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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.

SUBMITTER: Hancks DC 

PROVIDER: S-EPMC2945828 | biostudies-literature | 2010 Aug

REPOSITORIES: biostudies-literature

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SVA retrotransposons: Evolution and genetic instability.

Hancks Dustin C DC   Kazazian Haig H HH  

Seminars in cancer biology 20100421 4


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  ...[more]

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