Cell membrane : the red blood cell as a model

Preface XI Foreword XIII Acknowledgments XV 1 Introduction: History of Red Cell Membrane Research 1 1.1 Invention of Optical Microscopes and Their Application to Hematology 1 1.2 Discovery of Hereditary Spherocytosis by Light Microscopy 2 1.3 The Dawn of Red Cell Membrane Research 4 1.4 Commencement of Membrane Protein Biochemistry: Introduction of Sodium Dodecyl Sulfate
Polyacrylamide Gel Electrophoresis 7 1.5 Elucidation of the Pathogenesis of Red Cell Membrane Disorders 11 1.6 Genotypes of Red Cell Membrane Disorders 14 1.7 Reevaluation of Molecular Electron Microscopy for Phenotypes 18 2 Composition of Normal Red Cell Membranes 27 2.1 Introduction 27 2.2 Membrane Lipids 28 2.2.1 The Contents and Nature of Membrane Lipids 28 2.2.2 Asymmetry of the Membrane Lipid Bilayer 31 2.2.3 Membrane Fluidity 32 2.2.4 Renewal of Membrane Lipids 33 2.2.5 Interactions Between Membrane Lipids and Proteins 34 2.2.6 Membrane Lipids as a Determinant of Red Cell Shape 34 2.3 Membrane Proteins 35 2.3.1 Separation and Identification of Membrane Proteins 35 2.3.2 Membrane Proteins and Membrane Structure 36 2.3.3 Membrane Proteins in the Red Cell Surface 37 2.3.4 Membrane Proteins and Membrane Functions 38 2.3.4.1 Red Cell Morphology and Shape Change 38 2.3.4.2 Red Cell Deformability 40 2.3.4.3 Membrane Transport and Permeability 41 Contents V 3 Stereotactic Structure of Red Cell Membranes 47 3.1 Historical Background to Membrane Models 47 3.2 Ultrastructure of Red Cell Membranes 49 3.2.1 Introduction 49 3.2.2 Evaluation of the Cytoskeletal Network 49 3.2.2.1 Electron Microscopy With the Negative Staining Method 49 3.2.2.2 Electron Microscopy With the Quick-Freeze Deep-Etching (QFDE) Method 50 3.2.2.3 Electron Microscopy With the Surface Replica (SR) Method 51 3.2.3 Integral Proteins Examined by Electron Microscopy With the Freeze Fracture Method 53 3.2.4 Visualization of Glycophorins by Field Emission Scanning Electron Microscopy 55 4 Skeletal Proteins 61 4.1
- and -Spectrins 61 4.1.1 Introduction 61 4.1.2 Structure of Red Cell Spectrins 62 4.1.3 Functions of Red Cell Spectrins 63 4.1.4 Erythroid and Nonerythroid Spectrins 65 4.2 Protein 4.1 66 4.2.1 Structure of Protein 4.1 66 4.2.2 Binding to Other Membrane Proteins 68 4.2.3 Extensive Alternative Splicings 69 4.2.4 Nonerythroid Protein 4.1 Isoforms 69 4.3 Actin 71 4.4 Other Minor Skeletal Proteins 72 4.4.1 The p55 Protein 72 4.4.2 Adducin 72 4.4.3 Dematin (Protein 4.9) 73 4.4.4 Tropomyosin 74 4.4.5 Tropomodulin 74 4.4.6 Other Membrane Proteins 74 5 Integral Proteins 81 5.1 Band 3 81 5.1.1 Structure of Band 3 81 5.1.2 Functions of Band 3 83 5.1.2.1 Membrane Protein Binding by the Cytoplasmic Domain of Band 3 83 5.1.2.2 Binding to Glycolytic Enzymes by the Cytoplasmic Domain of Band 3 84 5.1.2.3 Binding to Hemoglobin by the Cytoplasmic Domain of Band 3 84 5.1.2.4 Anion Exchange Channel by the Transmembrane Domain of Band 3 84 5.1.2.5 Lateral and Rotational Mobility of Band 3 85 5.1.2.6 Blood Type Antigens and Band 3 85 5.1.3 Band 3 in Nonerythyroid Cells 87 VI Contents 5.2 Glycophorins 87 5.2.1 Glycophorins A, B, and E 88 5.2.1.1 Glycophorin A (GPA) 88 5.2.1.2 Glycophorin B (GPB) 90 5.2.1.3 Glycophorin E (GPE) 90 5.2.2 Gylcophorins C and D 91 5.2.2.1 Glycophorin C (GPC) 91 5.2.2.2 Glycophorin D (GPD) 92 5.3 Blood Group Antigens 92 5.3.1 ABO Blood Group 92 5.3.2 Rh Blood Group 97 5.3.3 P Blood Group 98 5.3.4 Lutheran Blood Group 99 5.3.5 Kell Blood Group 99 5.3.6 Lewis Blood Group 100 5.3.7 Duffy Blood Group 101 5.3.8 Kidd Blood Group 102 5.3.9 LW Blood Group 102 5.3.10 Ii Blood Group 103 5.3.11 The Diego and Wright Blood Group Antigens on Band 3 103 5.3.12 Other Minor Blood Group Antigens 104 5.4 Glycosyl Phoshatidylinositol (GPI) Anchor Proteins 104 6 Anchoring Proteins 115 6.1 Ankyrin 115 6.1.1 Introduction 115 6.1.2 Structure of Red Cell Ankyrin 115 6.1.2.1 Membrane (Band 3)-Binding Domain of Ankyrin 116 6.1.2.2 Spectrin-Binding Domain of Ankyrin 116 6.1.2.3 Regulatory Domain of Ankyrin 117 6.1.3 Functions of Ankyrin 117 6.1.4 Erythroid and Nonerythroid Ankyrins 118 6.2 Protein 4.2 118 6.2.1 Protein Chemistry of Protein 4.2 118 6.2.2 Functions of Protein 4.2 120 6.2.2.1 Binding Properties of Protein 4.2 120 6.2.2.2 Transglutaminase Activity of Protein 4.2 123 6.2.2.3 Phosphorylation of Protein 4.2 123 6.2.3 Protein 4.2 in Red Cell Membrane Ultrastructure 124 6.2.4 Protein 4.2 Gene 124 6.2.4.1 Characteristics of Genomic DNA 124 6.2.4.2 cDNA of the Protein 4.2 Gene 126 6.2.4.3 Protein 4.2 Gene in Mouse Red Cells 127 6.2.4.4 Tissue-Specific Expression of the Mouse Protein 4.2 Gene and the Pallid Mutation 127 Contents VII 7 Membrane Morphogenesis in Erythroid Cells 133 7.1 Introduction 133 7.2 Red Cell Membrane Proteins During Erythroid Development and Differentiation 136 7.2.1 Expression of Membrane Proteins in Early Erythroid Progenitors (BFU-E and CFU-E) 136 7.2.2 Expression of Membrane Proteins in Early Erythroblasts 137 7.2.3 Expression of Membrane Proteins in Late Erythroblasts 140 7.3 Sequential Expression of Erythroid Membrane Proteins, Particularly Protein 4.2 142 7.3.1 Expression of Red Cell Membrane Protein 4.2 and Its mRNA in Normal Human Erythroid Maturation 145 7.3.2 Developmental Expression of Mouse Red Cell Protein 4.2 mRNA in Erythroid and Nonerythroid Tissues 150 8 States of Methylation in the Promoter of the Genes of
-Spectrin, Band 3, and Protein 4.2 155 8.1 Introduction 155 8.2 Number of 5’-CG-3’ Dinucleotide Sites and Their States of Methylation 157 8.3 Transcriptional Activity of EPB3 and ELB42 in Various Human Cell Types 159 8.4 Methylation in EPB3, ELB42, and SPTB Promoters During Erythroid Development and Differentiation 159 8.5 Methylation in the Disease States 162 9 Disease States of Red Cell Membranes: Their Genotypes and Phenotypes 165 9.1 Incidence of Red Cell Membrane Disorders 166 9.2 Screening Procedures for Membrane Disorders 170 10 Hereditary Spherocytosis (HS) 173 10.1 Definition and History 173 10.2 Clinical and Laboratory Findings 174 10.3 Epidemiology and Genetics 177 10.4 Pathogenesis: Affected Proteins and Their Related Gene Mutations 179 10.4.1 Combined Partial Deficiency of Spectrin and Ankyrin Due to Ankyrin Gene Mutations 179 10.4.2 Partial Deficiency of Band 3 Due to the Band 3 Gene Mutations 189 10.4.3 Protein 4.2 Deficiency 194 10.4.4 Isolated Partial Spectrin Deficiency 198 10.5 Cellular Phenotypes: Spherocytosis and Membrane Transport 199 10.6 Role of the Spleen 200 10.7 Complications 202 10.8 Therapy and Prognosis 204 VIII Contents 11 Hereditary Elliptocytosis (HE) 213 11.1 Definition and Epidemiology 213 11.2 Clinical and Laboratory Findings 215 11.3 Pathogenesis: Affected Proteins and Their Related Gene Mutations 217 11.3.1 Overall Pathogenesis 217 11.3.2 Analysis of Membrane Protein Abnormalities 218 11.3.3 Molecular Etiology 220 11.4 Hereditary Pyropoikilocytosis (HPP) 227 11.5 Southeast Asian Ovalocytosis (SAO) 229 12 Hereditary Stomatocytosis 239 12.1 Introduction 239 12.2 Hereditary Hydrocytosis 241 12.3 Hereditary Xerocytosis 243 12.4 Rhnull Disease 245 13 Acanthocytosis and Its Related Disorders 251 13.1 Introduction 251 13.2 Abetalipoproteinemia 252 13.3 Chorea-Acanthocytosis 254 13.4 McLeod Syndrome 255 13.5 Spur Cells and target Cells 256 14 Abnormalities of Skeletal Proteins 261 14.1
-Spectrin 261 14.1.1 Introduction 261 14.1.2
-Spectrin Abnormalities 263 14.2 -Spectrin 268 14.2.1 Introduction 268 14.2.2 -Spectrin Abnormalities 269 14.2.3 -Spectrin in Tokyo 273 14.2.4 -Spectrin Le Puy in Yamagata 276 14.2.5 -Spectrin Nagoya 279 14.2.6 Correlation Between Genotype and Phenotype Expressions in -Spectrin Anomalies 279 14.3 Protein 4.1 282 14.3.1 Introduction 282 14.3.2 Protein 4.1 Abnormalities 285 14.3.3 Total Deficiency of Protein 4.1: Protein 4.1 (
) Madrid 286 15 Abnormalities of Integral Proteins and Blood Group Antigens 297 15.1 Band 3 297 15.1.1 Introduction 297 15.1.2 Band 3 Abnormalities 299 15.1.3 Total Deficiency of Band 3 302 Contents IX 15.1.4 Homozygous Missense Mutation: Band 3 Fukuoka 309 15.1.5 Total Deficiency of Protein 4.2 Due to the Band 3 Gene Mutations: Band 3 Okinawa 313 15.1.6 Partial Deficiency of Band 3 in Hereditary Spherocytosis 320 15.2 Glycophorins 321 15.2.1 Glycophorin A and B Variants 321 15.2.2 Glycophorin C and D Variants 324 15.3 Blood Group Antigens 325 15.3.1 Rh Blood Group Antigens 325 15.3.2 The Kell Blood Group Antigens (The McLeod Syndrome) 327 16 Abnormalities of Anchoring Proteins 333 16.1 Ankyrin 333 16.1.1 Introduction 333 16.1.2 Ankyrin Mutations in Hereditary Spherocytosis 335 16.1.3 Ankyrin Marburg and Ankyrin Stuttgart 342 16.2 Protein 4.2 345 16.2.1 Introduction 345 16.2.2 Total Deficiency of Protein 4.2 347 16.2.2.1 Clinical Hematology 347 16.2.2.2 Red Cell Membrane Proteins 349 16.2.2.3 Red Cell Membrane Lipids 350 16.2.2.4 Red Cell Deformability 350 16.2.2.5 Biophysical characteristics 352 16.2.2.6 Membrane Transport 355 16.2.2.7 Ultrastructure of Red Cell Membranes In Situ 358 16.2.2.8 Protein 4.2 Gene Mutations 363 16.2.2.9 Band 3 Gene Mutations 365 16.2.3 Partial Deficiency of Protein 4.2 368 16.2.3.1 Partial or Total Lack of One Haploid Set of Mutated Band 3 368 16.2.3.2 Mutations in the Cytoplasmic Domain of Band 3, Which Contains Major Binding Sites for Protein 4.2. 369 16.2.4 Protein 4.2 Doublets 370 17 Abnormalities of Membrane Lipids 379 17.1 Introduction 379 17.2 Lecithin: Cholesterol Acyltransferase (LCAT) Deficiency 382 17.3 -Lipoprotein Deficiency (Acanthocytosis) 392 17.4 Hereditary High Red Cell Membrane Phosphatidylcholine Hemolytic Anemia (HPCHA) 397 17.5
-Lipoprotein Deficiency (Tangier Disease) 404 17.6 Abnormalities Associated With Other Diseases (Target Cells and Spur Cells) 406 18 Closing remarks 415 Index 417