title: Roles for retrotransposon insertions in human disease.
abstract: Over evolutionary time, the dynamic nature of a genome is driven, in part, by the activity of transposable elements (TE) such as retrotransposons. On a shorter time scale it has been established that new TE insertions can result in single-gene disease in an individual. In humans, the non-LTR retrotransposon Long INterspersed Element-1 (LINE-1 or L1) is the only active autonomous TE. In addition to mobilizing its own RNA to new genomic locations via a "copy-and-paste" mechanism, LINE-1 is able to retrotranspose other RNAs including Alu, SVA, and occasionally cellular RNAs. To date in humans, 124 LINE-1-mediated insertions which result in genetic diseases have been reported. Disease causing LINE-1 insertions have provided a wealth of insight and the foundation for valuable tools to study these genomic parasites. In this review, we provide an overview of LINE-1 biology followed by highlights from new reports of LINE-1-mediated genetic disease in humans.
authors.affiliation: Eccles Institute of Human Genetics, University of Utah School of Medicine, Salt Lake City, UT USA.
authors.forename: Dustin C
authors.initials: DC
authors.lastname: Hancks
authors.affiliation: McKusick-Nathans Institute of Genetic Medicine, The Johns Hopkins School of Medicine, Baltimore, MD USA.
authors.forename: Haig H
authors.initials: HH
authors.lastname: Kazazian
keywords: Alu; Autoimmunity; Cancer; Disease; LINE-1; Retrotransposition; Retrotransposon; SVA