nonsense-mediated decay enables intron gain in drosophilanonsense-mediated衰变使果蝇的基因内区获得.pdfVIP

Nonsense-Mediated Decay Enables Intron Gain in Drosophila . . ¨ Ashley Farlow , Eshwar Meduri , Marlies Dolezal, Liushuai Hua, Christian Schlotterer* ¨ ¨ ¨ Institut fur Populationsgenetik, Veterinarmedizinische Universitat Wien, Wien, Austria Abstract Intron number varies considerably among genomes, but despite their fundamental importance, the mutational mechanisms and evolutionary processes underlying the expansion of intron number remain unknown. Here we show that Drosophila, in contrast to most eukaryotic lineages, is still undergoing a dramatic rate of intron gain. These novel introns carry significantly weaker splice sites that may impede their identification by the spliceosome. Novel introns are more likely to encode a premature termination codon (PTC), indicating that nonsense-mediated decay (NMD) functions as a backup for weak splicing of new introns. Our data suggest that new introns originate when genomic insertions with weak splice sites are hidden from selection by NMD. This mechanism reduces the sequence requirement imposed on novel introns and implies that the capacity of the spliceosome to recognize weak splice sites was a prerequisite for intron gain during eukaryotic evolution. ¨ Citation: Farlow A, Meduri E, Dolezal M, Hua L, Schlotterer C (2010) Nonsense-Mediated Decay Enables Intron Gain in Drosophila. PLoS Genet 6(1): e1000819. doi:10.1371/journal.pgen.1000819 Editor: Takashi Gojobori, National Institute of Genetics, Japan Received October 19, 2009; Accepted December 18, 2009; Published January 22, 2010 Copyright: 2010 Farlow et al. This is a