Splice processes in the neurofibromatosis type 1 (NF 1) gene [Elektronische Ressource] : relevance and evolution / Britta Bartelt

Universität Ulm Abteilung Humangentik Leiter: Prof. Dr. W. Vogel Splice Processes in the Neurofibromatosis Type 1 (NF1) Gene: Relevance and Evolution Dissertation zur Erlangung des Doktorgrades der Humanbiologie der Medizinischen Fakultät der Universität Ulm vorgelegt von Britta Bartelt aus Stade Ulm, 2002 Für meine Eltern Amtierender Dekan: 1. Berichterstatter: 2. Berichterstatter: Tag der Promotion: ABBREVIATIONS 1. INTRODUCTION ............................................................................................................1 1.1. NF1 AS A MODEL FOR THE OUTCOME OF DIFFERENT SPLICE PROCESSES............1 1.2. BACKGROUND ............................................................................................................2 1.2.1. Investigation of Genes Involved in Human Diseases Can Lead to Insights About Normal Splicing............................................................................................................................ 2 1.2.2. Aberrant and Alternative Splicing.............. 3 1.3. QUESTIONS ADDRESSED IN THIS STUDY...................................6 1.3.1. Aberrant splicing in the NF1 gene............................................. 6 1.3.2. Alternative Splice Products of NF1 and Their Function............................................... 7 1.3.3. Conservation of Alternative NF1 Exons..