Physiological role and quantitative aspects of human nonsense-mediated mRNA decay (NMD) [Elektronische Ressource] / presented by Marcelo Viegas

Dissertation submitted to the Combined Faculties for the Natural Sciences and for Mathematics of the Ruperto-Carola University of Heidelberg, Germany for the degree of Doctor of Natural Sciences presented by Lic. Marcelo Viegas born in Buenos Aires, Argentina Oral-examination:: ................................................ Physiological role and quantitative aspects of human Nonsense-mediated mRNA decay (NMD) Referees: Prof. Dr. Iain Mattaj Prof. Dr. Claus Bartram "Reality is the only truth" Aristoteles. To Kumiko who taught me the deep meaning of the word “love”. To my parents for whom fulfilling my wishes is the source of their happiness. And for Uma, my first niece who is about to come. Abstract Nonsense-mediated mRNA decay (NMD) is a molecular pathway of mRNA surveillance that ensures the rapid degradation of mRNAs containing premature translation termination codons in all studied eukaryotes. Originally, NMD was thought of as a quality control pathway that targets non-functional mRNAs arising from mutations and splicing errors. More recently, NMD has been shown to also regulate normal gene expression and NMD thus emerged as one of the key post-transcriptional mechanisms of gene regulation.