SVA retrotransposons: Evolution and genetic instability

Dustin C. Hancks, Haig H. Kazazian

Research output: Contribution to journalReview article

71 Citations (Scopus)

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.

Original languageEnglish (US)
Pages (from-to)234-245
Number of pages12
JournalSeminars in Cancer Biology
Volume20
Issue number4
DOIs
StatePublished - Aug 1 2010

Fingerprint

Retroelements
Molecular Evolution
Short Interspersed Nucleotide Elements
Insertional Mutagenesis
RNA-Directed DNA Polymerase
Hominidae
Alternative Splicing
Exons

Keywords

  • Retrotransposon
  • SVA

ASJC Scopus subject areas

  • Cancer Research

Cite this

SVA retrotransposons : Evolution and genetic instability. / Hancks, Dustin C.; Kazazian, Haig H.

In: Seminars in Cancer Biology, Vol. 20, No. 4, 01.08.2010, p. 234-245.

Research output: Contribution to journalReview article

Hancks, Dustin C. ; Kazazian, Haig H. / SVA retrotransposons : Evolution and genetic instability. In: Seminars in Cancer Biology. 2010 ; Vol. 20, No. 4. pp. 234-245.
@article{4b7bb7dbb1c142918241656dd803a686,
title = "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.",
keywords = "Retrotransposon, SVA",
author = "Hancks, {Dustin C.} and Kazazian, {Haig H.}",
year = "2010",
month = "8",
day = "1",
doi = "10.1016/j.semcancer.2010.04.001",
language = "English (US)",
volume = "20",
pages = "234--245",
journal = "Seminars in Cancer Biology",
issn = "1044-579X",
publisher = "Academic Press Inc.",
number = "4",

}

TY - JOUR

T1 - SVA retrotransposons

T2 - Evolution and genetic instability

AU - Hancks, Dustin C.

AU - Kazazian, Haig H.

PY - 2010/8/1

Y1 - 2010/8/1

N2 - 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.

AB - 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.

KW - Retrotransposon

KW - SVA

UR - http://www.scopus.com/inward/record.url?scp=77956862387&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=77956862387&partnerID=8YFLogxK

U2 - 10.1016/j.semcancer.2010.04.001

DO - 10.1016/j.semcancer.2010.04.001

M3 - Review article

C2 - 20416380

AN - SCOPUS:77956862387

VL - 20

SP - 234

EP - 245

JO - Seminars in Cancer Biology

JF - Seminars in Cancer Biology

SN - 1044-579X

IS - 4

ER -