D Receptor 218
Genome-Wide Location of Vitamin D Receptor-Binding Sites 219
JOHN H. WHITE, REYHANEH SALEHI-TABAR, VASSIL DIMITROV AND
CTCF as Organizer of Vitamin D-Dependent Chromatin Domains 220
MANUELLA BOUTTIER
The Impact of Epigenomics 220
Introduction 175 Vitamin D-Triggered Epigenome Changes 221
Interplay Between Transforming Growth Factor β and Vitamin D A Chromatin Model of Vitamin D Signaling Emerges 222
Receptor Signaling 176 Vitamin D Signaling In Vivo 222
The Vitamin D Receptor and Transcription Factor Activator Conclusion 223
Protein-1 177 Acknowledgments 224
Interplay Between VDR and JAK/STAT Signaling in Immunity 177 References 224
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CONTENTS
14. M esenchymal Differentiation, Epigenetic Major Regulatory Functions of Osteoblasts and Osteocytes and
Dynamics, and Interactions With VDR Control by the Vitamin D Endocrine System 297
Effects of 1,25(OH) D on Osteoblast Differentiation 300
2 3
MARK B. MEYER, NANCY A. BENKUSKY AND J. WESLEY PIKE
Regulation of Intracellular Signaling Pathways by 1,25(OH) D 302
2 3
Summary and Conclusions 303
Genetic Control of Mesenchymal Lineage Cells 227
References 304
Epigenetic Fate Determination 231
Osteoblast Enhancer Complex: Consolidated and Dispersed 234
Dynamics of Transdifferentiation 238 18. O steoclastogenesis and Vitamin D
Conclusions 240 YUKO NAKAMICHI, NAOYUKI TAKAHASHI, NOBUYUKI UDAGAWA
Conflict of Interest 240 AND TATSUO SUDA
References 240
Introduction 309
Regulation of Mineral Metabolism by Vitamin D, Parathyroid
15. V itamin D and MicroRNAs
Hormone, and Fibroblast Growth Factor 23 310
HENGGUANG ZHAO, SRI RAMULU N. PULLAGURA, SANDRA RIEGER Phenotypes of Vitamin D Receptor Knockout Mice 311
AND THOMAS S. LISSE Regulation of Osteoclastogenesis by the Receptor Activator of
Introduction 245 Nuclear Factor-κB Ligand/Receptor Activator of Nuclear
MicroRNAs: The Posttranscriptional Age 247 Factor-κB/Osteoprotegerin System 312
In Vitro Regulation of Osteoclastogenesis by Vitamin D 312
Complexity of MicroRNA Regulation, Biogenesis, and
In Vivo Regulation of Osteoclastogenesis by Vitamin D
Posttranscriptional Regulatory Actions 247
Compounds 313
Nuclear Receptors and MicroRNAs 250
Conclusion 315
Duality Among MicroRNAs and the Vitamin D Synthesis,
References 316
Metabolism, and Signaling Systems 250
Interplay Between Vitamin D and MicroRNAs in Biological
Systems 255 19. V itamin D Activities in Osteocytes
Strategies for MicroRNA and Target Identification for
PAUL H. ANDERSON, GERALD J. ATKINS, HOWARD A. MORRIS AND
Vitamin D Research 260 DAVID M. FINDLAY
Concluding Remarks 261
Acknowledgments 262 Introduction 319
References 262 Cell Biology of Osteocytes 320
Direct Actions of 1,25-Dihydroxyvitamin D on Osteocyte
Maturation and Activities 321
16. V itamin D Sterol/Vitamin D Receptor
Receptor Activator of Nuclear Factor κ B Ligand 321
Conformational Dynamics and Nongenomic
Vitamin D Metabolism Within Osteocytes 323
Actions The Role of Osteocytes and Vitamin D in Bone Turnover 323
The Role of Vitamin D and Osteocytes in Endocrine
MATHEW T. MIZWICKI AND ANTHONY W. NORMAN
Feedback 324
Introduction 269 Conclusions 324
1α,25(OH)2 Vitamin D3 Regulation of Genomic Versus References 325
Nongenomic Signaling 270
Vitamin D3 Sterol Chemistry 271 20. R egulation of Intestinal Calcium and
1,25(OH) D -Mediated Rapid, Nongenomic Responses 275
2 3 Phosphate Absorption
The Plasma Membrane Vitamin D Receptor 280
The Vitamin D Receptor Conformational Ensemble Model 281 JAMES C. FLEET
Vitamin D Receptor Ligand Specificity: Does an Unliganded
An Overview of Intestinal Calcium Absorption 329
Vitamin D Receptor Ever Exist In Vivo? 286
An Overview of Intestinal Phosphate Absorption 336
References 287
References 338
III 21. Calbindin-D and Calbindin-D and the
28K 9K
Epithelial Calcium Channels TRPV5 and TRPV6
MINERAL AND BONE HOMEOSTASIS SYLVIA CHRISTAKOS, LEILA J. MADY AND PUNEET DHAWAN
Introduction and General Considerations, the Calbindins 343
17. V itamin D Regulation of Osteoblast Function Localization and Proposed Functional Significance of the
Calbindins 345
JEROEN VAN DE PEPPEL, RENNY T. FRANCESCHI, YAN LI AND
Regulation of Calbindin Gene Expression 349
BRAM C.J. VAN DER EERDEN
Epithelial Calcium Channels 351
Introduction 295 Conclusion 353
Properties of Mature Osteoblasts and Osteocytes 295 References 354
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CONTENTS
22. C alcium Homeostasis and Eggshell Effects of Vitamin D, 25(OH)D3 and 1α,25(OH)2D3 on the
Biomineralization in Female Chicken Renal Handling of Calcium and Phosphorus 441
Distribution and Regulation of Vitamin D-Dependent Proteins
YVES NYS AND NATHALIE LE ROY
in the Kidney 442
Conclusion 450
Introduction 361
References 450
Mineralization Associated With Laying Hen Reproduction 362
Transepithelial Transfer of Calcium 364
Regulation of Calcium Metabolism in Hens 369 27. V itamin D and the Parathyroids
Acknowledgments 378
JUSTIN SILVER AND TALLY NAVEH-MANY
References 378
Introduction 461
23. M ineralization in Mammals Parathyroid Hormone Biosynthesis 462
ADELE L. BOSKEY The Parathyroid Hormone Gene 462
Development of the Parathyroid and Tissue-Specific
Introduction 383 Expression of the Parathyroid Hormone Gene 463
Direct and Indirect Effects of Vitamin D and Vitamin D Regulation of Parathyroid Hormone Gene Expression 463
Metabolites on Mineralization 384 Summary 470
Methods for Quantifying Tissue Mineralization 387 References 471
Mechanism of Effects of Vitamin D on Mineralization 391
Mineralization and Mineral Properties in Systems With 28. T he Calcium-Sensing Receptor and Vitamin D
Vitamin D Alterations 394
GEOFFREY N. HENDY
Conclusions 397
Acknowledgments 398
Introduction 477
References 398
The Calcium-Sensing Receptor 478
Further Reading 403 Overview of Extracellular Ca2+ Homeostasis: Roles of
Calcium-Sensing Receptor and Vitamin D Receptor 481
24. Cartilage
Calcium-Sensing Receptor and Vitamin D Receptor in Tissues
BARBARA D. BOYAN, MARYAM DOROUDI, KAYLA SCOTT AND ZVI SCHWARTZ Involved in Ca2+ Homeostasis 482
Calcium-Sensing Receptor and Vitamin D Receptor in Tissues
Properties of Cartilage Tissues 405 Uninvolved in Extracellular Ca2+ Homeostasis 489
Regulation by Vitamin D 406 Mouse Models of Calcium-Sensing Receptor Deletion
Rapid Actions of Vitamin D and Nongenomic Mechanisms 410 Relative to Presentation in Humans 490
Summary 414 Conclusions 490
References 414 References 490
25. V itamin D and Bone: An Integrated Approach 29. V itamin D in Dentoalveolar and Oral Health
GEERT CARMELIET BRIAN L. FOSTER AND PHILIPPE P. HUJOEL
Link Between Bone Metabolism, Calcium Homeostasis, Introduction 497
and 1,25(OH)2D3 Activity 419 A Brief Primer on Dentoalveolar Cells and Tissues 498
1,25(OH)2D3 and Bone Metabolism During a Positive Vitamin D Metabolism and Mechanisms of Action on
Calcium Balance 420 Dental Cells 501
Negative Calcium Balance Resulting From Insufficient Vitamin D, Rickets, and the Oral Tissues 503
Vitamin D Action 424 Hereditary Vitamin D-Related Diseases and Dentoalveolar
Negative Calcium Balance With Sufficient Vitamin D 426 Tissues 506
Vitamin D and Fibroblast Growth Factor 23 428 Vitamin D and Oral Health 511
Conclusion 429 Conclusions 513
References 430 Acknowledgments 513
References 513
IV
30. T he Role of Vitamin D and Its Receptor in Hair
Follicle Biology
EXTRA-SKELETAL TARGETS
MARIE B. DEMAY
26. V itamin D and the Kidney Introduction 521
Hair Cycle 521
PETER J. TEBBEN AND RAJIV KUMAR
Keratinocyte Stem Cells 523
Introduction 437 Pathways Important for Keratinocyte Stem Cell
Role of the Kidney in the Metabolism of 25-Hydroxyvitamin D 439 Function 523
viii
CONTENTS
The Vitamin D Receptor Suppresses PPARγ Signaling in Translational Considerations 592
Keratinocyte Stem Cells 524 Conclusions and Future Directions 593
Conclusions 524 References 593
References 525
35. V itamin D and Skeletal Muscle
31. V itamin D, Calcium, and the Epidermis
CHRISTIAN M. GIRGIS
DANIEL D. BIKLE
Skeletal Muscle Physiology 597
Introduction 527 Vitamin D Receptor in Muscle 598
Cutaneous Production of Vitamin D and Its Biologically Vitamin D and Calcium Signaling in Muscle 601
Active Metabolites 528 Vitamin D and Phosphate Signaling in Muscle 602
Regulation of Keratinocyte Differentiation 529 Vitamin D and Insulin Signaling in Muscle 602
Role of Vitamin D Signaling in Skin Cancer 537 Vitamin D, Muscle Contraction, and Strength 603
Role of Vitamin D Signaling in Epidermal Wound Repair 538 Vitamin D, Muscle Development, and Mass 604
References 539 Vitamin D, Muscle Injury, and Repair 606
Vitamin D and Age-Related Changes in Muscle 606
32. V itamin D and the Cardiovascular System Vitamin D and Bone Muscle Cross-Talk 607
Conclusions and Future Directions 607
AMY E. RIEK, RITHWICK RAJAGOPAL AND CARLOS BERNAL-MIZRACHI
References 609
Introduction 545
Vascular Physiology 546 36. U nderstanding Vitamin D From Mouse
Identification of the Vitamin D Receptor in the Vascular System 546 Knockout Models
Vascular Relaxation 547
DAVID GOLTZMAN, GEOFFREY N. HENDY, ANDREW C. KARAPLIS,
Structural Vascular Changes 548
RICHARD KREMER AND DENSHUN MIAO
Vascular Inflammation 549
Angiogenesis 551 Vitamin D Metabolism 614
Blood Coagulation and Fibrinolysis 552 1,25 Dihydroxyvitamin D/Vitamin D Receptor System
Animal Models 552 and Mineral and Skeletal Homeostasis 614
Clinical Studies in Cardiovascular Disease 555 Extraskeletal Actions of 1,25 dihydroxyvitamin D 619
Conclusion 556 Conclusion 625
Acknowledgments 556 References 625
References 557 Further Reading 631
33. V itamin D Brain Development and V
Function
DARRYL EYLES AND JOHN J. MCGRATH HUMAN PHYSIOLOGY
Introduction 564
Vitamin D Signaling in the Brain 564 37. P harmacology and Pharmacokinetics
Dietary Vitamin D Deficiency, Effect on Brain Development
INEZ SCHOENMAKERS AND KERRY S. JONES
and Function 567
The Effects of Excess Vitamin D on Brain Development and
Overview 636
Function 571
Vitamin D Absorption 636
Vitamin D Regulates Essential Processes in Normal Brain
Kinetics of Cutaneous Synthesis 638
Development 572
Tissue Distribution 639
Possible Neuroprotective Mechanisms of Vitamin D in the
Metabolism and Determinants of Metabolic Fate of Vitamin D 641
Developing Brain 573
Half-Lives of Vitamin D Metabolites 642
Developmental Vitamin D Deficiency and Neuropsychiatric
Factors Influencing Vitamin D Half-Life 644
Disorders 574
The Pharmacokinetics of Bound and Free Vitamin D
Conclusions 575
Metabolites 646
References 576
Influence of Vitamin D-Binding Protein Genotype and
Concentration on Vitamin D Metabolism and 25(OH)D
34. V itamin D, Vitamin D Receptor, and Adipose
Half-Life 647
Tissue: Focus on Cellular Mechanisms Dose-Response to Vitamin D Supplementation 648
The 3-Epimer of 25(OH)D and 1,25(OH) D 652
CARMEN J. NARVAEZ, DONALD G. MATTHEWS AND JOELLEN WELSH 2
Catabolism and Excretion 652
Adipose Tissue: Storage Depot and Target for Vitamin D 583 Vitamin D Toxicity 653
Effect of Vitamin D on Adipogenesis at the Cellular Level 585 Acknowledgments 653
Impact of Vitamin D Signaling on Adiposity in Mouse Models 590 References 653
ix