SVA retrotransposons: Evolution and genetic instability.

Abstract:

:SINE-VNTR-Alus (SVA) are non-autonomous hominid specific retrotransposons that are associated with disease in humans. SVAs are evolutionarily young and presumably mobilized by the LINE-1 reverse transcriptase in trans. SVAs are currently active and may impact the host through a variety of mechanisms including insertional mutagenesis, exon shuffling, alternative splicing, and the generation of differentially methylated regions (DMR). Here we review SVA biology, including SVA insertions associated with known diseases. Further, we discuss a model describing the initial formation of SVA and the mechanisms by which SVA may impact the host.

journal_name

Semin Cancer Biol

authors

Hancks DC,Kazazian HH Jr

doi

10.1016/j.semcancer.2010.04.001

subject

Has Abstract

pub_date

2010-08-01 00:00:00

pages

234-45

issue

4

eissn

1044-579X

issn

1096-3650

pii

S1044-579X(10)00022-2

journal_volume

20

pub_type

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