title: Alu elements: at the crossroads between disease and evolution.
abstract: The cost of DNA sequencing is decreasing year by year, and the era of personalized medicine and the $1000 genome seems to be just around the corner. In order to link genetic variation to gene function, however, we need to learn more about the function of the non-coding genomic elements. The advance of high-throughput sequencing enabled rapid progress in mapping the functional elements in our genome. In the present article, I discuss how intronic mutations acting at Alu elements enable formation of new exons. I review the mutations that cause disease when promoting a major increase in the inclusion of Alu exon into mature transcripts. Moreover, I present the mechanism that represses such a major inclusion of Alu exons and instead enables a gradual evolution of Alu elements into new exons.
authors.forename: Jernej
authors.initials: J
authors.lastname: Ule
mesh_terms: D020087:Alu Elements / Q000235:genetics*; D004194:Disease / Q000235:genetics*; D019143:Evolution, Molecular; D005091:Exons / Q000235:genetics; D006801:Humans