SVA retrotransposons: Evolution and genetic instability

Dustin C. Hancks; Haig H. Kazazian

doi:10.1016/j.semcancer.2010.04.001

SVA retrotransposons: Evolution and genetic instability

Dustin C. Hancks, Haig H. Kazazian

Research output: Contribution to journal › Review article › peer-review

123 Scopus citations

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 language	English (US)
Pages (from-to)	234-245
Number of pages	12
Journal	Seminars in Cancer Biology
Volume	20
Issue number	4
DOIs	https://doi.org/10.1016/j.semcancer.2010.04.001
State	Published - Aug 2010

Keywords

Retrotransposon
SVA

ASJC Scopus subject areas

Cancer Research

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10.1016/j.semcancer.2010.04.001

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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.}",

note = "Funding Information: D.C.H. is funded by a T32GM008216 from the N.I.H. Research in the Kazazian laboratory is funded by R01s awarded to H.H.K. from the N.I.H. We thank the guest editors for the invitation to submit this review. We also thank Dr. John Goodier for critical reading of this manuscript and helpful discussions. ",

year = "2010",

month = aug,

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.",

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}

TY - JOUR

T1 - SVA retrotransposons

T2 - Evolution and genetic instability

AU - Hancks, Dustin C.

AU - Kazazian, Haig H.

N1 - Funding Information: D.C.H. is funded by a T32GM008216 from the N.I.H. Research in the Kazazian laboratory is funded by R01s awarded to H.H.K. from the N.I.H. We thank the guest editors for the invitation to submit this review. We also thank Dr. John Goodier for critical reading of this manuscript and helpful discussions.

PY - 2010/8

Y1 - 2010/8

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

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U2 - 10.1016/j.semcancer.2010.04.001

DO - 10.1016/j.semcancer.2010.04.001

M3 - Review article

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AN - SCOPUS:77956862387

SN - 1044-579X

VL - 20

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EP - 245

JO - Seminars in Cancer Biology

JF - Seminars in Cancer Biology

IS - 4

ER -

SVA retrotransposons: Evolution and genetic instability

Abstract

Keywords

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