LINE-1 Elements in Structural Variation and Disease

Overview

Journal Annu Rev Genomics Hum Genet

Publisher Annual Reviews

Specialty Genetics

Date 2011 Aug 2

PMID 21801021

Citations 318

Authors

Christine R Beck

Jose Luis Garcia-Perez

Richard M Badge

John V Moran

Affiliations

Soon will be listed here.

Abstract

The completion of the human genome reference sequence ushered in a new era for the study and discovery of human transposable elements. It now is undeniable that transposable elements, historically dismissed as junk DNA, have had an instrumental role in sculpting the structure and function of our genomes. In particular, long interspersed element-1 (LINE-1 or L1) and short interspersed elements (SINEs) continue to affect our genome, and their movement can lead to sporadic cases of disease. Here, we briefly review the types of transposable elements present in the human genome and their mechanisms of mobility. We next highlight how advances in DNA sequencing and genomic technologies have enabled the discovery of novel retrotransposons in individual genomes. Finally, we discuss how L1-mediated retrotransposition events impact human genomes.

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