The role of PRKG2 in Angus dwarfism
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iv CHAPTER 1. GENERAL INTRODUCTION 1 AIMS AND OBJECTIVES 3 THESIS ORGANIZATION 3 REVIEW OF RELEVANT LITERATURE 5 HISTORY OF BOVINE DWARFISM 5 DETECTION OF MAJOR GENE MUTATIONS 7 BONE GROWTH AND DEVELOPMENT 21 FORMS OF SKELETAL DISEASE 30 CURRENT KNOWLEDGE OF THE PROPERTIES AND FUNCTIONS OF PRKG2 37 ABBREVIATION KEY 45 REFERENCES 46 CHAPTER 2. A NONSENSE MUTATION IN CGMP-DEPENDANT, TYPE II, PROTEIN KINASE (PRKG2) CAUSES DWARFISM IN AMERICAN ANGUS CATTLE 64 ABSTRACT 64 INTRODUCTION 65 MATERIALS AND METHODS 67 RESULTS 74 DISCUSSION 79 CONCLUSIONS 85 ACKNOWLEDGEMENTS 85 REFERENCES 86 FIGURES AND TABLES 89 CHAPTER 3. BEAP: THE BLAST EXTENSION AND ALIGNMENT TOOL PROGRAM FOR CONTIG CONSTRUCTION AND EXTENSION OF LOW PASS SEQUENCED GENOMES-APPLICATION TO FINE-MAPPING OF THE ANGUS DWARFISM LOCUS 106 ABSTRACT 106 INTRODUCTION 107 MATERIALS AND METHODS 109 RESULTS 113 DISCUSSION 117 CONCLUSIONS 122 ACKNOWLEDGEMENTS 123 REFERENCES 123 FIGURES AND TABLES 124
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iv CHAPTER 1. GENERAL INTRODUCTION 1 AIMS AND OBJECTIVES 3 THESIS ORGANIZATION 3 REVIEW OF RELEVANT LITERATURE 5 HISTORY OF BOVINE DWARFISM 5 DETECTION OF MAJOR GENE MUTATIONS 7 BONE GROWTH AND DEVELOPMENT 21 FORMS OF SKELETAL DISEASE 30 CURRENT KNOWLEDGE OF THE PROPERTIES AND FUNCTIONS OF PRKG2 37 ABBREVIATION KEY 45 REFERENCES 46 CHAPTER 2. A NONSENSE MUTATION IN CGMP-DEPENDANT, TYPE II, PROTEIN KINASE (PRKG2) CAUSES DWARFISM IN AMERICAN ANGUS CATTLE 64 ABSTRACT 64 INTRODUCTION 65 MATERIALS AND METHODS 67 RESULTS 74 DISCUSSION 79 CONCLUSIONS 85 ACKNOWLEDGEMENTS 85 REFERENCES 86 FIGURES AND TABLES 89 CHAPTER 3. BEAP: THE BLAST EXTENSION AND ALIGNMENT TOOL PROGRAM FOR CONTIG CONSTRUCTION AND EXTENSION OF LOW PASS SEQUENCED GENOMES-APPLICATION TO FINE-MAPPING OF THE ANGUS DWARFISM LOCUS 106 ABSTRACT 106 INTRODUCTION 107 MATERIALS AND METHODS 109 RESULTS 113 DISCUSSION 117 CONCLUSIONS 122 ACKNOWLEDGEMENTS 123 REFERENCES 123 FIGURES AND TABLES 124
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