Active human retrotransposons: variation and disease.

[1]  M. Batzer,et al.  Mobile DNA: Finding Treasure in Junk , 2013 .

[2]  H. Kazazian,et al.  Pathogenic orphan transduction created by a nonreference LINE‐1 retrotransposon , 2012, Human mutation.

[3]  R. Löwer,et al.  The non-autonomous retrotransposon SVA is trans-mobilized by the human LINE-1 protein machinery , 2011, Nucleic acids research.

[4]  J. V. Moran,et al.  Reprogramming somatic cells into iPS cells activates LINE-1 retroelement mobility. , 2012, Human molecular genetics.

[5]  A. Evsikov,et al.  Novel Alu retrotransposon insertion leading to Alström syndrome , 2012, Human Genetics.

[6]  T. Callens,et al.  The NF1 Gene Contains Hotspots for L1 Endonuclease-Dependent De Novo Insertion , 2011, PLoS genetics.

[7]  S. Dimauro,et al.  Pathogenic exon-trapping by SVA retrotransposon and rescue in Fukuyama muscular dystrophy , 2011, Nature.

[8]  J. V. Moran,et al.  Similarities between long interspersed element-1 (LINE-1) reverse transcriptase and telomerase , 2011, Proceedings of the National Academy of Sciences.

[9]  W. Richard McCombie,et al.  Sperm Methylation Profiles Reveal Features of Epigenetic Inheritance and Evolution in Primates , 2011, Cell.

[10]  J. V. Moran,et al.  LINE-1 elements in structural variation and disease. , 2011, Annual review of genomics and human genetics.

[11]  J. Mattick,et al.  Somatic retrotransposition alters the genetic landscape of the human brain , 2011, Nature.

[12]  H. Kazazian,et al.  Retrotransposition of marked SVA elements by human L1s in cultured cells. , 2011, Human molecular genetics.

[13]  Steffen Schmidt,et al.  Trimeric structure and flexibility of the L1ORF1 protein in human L1 retrotransposition , 2011, Nature Structural &Molecular Biology.

[14]  Adrian M. Stütz,et al.  A Comprehensive Map of Mobile Element Insertion Polymorphisms in Humans , 2011, PLoS genetics.

[15]  D A Kramerov,et al.  Origin and evolution of SINEs in eukaryotic genomes , 2011, Heredity.

[16]  O. Sarig,et al.  An exceptional mutational event leading to Chanarin–Dorfman syndrome in a large consanguineous family , 2011, The British journal of dermatology.

[17]  H. Kazazian,et al.  Whole-genome resequencing allows detection of many rare LINE-1 insertion alleles in humans. , 2011, Genome research.

[18]  Deniz Yorukoglu,et al.  Alu repeat discovery and characterization within human genomes. , 2011, Genome research.

[19]  A. Aravin,et al.  PIWI-interacting small RNAs: the vanguard of genome defence , 2011, Nature Reviews Molecular Cell Biology.

[20]  Kenny Q. Ye,et al.  Mapping copy number variation by population scale genome sequencing , 2010, Nature.

[21]  J. Boeke,et al.  Characterization of L1 retrotransposition with high-throughput dual-luciferase assays , 2010, Nucleic acids research.

[22]  Emmanouil Collab.  A map of human genome variation from population-scale sequencing , 2011, Nature.

[23]  Y. Takeshima,et al.  Contemporary retrotransposition of a novel non-coding gene induces exon-skipping in dystrophin mRNA , 2010, Journal of Human Genetics.

[24]  E. Eichler,et al.  A Human Genome Structural Variation Sequencing Resource Reveals Insights into Mutational Mechanisms , 2010, Cell.

[25]  J. L. Cortés,et al.  Epigenetic Control of Retrotransposon Expression in Human Embryonic Stem Cells , 2010, Molecular and Cellular Biology.

[26]  Sandra L. Martin,et al.  Nucleic acid chaperone properties of ORF1p from the non-LTR retrotransposon, LINE-1 , 2010, RNA biology.

[27]  Fred H. Gage,et al.  L1 retrotransposition in neurons is modulated by MeCP2 , 2010, Nature.

[28]  J. V. Moran,et al.  Characterization of LINE-1 Ribonucleoprotein Particles , 2010, PLoS genetics.

[29]  H. Kazazian,et al.  High-throughput sequencing reveals extensive variation in human-specific L1 content in individual human genomes. , 2010, Genome research.

[30]  J. V. Moran,et al.  Epigenetic silencing of engineered L1 retrotransposition events in human embryonic carcinoma cells , 2010, Nature.

[31]  D. Mager,et al.  Potential mechanisms of endogenous retroviral-mediated genomic instability in human cancer. , 2010, Seminars in cancer biology.

[32]  H. Kazazian,et al.  SVA retrotransposons: Evolution and genetic instability. , 2010, Seminars in cancer biology.

[33]  Jinchuan Xing,et al.  Mobile element scanning (ME-Scan) by targeted high-throughput sequencing , 2010, BMC Genomics.

[34]  D. Valle,et al.  Mobile Interspersed Repeats Are Major Structural Variants in the Human Genome , 2010, Cell.

[35]  Evan E. Eichler,et al.  LINE-1 Retrotransposition Activity in Human Genomes , 2010, Cell.

[36]  Andrew F. Neuwald,et al.  Natural Mutagenesis of Human Genomes by Endogenous Retrotransposons , 2010, Cell.

[37]  S. Dimauro,et al.  Neutral lipid storage disease with subclinical myopathy due to a retrotransposal insertion in the PNPLA2 gene , 2010, Neuromuscular Disorders.

[38]  H. Kazazian,et al.  Discrete subcellular partitioning of human retrotransposon RNAs despite a common mechanism of genome insertion. , 2010, Human molecular genetics.

[39]  A. Federico,et al.  Alu-element insertion in an OPA1 intron sequence associated with autosomal dominant optic atrophy , 2010, Molecular vision.

[40]  M. Matsuo,et al.  Branchio-oto-renal syndrome caused by partial EYA1 deletion due to LINE-1 insertion , 2010, Pediatric Nephrology.

[41]  M. Batzer,et al.  Internal priming: an opportunistic pathway for L1 and Alu retrotransposition in hominins. , 2009, Gene.

[42]  A. Buzdin,et al.  Novel family of human transposable elements formed due to fusion of the first exon of gene MAST2 with retrotransposon SVA , 2009, Biochemistry (Moscow).

[43]  Katsushi Tokunaga,et al.  Exon-trapping mediated by the human retrotransposon SVA. , 2009, Genome research.

[44]  M. Batzer,et al.  5'-Transducing SVA retrotransposon groups spread efficiently throughout the human genome. , 2009, Genome research.

[45]  M. Batzer,et al.  The impact of retrotransposons on human genome evolution , 2009, Nature Reviews Genetics.

[46]  M. Minnerop,et al.  Exon deletions and intragenic insertions are not rare in ataxia with oculomotor apraxia 2 , 2009, BMC Medical Genetics.

[47]  E. Kirkness,et al.  Mobile elements create structural variation: analysis of a complete human genome. , 2009, Genome research.

[48]  Gene W. Yeo,et al.  L1 retrotransposition in human neural progenitor cells , 2009, Nature.

[49]  E. H. Margulies,et al.  An Expressed Fgf4 Retrogene Is Associated with Breed-Defining Chondrodysplasia in Domestic Dogs , 2009, Science.

[50]  E. Ostertag,et al.  L1 retrotransposition occurs mainly in embryogenesis and creates somatic mosaicism. , 2009, Genes & development.

[51]  Oliver Weichenrieder,et al.  Non-LTR retrotransposons encode noncanonical RRM domains in their first open reading frame , 2009, Proceedings of the National Academy of Sciences.

[52]  M. Batzer,et al.  L1 recombination-associated deletions generate human genomic variation , 2008, Proceedings of the National Academy of Sciences.

[53]  Ryan E. Mills,et al.  Active Alu retrotransposons in the human genome. , 2008, Genome research.

[54]  J. Coffin,et al.  Effects of retroviruses on host genome function. , 2008, Annual review of genetics.

[55]  H. Kazazian,et al.  Retrotransposons Revisited: The Restraint and Rehabilitation of Parasites , 2008, Cell.

[56]  P. Green,et al.  Haemophilia A mutations in the UK: results of screening one‐third of the population , 2008, British journal of haematology.

[57]  Jeffrey S. Han,et al.  Conditional activation of a single‐copy L1 transgene in mice by Cre , 2008, Genesis.

[58]  Kenichiro Hata,et al.  DNA methylation of retrotransposon genes is regulated by Piwi family members MILI and MIWI2 in murine fetal testes. , 2008, Genes & development.

[59]  P. Deininger,et al.  Mammalian non-LTR retrotransposons: for better or worse, in sickness and in health. , 2008, Genome research.

[60]  D. Cooper,et al.  Detection of two Alu insertions in the CFTR gene. , 2008, Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society.

[61]  C. Feschotte,et al.  DNA transposons and the evolution of eukaryotic genomes. , 2007, Annual review of genetics.

[62]  K. Tokunaga,et al.  Deletion of entire HLA-A gene accompanied by an insertion of a retrotransposon. , 2007, Tissue antigens.

[63]  P. D. de Jong,et al.  L1 retrotransposition can occur early in human embryonic development. , 2007, Human molecular genetics.

[64]  J. V. Moran,et al.  LINE-1 retrotransposition in human embryonic stem cells. , 2007, Human molecular genetics.

[65]  Ravi Sachidanandam,et al.  Developmentally Regulated piRNA Clusters Implicate MILI in Transposon Control , 2007, Science.

[66]  J. V. Moran,et al.  Distinct mechanisms for trans-mediated mobilization of cellular RNAs by the LINE-1 reverse transcriptase. , 2007, Genome research.

[67]  Ryan E. Mills,et al.  Which transposable elements are active in the human genome? , 2007, Trends in genetics : TIG.

[68]  G. Hannon,et al.  MIWI2 is essential for spermatogenesis and repression of transposons in the mouse male germline. , 2007, Developmental cell.

[69]  J. V. Moran,et al.  Endonuclease-independent LINE-1 retrotransposition at mammalian telomeres , 2007, Nature.

[70]  C. Férec,et al.  A large genomic deletion in the PDHX gene caused by the retrotranspositional insertion of a full‐length LINE‐1 element , 2007, Human mutation.

[71]  Jeffrey S. Han,et al.  Active retrotransposition by a synthetic L1 element in mice , 2006, Proceedings of the National Academy of Sciences.

[72]  M. Batzer,et al.  Emergence of primate genes by retrotransposon-mediated sequence transduction , 2006, Proceedings of the National Academy of Sciences.

[73]  J. V. Moran,et al.  Cis-preferential LINE-1 reverse transcriptase activity in ribonucleoprotein particles , 2006, Nature Structural &Molecular Biology.

[74]  Matthew D. Dyer,et al.  Human genomic deletions mediated by recombination between Alu elements. , 2006, American journal of human genetics.

[75]  Richard Cordaux,et al.  Estimating the retrotransposition rate of human Alu elements. , 2006, Gene.

[76]  Deepak Grover,et al.  dbRIP: A highly integrated database of retrotransposon insertion polymorphisms in humans , 2006, Human mutation.

[77]  E. Ostertag,et al.  L1 integration in a transgenic mouse model. , 2005, Genome research.

[78]  Jerilyn A. Walker,et al.  SVA elements: a hominid-specific retroposon family. , 2005, Journal of molecular biology.

[79]  J. V. Moran,et al.  Ribonucleoprotein particle formation is necessary but not sufficient for LINE-1 retrotransposition. , 2005, Human molecular genetics.

[80]  J. V. Moran,et al.  Multiple Fates of L1 Retrotransposition Intermediates in Cultured Human Cells , 2005, Molecular and Cellular Biology.

[81]  Jean L. Chang,et al.  Initial sequence of the chimpanzee genome and comparison with the human genome , 2005, Nature.

[82]  T. Eickbush,et al.  R2 Target-Primed Reverse Transcription: Ordered Cleavage and Polymerization Steps by Protein Subunits Asymmetrically Bound to the Target DNA , 2005, Molecular and Cellular Biology.

[83]  Jeffrey S. Han,et al.  Gene-breaking: a new paradigm for human retrotransposon-mediated gene evolution. , 2005, Genome research.

[84]  J. Jurka,et al.  Repbase Update, a database of eukaryotic repetitive elements , 2005, Cytogenetic and Genome Research.

[85]  E. Meese,et al.  Human endogenous retroviruses in the primate lineage and their influence on host genomes , 2005, Cytogenetic and Genome Research.

[86]  P. Stenson,et al.  A systematic analysis of LINE-1 endonuclease-dependent retrotranspositional events causing human genetic disease , 2005, Human Genetics.

[87]  Fred H. Gage,et al.  Somatic mosaicism in neuronal precursor cells mediated by L1 retrotransposition , 2005, Nature.

[88]  T. Bestor,et al.  Meiotic catastrophe and retrotransposon reactivation in male germ cells lacking Dnmt3L , 2004, Nature.

[89]  J. Luban,et al.  Cyclophilin A retrotransposition into TRIM5 explains owl monkey resistance to HIV-1 , 2004, Nature.

[90]  E. Ostertag,et al.  SVA elements are nonautonomous retrotransposons that cause disease in humans. , 2003, American journal of human genetics.

[91]  Mark Gerstein,et al.  Millions of years of evolution preserved: a comprehensive catalog of the processed pseudogenes in the human genome. , 2003, Genome research.

[92]  Thierry Heidmann,et al.  LINE-mediated retrotransposition of marked Alu sequences , 2003, Nature Genetics.

[93]  Lichun Yang,et al.  Trans mobilization of genomic DNA as a mechanism for retrotransposon-mediated exon shuffling. , 2003, Human molecular genetics.

[94]  J. V. Moran,et al.  Hot L1s account for the bulk of retrotransposition in the human population , 2003, Proceedings of the National Academy of Sciences of the United States of America.

[95]  H. Kazazian,et al.  Tracking an embryonic L1 retrotransposition event , 2003, Proceedings of the National Academy of Sciences of the United States of America.

[96]  R. Deberardinis,et al.  A mouse model of human L1 retrotransposition , 2002, Nature Genetics.

[97]  Jef D Boeke,et al.  Human L1 element target‐primed reverse transcription in vitro , 2002, The EMBO journal.

[98]  N. Okada,et al.  LINEs Mobilize SINEs in the Eel through a Shared 3′ Sequence , 2002, Cell.

[99]  A. Buzdin,et al.  A new family of chimeric retrotranscripts formed by a full copy of U6 small nuclear RNA fused to the 3' terminus of l1. , 2002, Genomics.

[100]  Jef D Boeke,et al.  Molecular archeology of L1 insertions in the human genome , 2002, Genome Biology.

[101]  J. V. Moran,et al.  DNA repair mediated by endonuclease-independent LINE-1 retrotransposition , 2002, Nature Genetics.

[102]  M. Batzer,et al.  Alu repeats and human genomic diversity , 2002, Nature Reviews Genetics.

[103]  Andrew P Feinberg,et al.  A genome-wide screen for normally methylated human CpG islands that can identify novel imprinted genes. , 2002, Genome research.

[104]  E. Ostertag,et al.  Biology of mammalian L1 retrotransposons. , 2001, Annual review of genetics.

[105]  A. Troxel,et al.  Genomic characterization of recent human LINE-1 insertions: evidence supporting random insertion. , 2001, Genome research.

[106]  W A Scaringe,et al.  Frequency of recent retrotransposition events in the human factor IX gene , 2001, Human mutation.

[107]  M. Speek.  Antisense Promoter of Human L1 Retrotransposon Drives Transcription of Adjacent Cellular Genes , 2001, Molecular and Cellular Biology.

[108]  Jef D. Boeke,et al.  Human L1 Retrotransposition: cisPreference versus trans Complementation , 2001, Molecular and Cellular Biology.

[109]  International Human Genome Sequencing Consortium.  Initial sequencing and analysis of the human genome , 2001, Nature.

[110]  M. Boguski,et al.  Frequent human genomic DNA transduction driven by LINE-1 retrotransposition. , 2000, Genome research.

[111]  Thierry Heidmann,et al.  Human LINE retrotransposons generate processed pseudogenes , 2000, Nature Genetics.

[112]  E. Ostertag,et al.  Transduction of 3'-flanking sequences is common in L1 retrotransposition. , 2000, Human molecular genetics.

[113]  M. Batzer,et al.  Alu repeats and human disease. , 1999, Molecular genetics and metabolism.

[114]  Haig H. Kazazian,et al.  An estimated frequency of endogenous insertional mutations in humans , 1999, Nature Genetics.

[115]  J. V. Moran,et al.  Exon shuffling by L1 retrotransposition. , 1999, Science.

[116]  M. Singer,et al.  The human LINE-1 reverse transcriptase:effect of deletions outside the common reverse transcriptase domain. , 1998, Nucleic acids research.

[117]  C. Walsh,et al.  Cytosine methylation and the ecology of intragenomic parasites. , 1997, Trends in genetics : TIG.

[118]  J. Boeke.  LINEs and Alus — the polyA connection , 1997, Nature Genetics.

[119]  Jef D Boeke,et al.  High Frequency Retrotransposition in Cultured Mammalian Cells , 1996, Cell.

[120]  Jef D Boeke,et al.  Human L1 Retrotransposon Encodes a Conserved Endonuclease Required for Retrotransposition , 1996, Cell.

[121]  H. Hohjoh,et al.  Cytoplasmic ribonucleoprotein complexes containing human LINE‐1 protein and RNA. , 1996, The EMBO journal.

[122]  H. Kazazian,et al.  A new retrotransposable human L1 element from the LRE2 locus on chromosome 1q produces a chimaeric insertion , 1994, Nature Genetics.

[123]  C. Y. Yu,et al.  Structure and genetics of the partially duplicated gene RP located immediately upstream of the complement C4A and the C4B genes in the HLA class III region. Molecular cloning, exon-intron structure, composite retroposon, and breakpoint of gene duplication. , 1994, The Journal of biological chemistry.

[124]  T. Eickbush,et al.  Reverse transcription of R2Bm RNA is primed by a nick at the chromosomal target site: A mechanism for non-LTR retrotransposition , 1993, Cell.

[125]  K. Kinzler,et al.  Disruption of the APC gene by a retrotransposal insertion of L1 sequence in a colon cancer. , 1992, Cancer research.

[126]  A. F. Scott,et al.  Isolation of an active human transposable element. , 1991, Science.

[127]  J. Boeke,et al.  Reverse transcriptase encoded by a human transposable element. , 1991, Science.

[128]  M. Ono,et al.  A novel human nonviral retroposon derived from an endogenous retrovirus. , 1987, Nucleic acids research.

[129]  A. F. Scott,et al.  Origin of the human L1 elements: Proposed progenitor genes deduced from a consensus DNA sequence☆ , 1987, Genomics.

[130]  G. Grimaldi,et al.  Defining the beginning and end of KpnI family segments. , 1984, The EMBO journal.