Roles for retrotransposon insertions in human disease

Dustin C. Hancks, Haig H. Kazazian

Research output: Contribution to journalReview article

127 Citations (Scopus)

Abstract

Over evolutionary time, the dynamic nature of a genome is driven, in part, by the activity of transposable elements (TE) such as retrotransposons. On a shorter time scale it has been established that new TE insertions can result in single-gene disease in an individual. In humans, the non-LTR retrotransposon Long INterspersed Element-1 (LINE-1 or L1) is the only active autonomous TE. In addition to mobilizing its own RNA to new genomic locations via a "copy-and-paste" mechanism, LINE-1 is able to retrotranspose other RNAs including Alu, SVA, and occasionally cellular RNAs. To date in humans, 124 LINE-1-mediated insertions which result in genetic diseases have been reported. Disease causing LINE-1 insertions have provided a wealth of insight and the foundation for valuable tools to study these genomic parasites. In this review, we provide an overview of LINE-1 biology followed by highlights from new reports of LINE-1-mediated genetic disease in humans.

Original languageEnglish (US)
Article number65
JournalMobile DNA
Volume7
Issue number1
DOIs
StatePublished - May 6 2016

Fingerprint

Retroelements
DNA Transposable Elements
Inborn Genetic Diseases
RNA
Long Interspersed Nucleotide Elements
Ointments
Parasites
Genome
Genes

Keywords

  • Alu
  • Autoimmunity
  • Cancer
  • Disease
  • LINE-1
  • LINE-1
  • Retrotransposition
  • Retrotransposon
  • SVA

ASJC Scopus subject areas

  • Molecular Biology

Cite this

Roles for retrotransposon insertions in human disease. / Hancks, Dustin C.; Kazazian, Haig H.

In: Mobile DNA, Vol. 7, No. 1, 65, 06.05.2016.

Research output: Contribution to journalReview article

@article{406ab2247865409896ae402b61f0fdb0,
title = "Roles for retrotransposon insertions in human disease",
abstract = "Over evolutionary time, the dynamic nature of a genome is driven, in part, by the activity of transposable elements (TE) such as retrotransposons. On a shorter time scale it has been established that new TE insertions can result in single-gene disease in an individual. In humans, the non-LTR retrotransposon Long INterspersed Element-1 (LINE-1 or L1) is the only active autonomous TE. In addition to mobilizing its own RNA to new genomic locations via a {"}copy-and-paste{"} mechanism, LINE-1 is able to retrotranspose other RNAs including Alu, SVA, and occasionally cellular RNAs. To date in humans, 124 LINE-1-mediated insertions which result in genetic diseases have been reported. Disease causing LINE-1 insertions have provided a wealth of insight and the foundation for valuable tools to study these genomic parasites. In this review, we provide an overview of LINE-1 biology followed by highlights from new reports of LINE-1-mediated genetic disease in humans.",
keywords = "Alu, Autoimmunity, Cancer, Disease, LINE-1, LINE-1, Retrotransposition, Retrotransposon, SVA",
author = "Hancks, {Dustin C.} and Kazazian, {Haig H.}",
year = "2016",
month = "5",
day = "6",
doi = "10.1186/s13100-016-0065-9",
language = "English (US)",
volume = "7",
journal = "Mobile DNA",
issn = "1759-8753",
publisher = "BioMed Central",
number = "1",

}

TY - JOUR

T1 - Roles for retrotransposon insertions in human disease

AU - Hancks, Dustin C.

AU - Kazazian, Haig H.

PY - 2016/5/6

Y1 - 2016/5/6

N2 - Over evolutionary time, the dynamic nature of a genome is driven, in part, by the activity of transposable elements (TE) such as retrotransposons. On a shorter time scale it has been established that new TE insertions can result in single-gene disease in an individual. In humans, the non-LTR retrotransposon Long INterspersed Element-1 (LINE-1 or L1) is the only active autonomous TE. In addition to mobilizing its own RNA to new genomic locations via a "copy-and-paste" mechanism, LINE-1 is able to retrotranspose other RNAs including Alu, SVA, and occasionally cellular RNAs. To date in humans, 124 LINE-1-mediated insertions which result in genetic diseases have been reported. Disease causing LINE-1 insertions have provided a wealth of insight and the foundation for valuable tools to study these genomic parasites. In this review, we provide an overview of LINE-1 biology followed by highlights from new reports of LINE-1-mediated genetic disease in humans.

AB - Over evolutionary time, the dynamic nature of a genome is driven, in part, by the activity of transposable elements (TE) such as retrotransposons. On a shorter time scale it has been established that new TE insertions can result in single-gene disease in an individual. In humans, the non-LTR retrotransposon Long INterspersed Element-1 (LINE-1 or L1) is the only active autonomous TE. In addition to mobilizing its own RNA to new genomic locations via a "copy-and-paste" mechanism, LINE-1 is able to retrotranspose other RNAs including Alu, SVA, and occasionally cellular RNAs. To date in humans, 124 LINE-1-mediated insertions which result in genetic diseases have been reported. Disease causing LINE-1 insertions have provided a wealth of insight and the foundation for valuable tools to study these genomic parasites. In this review, we provide an overview of LINE-1 biology followed by highlights from new reports of LINE-1-mediated genetic disease in humans.

KW - Alu

KW - Autoimmunity

KW - Cancer

KW - Disease

KW - LINE-1

KW - LINE-1

KW - Retrotransposition

KW - Retrotransposon

KW - SVA

UR - http://www.scopus.com/inward/record.url?scp=84969567909&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84969567909&partnerID=8YFLogxK

U2 - 10.1186/s13100-016-0065-9

DO - 10.1186/s13100-016-0065-9

M3 - Review article

VL - 7

JO - Mobile DNA

JF - Mobile DNA

SN - 1759-8753

IS - 1

M1 - 65

ER -