SVA retrotransposons: Evolution and genetic instability

Dustin C. Hancks, Haig H. Kazazian

Research output: Contribution to journalReview articlepeer-review

110 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)234-245
Number of pages12
JournalSeminars in Cancer Biology
Issue number4
StatePublished - Aug 2010


  • Retrotransposon
  • SVA

ASJC Scopus subject areas

  • Cancer Research


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