Identification and functional characterization of protein domains in the transcription factor TWIST [Elektronische Ressource] / von Shalini Singh

Aus dem Zentrum für Humangenetik der Philipps-Universität Marburg Director: Professor Dr. Karl-Heinz Grzeschik Identification and functional characterization of protein domains in the transcription factor TWIST Inaugural Dissertation zur Erlangung des Doktorgrades der Humanbiologie (Dr. Rer. physiol) dem Fachbereich Humanmedizin der Philipps-Universität Marburg, Germany vorgelegt von Shalini Singh aus Meerut, India Marburg, December 2005 Referent HD. Dr. Jürgen Kunz Zentrum für Humangenetik Philipps-Universität Marburg Dedicated To my Loving and Adorable Daughter Parinita Contents Contents Page Abbreviations 1 1 Introduction 3 1.1 Craniosynostosis 3 1.2 Acrocephalosyndactyly 4 1.3 The Saethre-Chotzen syndrome 5 1.4 TWIST1 gene structure 6 1.5 The Saethre-Chotzen syndrome is based on mutation in the human TWIST1 gene 6 1.6 TWIST protein 8 1.7 Twist functions 11 1.8 Aims of the study 14 2 Materials and Methods 15 2.1 Materials 15 2.1.1 Equipments 15 2.1.2 Chemicals 17 2.1.3 Buffers and solutions 17 2.1.4 Enzymes 19 2.1.5 DNA and protein size standards 20 2.1.6 Oligonucleotides 20 2.1.7 Vectors 23 2.1.8 Kit systems 23 2.1.9 Bacterial System 24 2.1.10 Antibiotic stock solutions 24 2.1.11 Nutrition medium and media plates 24 2.1.12 Yeast strains 27 2.1.13 Human cell-line 27 2.1.