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Preface ix 1. Identification of the Gene Involved in 4q25-Linked Axenfeld-Rieger Syndrome, PITX2 1 Elena V. Semina Cloning of the PITX2 Gene and Identification of Mutations in Axenfeld-Rieger Syndrome Patients 2 2. Winged Helix/Forkhead Transcription Factors and Rieger Syndrome 10 Darryl Y. Nishimura and Ruth E. Swiderski Genetic Characterization of 6p25 Glaucoma Phenotypes 10 Positional Cloning of FOXC1 12 Winged Helix/Forkhead Gene Family 12 FOXC1 Mutations Cause Anterior Segment Anomalies 13 Functional Characterization of FOXC1 17 FOXC1 Expression 17 Other Forkhead Genes and Anterior Eye Chamber Defects 22 Future Directions 22 3. Rieger Syndrome and PAX6 Deletion 26 Ruth Riise Chromosome Analysis 28 Pax6 Expression 29 4. The Molecular and Biochemical Basis of Axenfeld-Rieger Syndrome 32 Brad A. Amendt Molecular/Biochemical Analysis of PITX2 Transcriptional Activities 33 Biochemical Analysis of PITX2 Mutations Associated with ARS 38 Mechanism of FOXC1 Mutations Associated with ARS 44 Discussion 45 The Role of PITX2 Phosphorylation 46 A Molecular Basis for Phenotypic Variations in ARS Patients 46 The Role of PITX2 Isoforms 46 PITX2D Inhibits the Transcriptional Activity of the Other PITX2 Isoforms 47 PITX2 Mutations 48 FOXC1 Mutations 49 PAX6 Mutations 49 Future Directions 49 5. Role of PITX2 in the Pituitary Gland 54 Hoonkyo Suh, Donna M. Martin, Michael A. Charles, Igor O. Nasonkin, Philip J. Gage and Sally A. Camper Introduction to Pituitary Development and Function 54 Identification of Pitx2 56 Allelic Series of PITX2 Mutations in Mice 57 Cell Transfections Illustrate the Role of Pitx2 in Pituitary Hormone Production 60 Mutations in PITX2 Are One Cause of Rieger Syndrome 60 6. Expression and Function of Pitx2 in Chick Heart Looping 65 Xueyan Yu, Shusheng Wang and YiPing Chen Chick Cardiac Looping 65 Molecular Cascades Regulating Cardiac Looping 66 Expression and Regulation of Pitx2 in Early Developing Chick Embryo 67 Function of Pitx2 in the Regulation of Heart Looping Direction 69 7. The Multiple Roles of Pitx2 in Heart Development 74 James F. Martin Pitx2 As a Final Effector in Left Right Asymmetry 74 The Role of Pitx2 Isoforms 75 Evidence From Loss of Function Studies in Mice 76 Dosage Dependence for Pitx2 in Heart Development 76 Pitx2 in a Prospective Secondary Heart Field That Contributes to Ventricular and Outflow Tract Myocardium 77 Pitx2 Function in Pulmonary and Systemic Vein Development 78 Future Directions 78 8. The Role of PITX2 in Tooth Development 81 Brad A. Amendt Pitx2 Expression Patterns in the Developing Tooth 82 Tooth Epithelial Transcription Factors 83 Transcriptional Mechanisms of PITX2 during Tooth Development 85 A Molecular Basis for Differential Developmental Anomalies in ARS 88 9. PITX Genes and Ocular Development 93 Elena V. Semina Ocular Phenotypes Associated with Mutations in PITX2 and PITX3 Human and Mouse Genes 94 Disorders of the Anterior Segment of the Eye: A Variety of Conditions and Causative Genes, Possible Interactions with PITX Factors 97 10. An Overview of Axenfeld-Rieger Syndrome and the Anterior Segment Developmental Disorders 101 Brad A. Amendt Index 105
Library of Congress Subject Headings for this publication:
Axenfeld-Rieger syndrome -- Molecular aspects.
Abnormalities, Multiple -- genetics.
Gene Expression Regulation, Developmental -- physiology.
Transcription Factors -- metabolism.