Mobile Interspersed Repeats Are Major Structural Variants in the Human Genome

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

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

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

[4]  P. Stankiewicz,et al.  Structural variation in the human genome and its role in disease. , 2010, Annual review of medicine.

[5]  Livija Medne,et al.  Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort , 2009, Human mutation.

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

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

[8]  D. Hohl,et al.  Transglutaminase 1‐deficient recessive lamellar ichthyosis associated with a LINE‐1 insertion in Jack Russell terrier dogs , 2009, The British journal of dermatology.

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

[10]  J. Lupski,et al.  Mechanisms for human genomic rearrangements , 2008, PathoGenetics.

[11]  D. Botstein,et al.  Comparing whole genomes using DNA microarrays , 2008, Nature Reviews Genetics.

[12]  P. Deininger,et al.  The impact of multiple splice sites in human L1 elements. , 2008, Gene.

[13]  Philip M. Kim,et al.  Paired-End Mapping Reveals Extensive Structural Variation in the Human Genome , 2007, Science.

[14]  Timothy B. Stockwell,et al.  The Diploid Genome Sequence of an Individual Human , 2007, PLoS biology.

[15]  E. Birney,et al.  Challenges and standards in integrating surveys of structural variation , 2007, Nature Genetics.

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

[17]  E. Eichler,et al.  Mutational and selective effects on copy-number variants in the human genome , 2007, Nature Genetics.

[18]  Stephen L. Gasior,et al.  Characterization of pre-insertion loci of de novo L1 insertions. , 2007, Gene.

[19]  Miriam K. Konkel,et al.  Identification and characterization of novel polymorphic LINE-1 insertions through comparison of two human genome sequence assemblies. , 2007, Gene.

[20]  Lisa Z. Scheifele,et al.  Transposon insertion site profiling chip (TIP-chip) , 2006, Proceedings of the National Academy of Sciences.

[21]  S. Boissinot,et al.  Human Population Genetic Structure and Diversity Inferred from Polymorphic L1(LINE-1) and Alu Insertions , 2006, Human Heredity.

[22]  Y. Lebedev,et al.  Long L1 insertions in human gene introns specifically reduce the content of corresponding primary transcripts , 2006, Genetica.

[23]  J. Nathans,et al.  Effects of L1 retrotransposon insertion on transcript processing, localization and accumulation: lessons from the retinal degeneration 7 mouse and implications for the genomic ecology of L1 elements. , 2006, Human molecular genetics.

[24]  Stephen L. Gasior,et al.  The human LINE-1 retrotransposon creates DNA double-strand breaks. , 2006, Journal of molecular biology.

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

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

[27]  Jeffrey S. Han,et al.  LINE‐1 retrotransposons: Modulators of quantity and quality of mammalian gene expression? , 2005, BioEssays : news and reviews in molecular, cellular and developmental biology.

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

[29]  John Quackenbush,et al.  Multiple-laboratory comparison of microarray platforms , 2005, Nature Methods.

[30]  Circe W. Tsui,et al.  Natural Genetic Variation Caused by Transposable Elements in Humans , 2004, Genetics.

[31]  S. Boissinot,et al.  The insertional history of an active family of L1 retrotransposons in humans. , 2004, Genome research.

[32]  Jef D. Boeke,et al.  Transcriptional disruption by the L1 retrotransposon and implications for mammalian transcriptomes , 2004, Nature.

[33]  Toshihiro Tanaka.  The International HapMap Project , 2003, Nature.

[34]  P. Deininger,et al.  RNA truncation by premature polyadenylation attenuates human mobile element activity , 2003, Nature Genetics.

[35]  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.

[36]  J. Squire,et al.  The role of Alu repeat clusters as mediators of recurrent chromosomal aberrations in tumors , 2002, Genes, chromosomes & cancer.

[37]  J. V. Moran,et al.  A comprehensive analysis of recently integrated human Ta L1 elements. , 2002, American journal of human genetics.

[38]  Tom H. Pringle,et al.  The human genome browser at UCSC. , 2002, Genome research.

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

[40]  G. Mardon,et al.  The retinal determination gene, dachshund, is required for mushroom body cell differentiation. , 2000, Development.

[41]  J A Bailey,et al.  Molecular evidence for a relationship between LINE-1 elements and X chromosome inactivation: the Lyon repeat hypothesis. , 2000, Proceedings of the National Academy of Sciences of the United States of America.

[42]  S. Boissinot,et al.  L1 (LINE-1) retrotransposon evolution and amplification in recent human history. , 2000, Molecular biology and evolution.

[43]  S Shibahara,et al.  An L1 element intronic insertion in the black-eyed white (Mitf[mi-bw]) gene: the loss of a single Mitf isoform responsible for the pigmentary defect and inner ear deafness. , 1999, Human molecular genetics.

[44]  Steffen Lenzner,et al.  Positional cloning of the gene for X-linked retinitis pigmentosa 2 , 1998, Nature Genetics.

[45]  P. Browett,et al.  A 20.7 kb Deletion within the Factor VIII Gene Associated with LINE-1 Element Insertion , 1998, Thrombosis and Haemostasis.

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

[47]  R. Reinhardt,et al.  Positional cloning of the gene for X-linked retinitis pigmentosa 3: homology with the guanine-nucleotide-exchange factor RCC1. , 1996, Human molecular genetics.

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

[49]  C Arnold,et al.  Vectorette PCR: a novel approach to genomic walking. , 1991, PCR methods and applications.

[50]  J. Skowroński,et al.  Unit-length line-1 transcripts in human teratocarcinoma cells , 1988, Molecular and cellular biology.

[51]  S. Antonarakis,et al.  Haemophilia A resulting from de novo insertion of L1 sequences represents a novel mechanism for mutation in man , 1988, Nature.

[52]  D. Mccormick.  Sequence the Human Genome , 1986, Bio/Technology.

[53]  Anushya Muruganujan,et al.  PANTHER: a browsable database of gene products organized by biological function, using curated protein family and subfamily classification , 2003, Nucleic Acids Res..

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

[55]  S Rozen,et al.  Primer3 on the WWW for general users and for biologist programmers. , 2000, Methods in molecular biology.