Roles for retrotransposon insertions in human disease
Top Cited Papers
Open Access
- 6 May 2016
- journal article
- review article
- Published by Springer Science and Business Media LLC in Mobile DNA
- Vol. 7 (1), 1-28
- https://doi.org/10.1186/s13100-016-0065-9
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
Funding Information
- American Cancer Society (125132-PF-13-371-01-MPC)
This publication has 173 references indexed in Scilit:
- Single-Neuron Sequencing Analysis of L1 Retrotransposition and Somatic Mutation in the Human BrainCell, 2012
- Active human retrotransposons: variation and diseaseCurrent Opinion in Genetics & Development, 2012
- Mutational Processes Molding the Genomes of 21 Breast CancersCell, 2012
- DICER1 Loss and Alu RNA Induce Age-Related Macular Degeneration via the NLRP3 Inflammasome and MyD88Cell, 2012
- Chromothripsis and Human Disease: Piecing Together the Shattering ProcessCell, 2012
- Pathogenic orphan transduction created by a nonreference LINE-1 retrotransposonHuman Mutation, 2011
- Novel Alu retrotransposon insertion leading to Alström syndromeHuman Genetics, 2011
- Hallmarks of Cancer: The Next GenerationCell, 2011
- LINE-1 Retrotransposition Activity in Human GenomesCell, 2010
- Trex1 Prevents Cell-Intrinsic Initiation of AutoimmunityCell, 2008