The endonuclease domain of the LINE-1 ORF2 protein can tolerate multiple mutations.

ABSTRACT:

Background

Approximately 17 % of the human genome is comprised of the Long INterspersed Element-1 (LINE-1 or L1) retrotransposon, the only currently active autonomous family of retroelements. Though L1 elements have helped to shape mammalian genome evolution over millions of years, L1 activity can also be mutagenic and result in human disease. L1 expression has the potential to contribute to genomic instability via retrotransposition and DNA double-strand breaks (DSBs). Additionally, L1 is responsible for structural genomic variations induced by other transposable elements such as Alu and SVA, which rely on the L1 ORF2 protein for their propagation. Most of the genomic damage associated with L1 activity originates with the endonuclease domain of the ORF2 protein, which nicks the DN

SUBMITTER: Kines KJ 

PROVIDER: S-EPMC4837594 | biostudies-literature | 2016

REPOSITORIES: biostudies-literature