Format

Send to

Choose Destination
Mob DNA. 2016 May 6;7:9. doi: 10.1186/s13100-016-0065-9. eCollection 2016.

Roles for retrotransposon insertions in human disease.

Author information

1
Eccles Institute of Human Genetics, University of Utah School of Medicine, Salt Lake City, UT USA.
2
McKusick-Nathans Institute of Genetic Medicine, The Johns Hopkins School of Medicine, Baltimore, MD USA.

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.

KEYWORDS:

Alu; Autoimmunity; Cancer; Disease; LINE-1; Retrotransposition; Retrotransposon; SVA

Supplemental Content

Full text links

Icon for BioMed Central Icon for PubMed Central
Loading ...
Support Center