Roles for retrotransposon insertions in human disease

Insertion of an SVA-E retrotransposon into theCASP8gene is associated with protection against prostate cancer

(2016) Simon N. Stacey et al.   HUMAN MOLECULAR GENETICS

Germline Chromothripsis Driven by L1-Mediated Retrotransposition and Alu/Alu Homologous Recombination

(2016) Lusine Nazaryan-Petersen et al.   HUMAN MUTATION

Discovery of unfixed endogenous retrovirus insertions in diverse human populations

(2016) Julia Halo Wildschutte et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Regulatory evolution of innate immunity through co-option of endogenous retroviruses

(2016) E. B. Chuong et al.   SCIENCE

The Reverse Transcriptase Encoded by LINE-1 Retrotransposons in the Genesis, Progression, and Therapy of Cancer

(2016) Ilaria Sciamanna et al.   Frontiers in Chemistry

Chromothripsis: A New Mechanism for Rapid Karyotype Evolution

(2015) Mitchell L. Leibowitz et al.   Annual Review of Genetics

Lineage specific evolution of the VNTR composite retrotransposon central domain and its role in retrotransposition of gibbon LAVA elements

(2015) Iulia Lupan et al.   BMC GENOMICS

Ubiquitous L1 Mosaicism in Hippocampal Neurons

(2015) Kyle R. Upton et al.   CELL

Chromothripsis and Kataegis Induced by Telomere Crisis

(2015) John Maciejowski et al.   CELL

Primate-Specific ORF0 Contributes to Retrotransposon-Mediated Diversity

(2015) Ahmet M. Denli et al.   CELL

Widespread somatic L1 retrotransposition occurs early during gastrointestinal cancer evolution

(2015) Adam D. Ewing et al.   GENOME RESEARCH

Recessive Inheritance of Population-Specific Intronic LINE-1 Insertion Causes a Rotor Syndrome Phenotype

(2015) Tatehiro Kagawa et al.   HUMAN MUTATION

SVA retrotransposition in exon 6 of the coagulation factor IX gene causing severe hemophilia B

(2015) Yuki Nakamura et al.   INTERNATIONAL JOURNAL OF HEMATOLOGY

U6 snRNA Pseudogenes: Markers of Retrotransposition Dynamics in Mammals

(2015) Aurélien J. Doucet et al.   MOLECULAR BIOLOGY AND EVOLUTION

Retrotransposition and Crystal Structure of an Alu RNP in the Ribosome-Stalling Conformation

(2015) Valentina Ahl et al.   MOLECULAR CELL

A 3′ Poly(A) Tract Is Required for LINE-1 Retrotransposition

(2015) Aurélien J. Doucet et al.   MOLECULAR CELL

Retrotransposon insertions in the clonal evolution of pancreatic ductal adenocarcinoma

(2015) Nemanja Rodić et al.   NATURE MEDICINE

Cell Lineage Analysis in Human Brain Using Endogenous Retroelements

(2015) Gilad D. Evrony et al.   NEURON

L1 retrotransposition requires rapid ORF1p oligomerization, a novel coiled coil-dependent property conserved despite extensive remodeling

(2015) M. Nabuan Naufer et al.   NUCLEIC ACIDS RESEARCH

Phosphorylation of ORF1p is required for L1 retrotransposition

(2015) Pamela R. Cook et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Activation of cyclic GMP-AMP synthase by self-DNA causes autoimmune diseases

(2015) Daxing Gao et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

LINE-1 expression and retrotransposition in Barrett’s esophagus and esophageal carcinoma

(2015) Tara T. Doucet-O'Hare et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Genome-wide amplification of proviral sequences reveals new polymorphic HERV-K(HML-2) proviruses in humans and chimpanzees that are absent from genome assemblies

(2015) Catriona M Macfarlane et al.   Retrovirology

The Ro60 autoantigen binds endogenous retroelements and regulates inflammatory gene expression

(2015) T. Hung et al.   SCIENCE

LINE-1 Mediated Insertion into Poc1a (Protein of Centriole 1 A) Causes Growth Insufficiency and Male Infertility in Mice

(2015) Krista A. Geister et al.   PLoS Genetics

The Zinc-Finger Antiviral Protein ZAP Inhibits LINE and Alu Retrotransposition

(2015) John B. Moldovan et al.   PLoS Genetics

SAMHD1 Inhibits LINE-1 Retrotransposition by Promoting Stress Granule Formation

(2015) Siqi Hu et al.   PLoS Genetics

Cross-Species Transmission and Differential Fate of an Endogenous Retrovirus in Three Mammal Lineages

(2015) Xiaoyu Zhuo et al.   PLoS Pathogens

Genomic DNA transposition induced by human PGBD5

(2015) Anton G Henssen et al.   eLife

Transposable element detection from whole genome sequence data

(2015) Adam D. Ewing   Mobile DNA

A novel composite retrotransposon derived from or generated independently of the SVA (SINE/VNTR/Alu) transposon has undergone proliferation in gibbon genomes

(2015) Toru Hara et al.   GENES & GENETIC SYSTEMS

A tumor-promoting mechanism mediated by retrotransposon-encoded reverse transcriptase is active in human transformed cell lines

(2015) Ilaria Sciamanna et al.   Oncotarget

Increased expression and copy number amplification of LINE-1 and SINE B1 retrotransposable elements in murine mammary carcinoma progression

(2015) Alberto Gualtieri et al.   Oncotarget

Regulatory roles of LINE-1-encoded reverse transcriptase in cancer onset and progression

(2015) Ilaria Sciamanna et al.   Oncotarget

L1 Retrotransposons and Somatic Mosaicism in the Brain

(2014) Sandra R. Richardson et al.   Annual Review of Genetics

Cytosolic RNA:DNA hybrids activate the cGAS–STING axis

(2014) Arun K Mankan et al.   EMBO JOURNAL

Somatic retrotransposition in human cancer revealed by whole-genome and exome sequencing

(2014) E. Helman et al.   GENOME RESEARCH

Primary Immunodeficiency Caused by an Exonized Retroposed Gene Copy Inserted in theCYBBGene

(2014) Martin de Boer et al.   HUMAN MUTATION

Hominoid Composite Non-LTR Retrotransposons—Variety, Assembly, Evolution, and Structural Determinants of Mobilization

(2014) Bianca Ianc et al.   MOLECULAR BIOLOGY AND EVOLUTION

Gibbon genome and the fast karyotype evolution of small apes

(2014) Lucia Carbone et al.   NATURE

Identification of RNA polymerase III-transcribed Alu loci by computational screening of RNA-Seq data

(2014) Anastasia Conti et al.   NUCLEIC ACIDS RESEARCH

Linkage disequilibrium and signatures of positive selection around LINE-1 retrotransposons in the human genome

(2014) A. Kuhn et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Extensive transduction of nonrepetitive DNA mediated by L1 retrotransposition in cancer genomes

(2014) J. M. C. Tubio et al.   SCIENCE

Nucleoside reverse transcriptase inhibitors possess intrinsic anti-inflammatory activity

(2014) B. J. Fowler et al.   SCIENCE

SIRT6 represses LINE1 retrotransposons by ribosylating KAP1 but this repression fails with stress and age

(2014) Michael Van Meter et al.   Nature Communications

SVA retrotransposon insertion-associated deletion represents a novel mutational mechanism underlying large genomic copy number changes with non-recurrent breakpoints

(2014) Julia Vogt et al.   GENOME BIOLOGY

Affinity Proteomics Reveals Human Host Factors Implicated in Discrete Stages of LINE-1 Retrotransposition

(2013) Martin S. Taylor et al.   CELL

Endogenous Retrotransposition Activates Oncogenic Pathways in Hepatocellular Carcinoma

(2013) Ruchi Shukla et al.   CELL

Neanderthal and Denisovan retroviruses in modern humans

(2013) Emanuele Marchi et al.   CURRENT BIOLOGY

Chromothripsis in congenital disorders and cancer: similarities and differences

(2013) Wigard P Kloosterman et al.   CURRENT OPINION IN CELL BIOLOGY

Chromothripsis and beyond: rapid genome evolution from complex chromosomal rearrangements

(2013) C.-Z. Zhang et al.   GENES & DEVELOPMENT

Enrichment of processed pseudogene transcripts in L1-ribonucleoprotein particles

(2013) Prabhat K. Mandal et al.   HUMAN MOLECULAR GENETICS

Functional microRNAs and target sites are created by lineage-specific transposition

(2013) Ryan M. Spengler et al.   HUMAN MOLECULAR GENETICS

Characterization of two deletions of the CTRC locus

(2013) Emmanuelle Masson et al.   MOLECULAR GENETICS AND METABOLISM

Signatures of mutational processes in human cancer

(2013) Ludmil B. Alexandrov et al.   NATURE

Mapping the LINE1 ORF1 protein interactome reveals associated inhibitors of human retrotransposition

(2013) John L. Goodier et al.   NUCLEIC ACIDS RESEARCH

Human LINE-1 restriction by APOBEC3C is deaminase independent and mediated by an ORF1p interaction that affects LINE reverse transcriptase activity

(2013) Axel V. Horn et al.   NUCLEIC ACIDS RESEARCH

The Human THAP9 Gene Encodes an Active P-Element DNA Transposase

(2013) S. Majumdar et al.   SCIENCE

Mobile element biology: new possibilities with high-throughput sequencing

(2013) Jinchuan Xing et al.   TRENDS IN GENETICS

Modulation of LINE-1 and Alu/SVA Retrotransposition by Aicardi-Goutières Syndrome-Related SAMHD1

(2013) Ke Zhao et al.   Cell Reports

DNA deaminases induce break-associated mutation showers with implication of APOBEC3B and 3A in breast cancer kataegis

(2013) Benjamin JM Taylor et al.   eLife

Retrotransposition of gene transcripts leads to structural variation in mammalian genomes

(2013) Adam D Ewing et al.   GENOME BIOLOGY

Chromothripsis and Human Disease: Piecing Together the Shattering Process

(2012) Christopher A. Maher et al.   CELL

DICER1 Loss and Alu RNA Induce Age-Related Macular Degeneration via the NLRP3 Inflammasome and MyD88

(2012) Valeria Tarallo et al.   CELL

Single-Neuron Sequencing Analysis of L1 Retrotransposition and Somatic Mutation in the Human Brain

(2012) Gilad D. Evrony et al.   CELL

Mutational Processes Molding the Genomes of 21 Breast Cancers

(2012) Serena Nik-Zainal et al.   CELL

Active human retrotransposons: variation and disease

(2012) Dustin C Hancks et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

Centromere Remodeling in Hoolock leuconedys (Hylobatidae) by a New Transposable Element Unique to the Gibbons

(2012) Lucia Carbone et al.   Genome Biology and Evolution

Extensive somatic L1 retrotransposition in colorectal tumors

(2012) S. Solyom et al.   GENOME RESEARCH

Insertion of an SVA element, a nonautonomous retrotransposon, inPMS2intron 7 as a novel cause of lynch syndrome

(2012) Heleen M. van der Klift et al.   HUMAN MUTATION

Genomic characterization of two large Alu-mediated rearrangements of the BRCA1 gene

(2012) Ana Peixoto et al.   JOURNAL OF HUMAN GENETICS

The Minimal Active Human SVA Retrotransposon Requires Only the 5'-Hexamer and Alu-Like Domains

(2012) D. C. Hancks et al.   MOLECULAR AND CELLULAR BIOLOGY

Poly(A) Binding Protein C1 Is Essential for Efficient L1 Retrotransposition and Affects L1 RNP Formation

(2012) L. Dai et al.   MOLECULAR AND CELLULAR BIOLOGY

An integrated encyclopedia of DNA elements in the human genome

(2012)   NATURE

Circular retrotransposition products generated by a LINE retrotransposon

(2012) Jeffrey S. Han et al.   NUCLEIC ACIDS RESEARCH

Functional characterization of piggyBat from the bat Myotis lucifugus unveils an active mammalian DNA transposon

(2012) R. Mitra et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Cyclic GMP-AMP Synthase Is a Cytosolic DNA Sensor That Activates the Type I Interferon Pathway

(2012) L. Sun et al.   SCIENCE

Effect of reverse transcriptase inhibitors on LINE-1 and Ty1 reverse transcriptase activities and on LINE-1 retrotransposition

(2011) Lixin Dai et al.   BMC BIOCHEMISTRY

Mobile DNA transposition in somatic cells

(2011) Haig H Kazazian   BMC BIOLOGY

An exceptional mutational event leading to Chanarin-Dorfman syndrome in a large consanguineous family

(2011) L. Samuelov et al.   BRITISH JOURNAL OF DERMATOLOGY

Hallmarks of Cancer: The Next Generation

(2011) Douglas Hanahan et al.   CELL

Novel Alu retrotransposon insertion leading to Alström syndrome

(2011) Mustafa Taşkesen et al.   HUMAN GENETICS

Retrotransposition of marked SVA elements by human L1s in cultured cells

(2011) Dustin C. Hancks et al.   HUMAN MOLECULAR GENETICS

Pathogenic orphan transduction created by a nonreference LINE-1 retrotransposon

(2011) Szilvia Solyom et al.   HUMAN MUTATION

Transient hypermutability, chromothripsis and replication-based mechanisms in the generation of concurrent clustered mutations

(2011) Jian-Min Chen et al.   MUTATION RESEARCH-REVIEWS IN MUTATION RESEARCH

lncRNAs transactivate STAU1-mediated mRNA decay by duplexing with 3′ UTRs via Alu elements

(2011) Chenguang Gong et al.   NATURE

Pathogenic exon-trapping by SVA retrotransposon and rescue in Fukuyama muscular dystrophy

(2011) Mariko Taniguchi-Ikeda et al.   NATURE

DICER1 deficit induces Alu RNA toxicity in age-related macular degeneration

(2011) Hiroki Kaneko et al.   NATURE

Somatic retrotransposition alters the genetic landscape of the human brain

(2011) J. Kenneth Baillie et al.   NATURE

Trimeric structure and flexibility of the L1ORF1 protein in human L1 retrotransposition

(2011) Elena Khazina et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Polymerization and nucleic acid-binding properties of human L1 ORF1 protein

(2011) Kathryn E. Callahan et al.   NUCLEIC ACIDS RESEARCH

The non-autonomous retrotransposon SVA is trans -mobilized by the human LINE-1 protein machinery

(2011) Julija Raiz et al.   NUCLEIC ACIDS RESEARCH

Similarities between long interspersed element-1 (LINE-1) reverse transcriptase and telomerase

(2011) H. C. Kopera et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Ataxia telangiectasia mutated (ATM) modulates long interspersed element-1 (L1) retrotransposition in human neural stem cells

(2011) N. G. Coufal et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Exome sequencing and analysis of induced pluripotent stem cells identify the cilia-related gene male germ cell-associated kinase (MAK) as a cause of retinitis pigmentosa

(2011) B. A. Tucker et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The NF1 Gene Contains Hotspots for L1 Endonuclease-Dependent De Novo Insertion

(2011) Katharina Wimmer et al.   PLoS Genetics

Repetitive Elements May Comprise Over Two-Thirds of the Human Genome

(2011) A. P. Jason de Koning et al.   PLoS Genetics

Novel family of human transposable elements formed due to fusion of the first exon of gene MAST2 with retrotransposon SVA

(2010) O. B. Bantysh et al.   BIOCHEMISTRY-MOSCOW

LINE-1 Retrotransposition Activity in Human Genomes

(2010) Christine R. Beck et al.   CELL

Origin and evolution of LINE-1 derived “half-L1” retrotransposons (HAL1)

(2010) Weidong Bao et al.   GENE

High-throughput sequencing reveals extensive variation in human-specific L1 content in individual human genomes

(2010) A. D. Ewing et al.   GENOME RESEARCH

Contemporary retrotransposition of a novel non-coding gene induces exon-skipping in dystrophin mRNA

(2010) Hiroyuki Awano et al.   JOURNAL OF HUMAN GENETICS

Epigenetic silencing of engineered L1 retrotransposition events in human embryonic carcinoma cells

(2010) Jose L. Garcia-Perez et al.   NATURE

L1 retrotransposition in neurons is modulated by MeCP2

(2010) Alysson R. Muotri et al.   NATURE

Neutral lipid storage disease with subclinical myopathy due to a retrotransposal insertion in the PNPLA2 gene

(2010) Hasan O. Akman et al.   NEUROMUSCULAR DISORDERS

Somatic expression of LINE-1 elements in human tissues

(2010) Victoria P. Belancio et al.   NUCLEIC ACIDS RESEARCH

Branchio-oto-renal syndrome caused by partial EYA1 deletion due to LINE-1 insertion

(2010) Naoya Morisada et al.   PEDIATRIC NEPHROLOGY

SVA retrotransposons: Evolution and genetic instability

(2010) Dustin C. Hancks et al.   SEMINARS IN CANCER BIOLOGY

Hypomethylation of a LINE-1 Promoter Activates an Alternate Transcript of the MET Oncogene in Bladders with Cancer

(2010) Erika M. Wolff et al.   PLoS Genetics

Exon deletions and intragenic insertions are not rare in ataxia with oculomotor apraxia 2

(2009) Veronica Bernard et al.   BMC Medical Genetics

Ancient repeat sequence derived from U6 snRNA in primate genomes

(2009) Manel Hasnaoui et al.   GENE

Internal priming: An opportunistic pathway for L1 and Alu retrotransposition in hominins

(2009) Deepa Srikanta et al.   GENE

L1 retrotransposition occurs mainly in embryogenesis and creates somatic mosaicism

(2009) H. Kano et al.   GENES & DEVELOPMENT

Exon-trapping mediated by the human retrotransposon SVA

(2009) D. C. Hancks et al.   GENOME RESEARCH

5'-Transducing SVA retrotransposon groups spread efficiently throughout the human genome

(2009) A. Damert et al.   GENOME RESEARCH

Diverse cis factors controlling Alu retrotransposition: What causes Alu elements to die?

(2009) M. S. Comeaux et al.   GENOME RESEARCH

mRNA Retrotransposition Coupled with 5' Inversion as a Possible Source of New Genes

(2009) K. K. Kojima et al.   MOLECULAR BIOLOGY AND EVOLUTION

L1 retrotransposition in human neural progenitor cells

(2009) Nicole G. Coufal et al.   NATURE

Wnt-mediated activation of NeuroD1 and retro-elements during adult neurogenesis

(2009) Tomoko Kuwabara et al.   NATURE NEUROSCIENCE

The impact of retrotransposons on human genome evolution

(2009) Richard Cordaux et al.   NATURE REVIEWS GENETICS

p53 responsive elements in human retrotransposons

(2009) C R Harris et al.   ONCOGENE

Non-LTR retrotransposons encode noncanonical RRM domains in their first open reading frame

(2009) Elena Khazina et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Many LINE1 elements contribute to the transcriptome of human somatic cells

(2009) Sanjida H Rangwala et al.   GENOME BIOLOGY

Haemophilia A mutations in the UK: results of screening one-third of the population

(2008) P. M. Green et al.   BRITISH JOURNAL OF HAEMATOLOGY

Trex1 Prevents Cell-Intrinsic Initiation of Autoimmunity

(2008) Daniel B. Stetson et al.   CELL

Alu element-mediated gene silencing

(2008) Ling-Ling Chen et al.   EMBO JOURNAL

The impact of multiple splice sites in human L1 elements

(2008) V.P. Belancio et al.   GENE

LINE-1 ORF1 protein enhances Alu SINE retrotransposition

(2008) Nicholas Wallace et al.   GENE

Mammalian non-LTR retrotransposons: For better or worse, in sickness and in health

(2008) V. P. Belancio et al.   GENOME RESEARCH

Multiple waves of recent DNA transposon activity in the bat, Myotis lucifugus

(2008) D. A. Ray et al.   GENOME RESEARCH

Active Alu retrotransposons in the human genome

(2008) E. A. Bennett et al.   GENOME RESEARCH

An alternative pathway for Alu retrotransposition suggests a role in DNA double-strand break repair

(2008) Deepa Srikanta et al.   GENOMICS

Rare mutations ofFGFR2causing apert syndrome: identification of the first partial gene deletion, and anAluelement insertion from a new subfamily

(2008) Elena G. Bochukova et al.   HUMAN MUTATION

Transposable elements and the evolution of regulatory networks

(2008) Cédric Feschotte   NATURE REVIEWS GENETICS

Chromosomal Inversions between Human and Chimpanzee Lineages Caused by Retrotransposons

(2008) Jungnam Lee et al.   PLoS One

Detection of two Alu insertions in the CFTR gene

(2007) Jian-Min Chen et al.   Journal of Cystic Fibrosis

An Alu insertion in compound heterozygosity with a microduplication in GNPTAB gene underlies Mucolipidosis II

(2007) B. Tappino et al.   MOLECULAR GENETICS AND METABOLISM