{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,14]],"date-time":"2026-01-14T22:44:31Z","timestamp":1768430671353,"version":"3.49.0"},"reference-count":133,"publisher":"Springer Science and Business Media LLC","issue":"5","license":[{"start":{"date-parts":[[2005,6,28]],"date-time":"2005-06-28T00:00:00Z","timestamp":1119916800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Hum Genet"],"published-print":{"date-parts":[[2005,9]]},"DOI":"10.1007\/s00439-005-1321-0","type":"journal-article","created":{"date-parts":[[2005,6,27]],"date-time":"2005-06-27T19:51:42Z","timestamp":1119901902000},"page":"411-427","source":"Crossref","is-referenced-by-count":195,"title":["A systematic analysis of LINE-1 endonuclease-dependent retrotranspositional events causing human genetic disease"],"prefix":"10.1007","volume":"117","author":[{"given":"Jian-Min","family":"Chen","sequence":"first","affiliation":[]},{"given":"Peter D.","family":"Stenson","sequence":"additional","affiliation":[]},{"given":"David N.","family":"Cooper","sequence":"additional","affiliation":[]},{"given":"Claude","family":"F\u00e9rec","sequence":"additional","affiliation":[]}],"member":"297","published-online":{"date-parts":[[2005,6,28]]},"reference":[{"key":"1321_CR1","doi-asserted-by":"crossref","first-page":"2247","DOI":"10.1093\/hmg\/6.13.2247","volume":"6","author":"S Abdelhak","year":"1997","unstructured":"Abdelhak S, Kalatzis V, Heilig R, Compain S, Samson D, Vincent C, Levi-Acobas F, Cruaud C, Le Merrer M, Mathieu M, Konig R, Vigneron J, Weissenbach J, Petit C, Weil D (1997) Clustering of mutations responsible for branchio-oto-renal (BOR) syndrome in the eyes absent homologous region (eyaHR) of EYA1. Hum Mol Genet 6:2247\u20132255","journal-title":"Hum Mol Genet"},{"key":"1321_CR2","doi-asserted-by":"crossref","first-page":"136","DOI":"10.1006\/geno.1995.1224","volume":"29","author":"SS Arcot","year":"1995","unstructured":"Arcot SS, Wang Z, Weber JL, Deininger PL, Batzer MA (1995) Alu repeats: a source for the genesis of primate microsatellites. Genomics 29:136\u2013144","journal-title":"Genomics"},{"key":"1321_CR3","doi-asserted-by":"crossref","first-page":"343","DOI":"10.1002\/humu.20009","volume":"23","author":"MP Audrezet","year":"2004","unstructured":"Audrezet MP, Chen JM, Raguenes O, Chuzhanova N, Giteau K, Le Marechal C, Quere I, Cooper DN, Ferec C (2004) Genomic rearrangements in the CFTR gene: extensive allelic heterogeneity and diverse mutational mechanisms. Hum Mutat 23:343\u2013357","journal-title":"Hum Mutat"},{"key":"1321_CR4","doi-asserted-by":"crossref","first-page":"823","DOI":"10.1086\/373939","volume":"72","author":"RM Badge","year":"2003","unstructured":"Badge RM, Alisch RS, Moran JV (2003) ATLAS: a system to selectively identify human-specific L1 insertions. Am J Hum Genet 72:823\u2013838","journal-title":"Am J Hum Genet"},{"key":"1321_CR5","doi-asserted-by":"crossref","first-page":"370","DOI":"10.1038\/nrg798","volume":"3","author":"MA Batzer","year":"2002","unstructured":"Batzer MA, Deininger PL (2002) Alu repeats and human genomic diversity. Nat Rev Genet 3:370\u2013379","journal-title":"Nat Rev Genet"},{"key":"1321_CR6","doi-asserted-by":"crossref","first-page":"6793","DOI":"10.1093\/nar\/18.23.6793","volume":"18","author":"MA Batzer","year":"1990","unstructured":"Batzer MA, Kilroy GE, Richard PE, Shaikh TH, Desselle TD, Hoppens CL, Deininger PL (1990) Structure and variability of recently inserted Alu family members. Nucleic Acids Res 18:6793\u20136798","journal-title":"Nucleic Acids Res"},{"key":"1321_CR7","doi-asserted-by":"crossref","first-page":"418","DOI":"10.1006\/jmbi.1994.0150","volume":"247","author":"MA Batzer","year":"1995","unstructured":"Batzer MA, Rubin CM, Hellmann-Blumberg U, Alegria-Hartman M, Leeflang EP, Stern JD, Bazan HA, Shaikh TH, Deininger PL, Schmid CW (1995) Dispersion and insertion polymorphism in two small subfamilies of recently amplified human Alu repeats. J Mol Biol 247:418\u2013427","journal-title":"J Mol Biol"},{"key":"1321_CR8","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1007\/BF00163204","volume":"42","author":"MA Batzer","year":"1996","unstructured":"Batzer MA, Deininger PL, Hellmann-Blumberg U, Jurka J, Labuda D, Rubin CM, Schmid CW, Zietkiewicz E, Zuckerkandl E (1996) Standardized nomenclature for Alu repeats. J Mol Evol 42:3\u20136","journal-title":"J Mol Evol"},{"key":"1321_CR9","doi-asserted-by":"crossref","first-page":"715","DOI":"10.1055\/s-0037-1613898","volume":"83","author":"NJ Beauchamp","year":"2000","unstructured":"Beauchamp NJ, Makris M, Preston FE, Peake IR, Daly ME (2000) Major structural defects in the antithrombin gene in four families with type I antithrombin deficiency\u2013partial\/complete deletions and rearrangement of the antithrombin gene. Thromb Haemost 83:715\u2013721","journal-title":"Thromb Haemost"},{"key":"1321_CR10","doi-asserted-by":"crossref","first-page":"933","DOI":"10.1534\/genetics.104.031757","volume":"168","author":"EA Bennett","year":"2004","unstructured":"Bennett EA, Coleman LE, Tsui C, Pittard WS, Devine SE (2004) Natural genetic variation caused by transposable elements in humans. Genetics 168:933\u2013951","journal-title":"Genetics"},{"key":"1321_CR11","doi-asserted-by":"crossref","first-page":"915","DOI":"10.1093\/oxfordjournals.molbev.a026372","volume":"17","author":"S Boissinot","year":"2000","unstructured":"Boissinot S, Chevret P, Furano AV (2000) L1 (LINE-1) retrotransposon evolution and amplification in recent human history. Mol Biol Evol 17:915\u2013928","journal-title":"Mol Biol Evol"},{"key":"1321_CR12","doi-asserted-by":"crossref","first-page":"1221","DOI":"10.1101\/gr.2326704","volume":"14","author":"S Boissinot","year":"2004","unstructured":"Boissinot S, Entezam A, Young L, Munson PJ, Furano AV (2004) The insertional history of an active family of L1 retrotransposons in humans. Genome Res 14:1221\u20131231","journal-title":"Genome Res"},{"key":"1321_CR13","doi-asserted-by":"crossref","first-page":"327","DOI":"10.1086\/341722","volume":"71","author":"B Brouha","year":"2002","unstructured":"Brouha B, Meischl C, Ostertag E, de Boer M, Zhang Y, Neijens H, Roos D, Kazazian HH Jr (2002) Evidence consistent with human L1 retrotransposition in maternal meiosis I. Am J Hum Genet 71:327\u2013336","journal-title":"Am J Hum Genet"},{"key":"1321_CR14","doi-asserted-by":"crossref","first-page":"5280","DOI":"10.1073\/pnas.0831042100","volume":"100","author":"B Brouha","year":"2003","unstructured":"Brouha B, Schustak J, Badge RM, Lutz-Prigge S, Farley AH, Moran JV, Kazazian HH Jr (2003) Hot L1s account for the bulk of retrotransposition in the human population. Proc Natl Acad Sci USA 100:5280\u20135285","journal-title":"Proc Natl Acad Sci USA"},{"key":"1321_CR15","doi-asserted-by":"crossref","first-page":"167","DOI":"10.1186\/1479-7364-1-3-167","volume":"1","author":"AB Carter","year":"2004","unstructured":"Carter AB, Salem AH, Hedges DJ, Keegan CN, Kimball B, Walker JA, Watkins WS, Jorde LB, Batzer MA (2004) Genome-wide analysis of the human Alu Yb-lineage. Hum Genomics 1:167\u2013178","journal-title":"Hum Genomics"},{"key":"1321_CR16","doi-asserted-by":"crossref","first-page":"207","DOI":"10.1002\/humu.20133","volume":"25","author":"JM Chen","year":"2005","unstructured":"Chen JM, Chuzhanova N, Stenson PD, Ferec C, Cooper DN (2005) Meta-analysis of gross insertions causing human genetic disease: novel mutational mechanisms and the role of replication slippage. Hum Mutat 25:207\u2013221","journal-title":"Hum Mutat"},{"key":"1321_CR17","doi-asserted-by":"crossref","first-page":"480","DOI":"10.1007\/s00439-003-0991-8","volume":"113","author":"F Claverie-Martin","year":"2003","unstructured":"Claverie-Martin F, Gonzalez-Acosta H, Flores C, Anton-Gamero M, Garcia-Nieto V (2003) De novo insertion of an Alu sequence in the coding region of the CLCN5 gene results in Dent\u2019s disease. Hum Genet 113:480\u2013485","journal-title":"Hum Genet"},{"key":"1321_CR18","doi-asserted-by":"crossref","first-page":"324","DOI":"10.1002\/humu.9321","volume":"25","author":"ME Conley","year":"2005","unstructured":"Conley ME, Partain JD, Norland SM, Shurtleff SA, Kazazian HH Jr (2005) Two independent retrotransposon insertions at the same site within the coding region of BTK. Hum Mutat 25:324\u2013325","journal-title":"Hum Mutat"},{"key":"1321_CR19","doi-asserted-by":"crossref","first-page":"464","DOI":"10.1016\/j.tig.2004.07.012","volume":"20","author":"R Cordaux","year":"2004","unstructured":"Cordaux R, Hedges DJ, Batzer MA (2004) Retrotransposition of Alu elements: how many sources? Trends Genet 20:464\u2013467","journal-title":"Trends Genet"},{"key":"1321_CR20","doi-asserted-by":"crossref","first-page":"18081","DOI":"10.1021\/bi981858s","volume":"37","author":"GJ Cost","year":"1998","unstructured":"Cost GJ, Boeke JD (1998) Targeting of human retrotransposon integration is directed by the specificity of the L1 endonuclease for regions of unusual DNA structure. Biochemistry 37:18081\u201318093","journal-title":"Biochemistry"},{"key":"1321_CR21","doi-asserted-by":"crossref","first-page":"5899","DOI":"10.1093\/emboj\/cdf592","volume":"21","author":"GJ Cost","year":"2002","unstructured":"Cost GJ, Feng Q, Jacquier A, Boeke JD (2002) Human L1 element target-primed reverse transcription in vitro. EMBO J 21:5899\u20135910","journal-title":"EMBO J"},{"key":"1321_CR22","doi-asserted-by":"crossref","first-page":"1293","DOI":"10.1126\/science.1057284","volume":"291","author":"A Courseaux","year":"2001","unstructured":"Courseaux A, Nahon JL (2001) Birth of two chimeric genes in the Hominidae lineage. Science 291:1293\u20131297","journal-title":"Science"},{"key":"1321_CR23","doi-asserted-by":"crossref","first-page":"292","DOI":"10.1007\/PL00006387","volume":"47","author":"RJ DeBerardinis","year":"1988","unstructured":"DeBerardinis RJ, Kazazian HH Jr (1988) Full-length L1 elements have arisen recently in the same 1-kb region of the gorilla and human genomes. J Mol Evol 47:292\u2013301","journal-title":"J Mol Evol"},{"key":"1321_CR24","doi-asserted-by":"crossref","first-page":"1455","DOI":"10.1101\/gr.282402","volume":"12","author":"PL Deininger","year":"2002","unstructured":"Deininger PL, Batzer MA (2002) Mammalian retroelements. Genome Res 12:1455\u20131465","journal-title":"Genome Res"},{"key":"1321_CR25","doi-asserted-by":"crossref","first-page":"651","DOI":"10.1016\/j.gde.2003.10.013","volume":"13","author":"PL Deininger","year":"2003","unstructured":"Deininger PL, Moran JV, Batzer MA, Kazazian HH Jr (2003) Mobile elements and mammalian genome evolution. Curr Opin Genet Dev 13:651\u2013658","journal-title":"Curr Opin Genet Dev"},{"key":"1321_CR27","doi-asserted-by":"crossref","first-page":"41","DOI":"10.1038\/ng1223","volume":"35","author":"M Dewannieux","year":"2003","unstructured":"Dewannieux M, Esnault C, Heidmann T (2003) LINE-mediated retrotransposition of marked Alu sequences. Nat Genet 35:41\u201348","journal-title":"Nat Genet"},{"issue":"Suppl 1","key":"1321_CR28","first-page":"148a","volume":"88","author":"V Divoky","year":"1996","unstructured":"Divoky V, Indrak K, Mrug M, Brabec V, Huisman THJ, Prchal JT (1996) A novel mechanism of \u03b2 thalassemia: the insertion of L1 retrotransposable element into \u03b2 globin IVS II. Blood 88(Suppl 1):148a (abstract)","journal-title":"Blood"},{"key":"1321_CR29","doi-asserted-by":"crossref","first-page":"1805","DOI":"10.1126\/science.1662412","volume":"254","author":"BA Dombroski","year":"1991","unstructured":"Dombroski BA, Mathias SL, Nanthakumar E, Scott AF, Kazazian HH Jr (1991) Isolation of an active human transposable element. Science 254:1805\u20131808","journal-title":"Science"},{"key":"1321_CR30","doi-asserted-by":"crossref","first-page":"6513","DOI":"10.1073\/pnas.90.14.6513","volume":"90","author":"BA Dombroski","year":"1993","unstructured":"Dombroski BA, Scott AF, Kazazian HH Jr (1993) Two additional potential retrotransposons isolated from a human L1 subfamily that contains an active retrotransposable element. Proc Natl Acad Sci USA 90:6513\u20136517","journal-title":"Proc Natl Acad Sci USA"},{"key":"1321_CR31","doi-asserted-by":"crossref","first-page":"126","DOI":"10.1038\/ng897","volume":"31","author":"TH Eickbush","year":"2002","unstructured":"Eickbush TH (2002) Repair by retrotransposition. Nat Genet 31:126\u2013127","journal-title":"Nat Genet"},{"key":"1321_CR32","doi-asserted-by":"crossref","first-page":"1321","DOI":"10.1093\/hmg\/ddg138","volume":"12","author":"Y Ejima","year":"2003","unstructured":"Ejima Y, Yang L (2003) Trans mobilization of genomic DNA as a mechanism for retrotransposon-mediated exon shuffling. Hum Mol Genet 12:1321\u20131328","journal-title":"Hum Mol Genet"},{"key":"1321_CR33","doi-asserted-by":"crossref","first-page":"363","DOI":"10.1038\/74184","volume":"24","author":"C Esnault","year":"2000","unstructured":"Esnault C, Maestre J, Heidmann T (2000) Human LINE retrotransposons generate processed pseudogenes. Nat Genet 24:363\u2013367","journal-title":"Nat Genet"},{"key":"1321_CR34","doi-asserted-by":"crossref","first-page":"502","DOI":"10.1093\/nar\/gkh202","volume":"32","author":"AH Farley","year":"2004","unstructured":"Farley AH, Luning Prak ET, Kazazian HH Jr (2004) More active human L1 retrotransposons produce longer insertions. Nucleic Acids Res 32:502\u2013510","journal-title":"Nucleic Acids Res"},{"key":"1321_CR35","doi-asserted-by":"crossref","first-page":"905","DOI":"10.1016\/S0092-8674(00)81997-2","volume":"87","author":"Q Feng","year":"1996","unstructured":"Feng Q, Moran JV, Kazazian HH Jr, Boeke JD (1996) Human L1 retrotransposon encodes a conserved endonuclease required for retrotransposition. Cell 87:905\u2013916","journal-title":"Cell"},{"key":"1321_CR36","doi-asserted-by":"crossref","first-page":"348","DOI":"10.1007\/s00439-003-0986-5","volume":"113","author":"A Ganguly","year":"2003","unstructured":"Ganguly A, Dunbar T, Chen P, Godmilow L, Ganguly T (2003) Exon skipping caused by an intronic insertion of a young Alu Yb9 element leads to severe hemophilia A. Hum Genet 113:348\u2013352","journal-title":"Hum Genet"},{"key":"1321_CR37","doi-asserted-by":"crossref","first-page":"315","DOI":"10.1016\/S0092-8674(02)00828-0","volume":"110","author":"N Gilbert","year":"2002","unstructured":"Gilbert N, Lutz-Prigge S, Moran JV (2002) Genomic deletions created upon LINE-1 retrotransposition. Cell 110:315\u2013325","journal-title":"Cell"},{"key":"1321_CR38","doi-asserted-by":"crossref","first-page":"653","DOI":"10.1093\/hmg\/9.4.653","volume":"9","author":"JL Goodier","year":"2000","unstructured":"Goodier JL, Ostertag EM, Kazazian HH Jr (2000) Transduction of 3\u2019-flanking sequences is common in L1 retrotransposition. Hum Mol Genet 9:653\u2013657","journal-title":"Hum Mol Genet"},{"key":"1321_CR39","doi-asserted-by":"crossref","first-page":"1753","DOI":"10.1002\/j.1460-2075.1984.tb02042.x","volume":"3","author":"G Grimaldi","year":"1984","unstructured":"Grimaldi G, Skowronski J, Singer MF (1984) Defining the beginning and end of KpnI family segments. EMBO J 3:1753\u20131759","journal-title":"EMBO J"},{"key":"1321_CR40","doi-asserted-by":"crossref","first-page":"219","DOI":"10.1038\/ng1259","volume":"35","author":"CR Hagan","year":"2003","unstructured":"Hagan CR, Sheffield RF, Rudin CM (2003) Human Alu element retrotransposition induced by genotoxic stress. Nat Genet 35:219\u2013220","journal-title":"Nat Genet"},{"key":"1321_CR41","doi-asserted-by":"crossref","first-page":"97","DOI":"10.1159\/000022852","volume":"49","author":"KC Halling","year":"1999","unstructured":"Halling KC, Lazzaro CR, Honchel R, Bufill JA, Powell SM, Arndt CA, Lindor NM (1999) Hereditary desmoid disease in a family with a germline Alu I repeat mutation of the APC gene. Hum Hered 49:97\u2013102","journal-title":"Hum Hered"},{"key":"1321_CR42","doi-asserted-by":"crossref","first-page":"268","DOI":"10.1038\/nature02536","volume":"429","author":"JS Han","year":"2004","unstructured":"Han JS, Szak ST, Boeke JD (2004) Transcriptional disruption by the L1 retrotransposon and implications for mammalian transcriptomes. Nature 429:268\u2013274","journal-title":"Nature"},{"key":"1321_CR43","doi-asserted-by":"crossref","first-page":"643","DOI":"10.1172\/JCI117380","volume":"94","author":"H Hassoun","year":"1994","unstructured":"Hassoun H, Coetzer TL, Vassiliadis JN, Sahr KE, Maalouf GJ, Saad ST, Catanzariti L, Palek J (1994) A novel mobile element inserted in the alpha spectrin gene: spectrin dayton. A truncated alpha spectrin associated with hereditary elliptocytosis. J Clin Invest 94:643\u2013648","journal-title":"J Clin Invest"},{"key":"1321_CR26","doi-asserted-by":"crossref","first-page":"217","DOI":"10.1038\/13848","volume":"23","author":"AI den Hollander","year":"1999","unstructured":"den Hollander AI, ten Brink JB, de Kok YJ, van Soest S, van den Born LI, van Driel MA, van de Pol DJ, Payne AM, Bhattacharya SS, Kellner U, Hoyng CB, Westerveld A, Brunner HG, Bleeker-Wagemakers EM, Deutman AF, Heckenlively JR, Cremers FP, Bergen AA (1999) Mutations in a human homologue of Drosophila crumbs cause retinitis pigmentosa (RP12). Nat Genet 23:217\u2013221","journal-title":"Nat Genet"},{"key":"1321_CR44","doi-asserted-by":"crossref","first-page":"143","DOI":"10.1038\/ng0694-143","volume":"7","author":"SE Holmes","year":"1994","unstructured":"Holmes SE, Dombroski BA, Krebs CM, Boehm CD, Kazazian HH Jr (1994) A new retrotransposable human L1 element from the LRE2 locus on chromosome 1q produces a chimaeric insertion. Nat Genet 7:143\u2013148","journal-title":"Nat Genet"},{"key":"1321_CR45","doi-asserted-by":"crossref","first-page":"268","DOI":"10.1007\/s00439-003-0970-0","volume":"113","author":"JA Hurk van den","year":"2003","unstructured":"van den Hurk JA, van de Pol DJ, Wissinger B, van Driel MA, Hoefsloot LH, de Wijs IJ, van den Born LI, Heckenlively JR, Brunner HG, Zrenner E, Ropers HH, Cremers FP (2003) Novel types of mutation in the choroideremia (CHM) gene: a full-length L1 insertion and an intronic mutation activating a cryptic exon. Hum Genet 113:268\u2013275","journal-title":"Hum Genet"},{"key":"1321_CR46","doi-asserted-by":"crossref","first-page":"387","DOI":"10.1136\/jmg.2003.016154","volume":"41","author":"N Ishihara","year":"2004","unstructured":"Ishihara N, Yamada K, Yamada Y, Miura K, Kato J, Kuwabara N, Hara Y, Kobayashi Y, Hoshino K, Nomura Y, Mimaki M, Ohya K, Matsushima M, Nitta H, Tanaka K, Segawa M, Ohki T, Ezoe T, Kumagai T, Onuma A, Kuroda T, Yoneda M, Yamanaka T, Saeki M, Segawa M, Saji T, Nagaya M, Wakamatsu N (2004) Clinical and molecular analysis of Mowat-Wilson syndrome associated with ZFHX1B mutations and deletions at 2q22-q24.1. J Med Genet 41:387\u2013393","journal-title":"J Med Genet"},{"key":"1321_CR47","doi-asserted-by":"crossref","first-page":"435","DOI":"10.1093\/hmg\/4.3.435","volume":"4","author":"A Jalanko","year":"1995","unstructured":"Jalanko A, Manninen T, Peltonen L (1995) Deletion of the C-terminal end of aspartylglucosaminidase resulting in a lysosomal accumulation disease: evidence for a unique genomic rearrangement. Hum Mol Genet 4:435\u2013441","journal-title":"Hum Mol Genet"},{"key":"1321_CR48","first-page":"880","volume":"56","author":"N Janicic","year":"1995","unstructured":"Janicic N, Pausova Z, Cole DE, Hendy GN (1995) Insertion of an Alu sequence in the Ca2+ -sensing receptor gene in familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. Am J Hum Genet 56:880\u2013886","journal-title":"Am J Hum Genet"},{"key":"1321_CR49","doi-asserted-by":"crossref","first-page":"1872","DOI":"10.1073\/pnas.94.5.1872","volume":"94","author":"J Jurka","year":"1997","unstructured":"Jurka J (1997) Sequence patterns indicate an enzymatic involvement in integration of mammalian retroposons. Proc Natl Acad Sci USA 94:1872\u20131877","journal-title":"Proc Natl Acad Sci USA"},{"key":"1321_CR50","doi-asserted-by":"crossref","first-page":"119","DOI":"10.1016\/S0097-8485(96)80013-1","volume":"20","author":"J Jurka","year":"1996","unstructured":"Jurka J, Klonowski P, Dagman V, Pelton P (1996) CENSOR\u2013a program for identification and elimination of repetitive elements from DNA sequences. Comput Chem 20:119\u2013122","journal-title":"Comput Chem"},{"key":"1321_CR51","doi-asserted-by":"crossref","first-page":"519","DOI":"10.1006\/tpbi.2002.1602","volume":"61","author":"J Jurka","year":"2002","unstructured":"Jurka J, Krnjajic M, Kapitonov VV, Stenger JE, Kokhanyy O (2002) Active Alu elements are passed primarily through paternal germlines. Theor Popul Biol 61:519\u2013530","journal-title":"Theor Popul Biol"},{"key":"1321_CR52","doi-asserted-by":"crossref","first-page":"1268","DOI":"10.1073\/pnas.0308084100","volume":"101","author":"J Jurka","year":"2004","unstructured":"Jurka J, Kohany O, Pavlicek A, Kapitonov VV, Jurka MV (2004) Duplication, coclustering, and selection of human Alu retrotransposons. Proc Natl Acad Sci USA 101:1268\u20131272","journal-title":"Proc Natl Acad Sci USA"},{"key":"1321_CR53","doi-asserted-by":"crossref","first-page":"59","DOI":"10.1007\/BF00163212","volume":"42","author":"V Kapitonov","year":"1996","unstructured":"Kapitonov V, Jurka J (1996) The age of Alu subfamilies. J Mol Evol 42:59\u201365","journal-title":"J Mol Evol"},{"key":"1321_CR54","doi-asserted-by":"crossref","first-page":"1626","DOI":"10.1126\/science.1089670","volume":"303","author":"HH Kazazian Jr","year":"2004","unstructured":"Kazazian HH Jr (2004) Mobile elements: drivers of genome evolution. Science 303:1626\u20131632","journal-title":"Science"},{"key":"1321_CR55","doi-asserted-by":"crossref","first-page":"277","DOI":"10.1016\/S0092-8674(02)00868-1","volume":"110","author":"HH Kazazian Jr","year":"2002","unstructured":"Kazazian HH Jr, Goodier JL (2002) LINE drive. retrotransposition and genome instability. Cell 110:277\u2013280","journal-title":"Cell"},{"key":"1321_CR56","doi-asserted-by":"crossref","first-page":"164","DOI":"10.1038\/332164a0","volume":"332","author":"HH Kazazian Jr","year":"1988","unstructured":"Kazazian HH Jr, Wong C, Youssoufian H, Scott AF, Phillips DG, Antonarakis SE (1988) Haemophilia A resulting from de novo insertion of L1 sequences represents a novel mechanism for mutation in man. Nature 332:164\u2013166","journal-title":"Nature"},{"key":"1321_CR57","doi-asserted-by":"crossref","first-page":"1557","DOI":"10.1093\/hmg\/8.8.1557","volume":"8","author":"ML Kimberland","year":"1999","unstructured":"Kimberland ML, Divoky V, Prchal J, Schwahn U, Berger W, Kazazian HH Jr (1999) Full-length human L1 insertions retain the capacity for high frequency retrotransposition in cultured cells. Hum Mol Genet 8:1557\u20131560","journal-title":"Hum Mol Genet"},{"key":"1321_CR58","doi-asserted-by":"crossref","first-page":"388","DOI":"10.1038\/28653","volume":"394","author":"K Kobayashi","year":"1998","unstructured":"Kobayashi K, Nakahori Y, Miyake M, Matsumura K, Kondo-Iida E, Nomura Y, Segawa M, Yoshioka M, Saito K, Osawa M, Hamano K, Sakakihara Y, Nonaka I, Nakagome Y, Kanazawa I, Nakamura Y, Tokunaga K, Toda T (1998) An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy. Nature 394:388\u2013392","journal-title":"Nature"},{"key":"1321_CR59","doi-asserted-by":"crossref","first-page":"8112","DOI":"10.1074\/jbc.M210487200","volume":"278","author":"VO Kolosha","year":"2003","unstructured":"Kolosha VO, Martin SL (2003) High-affinity, non-sequence-specific RNA binding by the open reading frame 1 (ORF1) protein from long interspersed nuclear element 1 (LINE-1). J Biol Chem 278:8112\u20138117","journal-title":"J Biol Chem"},{"key":"1321_CR60","doi-asserted-by":"crossref","first-page":"2303","DOI":"10.1093\/hmg\/8.12.2303","volume":"8","author":"E Kondo-Iida","year":"1999","unstructured":"Kondo-Iida E, Kobayashi K, Watanabe M, Sasaki J, Kumagai T, Koide H, Saito K, Osawa M, Nakamura Y, Toda T (1999) Novel mutations and genotype-phenotype relationships in 107 families with Fukuyama-type congenital muscular dystrophy (FCMD). Hum Mol Genet 8:2303\u20132309","journal-title":"Hum Mol Genet"},{"key":"1321_CR61","doi-asserted-by":"crossref","first-page":"391","DOI":"10.1016\/0092-8674(88)90159-6","volume":"53","author":"JR Korenberg","year":"1988","unstructured":"Korenberg JR, Rykowski MC (1988) Human genome organization: Alu, lines, and the molecular structure of metaphase chromosome bands. Cell 53:391\u2013400","journal-title":"Cell"},{"key":"1321_CR62","doi-asserted-by":"crossref","first-page":"526","DOI":"10.1002\/humu.10072","volume":"19","author":"K Kutsche","year":"2002","unstructured":"Kutsche K, Ressler B, Katzera HG, Orth U, Gillessen-Kaesbach G, Morlot S, Schwinger E, Gal A (2002) Characterization of breakpoint sequences of five rearrangements in L1CAM and ABCD1 (ALD) genes. Hum Mutat 19:526\u2013535","journal-title":"Hum Mutat"},{"key":"1321_CR63","doi-asserted-by":"crossref","first-page":"860","DOI":"10.1038\/35057062","volume":"409","author":"Lander","year":"2001","unstructured":"Lander ES, Linton LM, Birren B, Nusbaum C, Zody MC, Baldwin J, Devon K, Dewar K, Doyle M, FitzHugh W, Funke R, Gage D, Harris K, Heaford A, Howland J, Kann L, Lehoczky J, LeVine R, McEwan P, McKernan K, Meldrim J, Mesirov JP, Miranda C, Morris W, Naylor J, Raymond C, Rosetti M, Santos R, Sheridan A, Sougnez C, Stange-Thomann N, Stojanovic N, Subramanian A, Wyman D, Rogers J, Sulston J, Ainscough R, Beck S, Bentley D, Burton J, Clee C, Carter N, Coulson A, Deadman R, Deloukas P, Dunham A, Dunham I, Durbin R, French L, Grafham D, Gregory S, Hubbard T, Humphray S, Hunt A, Jones M, Lloyd C, McMurray A, Matthews L, Mercer S, Milne S, Mullikin JC, Mungall A, Plumb R, Ross M, Shownkeen R, Sims S, Waterston RH, Wilson RK, Hillier LW, McPherson JD, Marra MA, Mardis ER, Fulton LA, Chinwalla AT, Pepin KH, Gish WR, Chissoe SL, Wendl MC, Delehaunty KD, Miner TL, Delehaunty A, Kramer JB, Cook LL, Fulton RS, Johnson DL, Minx PJ, Clifton SW, Hawkins T, Branscomb E, Predki P, Richardson P, Wenning S, Slezak T, Doggett N, Cheng JF, Olsen A, Lucas S, Elkin C, Uberbacher E, Frazier M, Gibbs RA, Muzny DM, Scherer SE, Bouck JB, Sodergren EJ, Worley KC, Rives CM, Gorrell JH, Metzker ML, Naylor SL, Kucherlapati RS, Nelson DL, Weinstock GM, Sakaki Y, Fujiyama A, Hattori M, Yada T, Toyoda A, Itoh T, Kawagoe C, Watanabe H, Totoki Y, Taylor T, Weissenbach J, Heilig R, Saurin W, Artiguenave F, Brottier P, Bruls T, Pelletier E, Robert C, Wincker P, Smith DR, Doucette-Stamm L, Rubenfield M, Weinstock K, Lee HM, Dubois J, Rosenthal A, Platzer M, Nyakatura G, Taudien S, Rump A, Yang H, Yu J, Wang J, Huang G, Gu J, Hood L, Rowen L, Madan A, Qin S, Davis RW, Federspiel NA, Abola AP, Proctor MJ, Myers RM, Schmutz J, Dickson M, Grimwood J, Cox DR, Olson MV, Kaul R, Raymond C, Shimizu N, Kawasaki K, Minoshima S, Evans GA, Athanasiou M, Schultz R, Roe BA, Chen F, Pan H, Ramser J, Lehrach H, Reinhardt R, McCombie WR, de la Bastide M, Dedhia N, Blocker H, Hornischer K, Nordsiek G, Agarwala R, Aravind L, Bailey JA, Bateman A, Batzoglou S, Birney E, Bork P, Brown DG, Burge CB, Cerutti L, Chen HC, Church D, Clamp M, Copley RR, Doerks T, Eddy SR, Eichler EE, Furey TS, Galagan J, Gilbert JG, Harmon C, Hayashizaki Y, Haussler D, Hermjakob H, Hokamp K, Jang W, Johnson LS, Jones TA, Kasif S, Kaspryzk A, Kennedy S, Kent WJ, Kitts P, Koonin EV, Korf I, Kulp D, Lancet D, Lowe TM, McLysaght A, Mikkelsen T, Moran JV, Mulder N, Pollara VJ, Ponting CP, Schuler G, Schultz J, Slater G, Smit AF, Stupka E, Szustakowski J, Thierry-Mieg D, Thierry-Mieg J, Wagner L, Wallis J, Wheeler R, Williams A, Wolf YI, Wolfe KH, Yang SP, Yeh RF, Collins F, Guyer MS, Peterson J, Felsenfeld A, Wetterstrand KA, Patrinos A, Morgan MJ, Szustakowki J, de Jong P, Catanese JJ, Osoegawa K, Shizuya H, Choi S, Chen YJ; International Human Genome Sequencing Consortium (2001) Initial sequencing and analysis of the human genome. Nature 409:860\u2013921","journal-title":"Nature"},{"issue":"Supp1","key":"1321_CR64","first-page":"S81","volume":"34","author":"T Lester","year":"1997","unstructured":"Lester T, McMahon C, Van Regemorter N, Jones A, Genet S (1997) X-linked immunodeficiency caused by insertion of Alu repeat sequences. J Med Genet 34(Supp1):S81 (abstract)","journal-title":"J Med Genet"},{"key":"1321_CR65","doi-asserted-by":"crossref","first-page":"511","DOI":"10.1002\/humu.1134","volume":"17","author":"X Li","year":"2001","unstructured":"Li X, Scaringe WA, Hill KA, Roberts S, Mengos A, Careri D, Pinto MT, Kasper CK, Sommer SS (2001) Frequency of recent retrotransposition events in the human factor IX gene. Hum Mutat 17:511\u2013519","journal-title":"Hum Mutat"},{"key":"1321_CR66","doi-asserted-by":"crossref","first-page":"595","DOI":"10.1016\/0092-8674(93)90078-5","volume":"72","author":"DD Luan","year":"1993","unstructured":"Luan DD, Korman MH, Jakubczak JL, Eickbush TH (1993) Reverse transcription of R2Bm RNA is primed by a nick at the chromosomal target site: a mechanism for non-LTR retrotransposition. Cell 72:595\u2013605","journal-title":"Cell"},{"key":"1321_CR67","doi-asserted-by":"crossref","first-page":"6559","DOI":"10.1093\/nar\/13.18.6559","volume":"13","author":"DL Mager","year":"1985","unstructured":"Mager DL, Henthorn PS, Smithies O (1985) A Chinese G\u03b3+\u00a0(A\u03b3\u03b4\u03b2)\u00b0 thalassemia deletion: comparison to other deletions in the human \u03b2-globin gene cluster and sequence analysis of the breakpoints. Nucleic Acids Res 13:6559\u20136575","journal-title":"Nucleic Acids Res"},{"key":"1321_CR68","doi-asserted-by":"crossref","first-page":"491","DOI":"10.1046\/j.1399-0004.2003.00166.x","volume":"64","author":"I Martinez-Garay","year":"2003","unstructured":"Martinez-Garay I, Ballesta MJ, Oltra S, Orellana C, Palomeque A, Molto MD, Prieto F, Martinez F (2003) Intronic L1 insertion and F268S, novel mutations in RPS6KA3 (RSK2) causing Coffin-Lowry syndrome. Clin Genet 64:491\u2013496","journal-title":"Clin Genet"},{"key":"1321_CR69","doi-asserted-by":"crossref","first-page":"1808","DOI":"10.1126\/science.1722352","volume":"254","author":"SL Mathias","year":"1991","unstructured":"Mathias SL, Scott AF, Kazazian HH Jr, Boeke JD, Gabriel A (1991) Reverse transcriptase encoded by a human transposable element. Science 254:1808\u20131810","journal-title":"Science"},{"key":"1321_CR70","doi-asserted-by":"crossref","first-page":"697","DOI":"10.1038\/sj.ejhg.5200523","volume":"8","author":"C Meischl","year":"2000","unstructured":"Meischl C, Boer M, Ahlin A, Roos D (2000) A new exon created by intronic insertion of a rearranged LINE-1 element as the cause of chronic granulomatous disease. Eur J Hum Genet 8:697\u2013703","journal-title":"Eur J Hum Genet"},{"key":"1321_CR71","first-page":"643","volume":"52","author":"Y Miki","year":"1992","unstructured":"Miki Y, Nishisho I, Horii A, Miyoshi Y, Utsunomiya J, Kinzler KW, Vogelstein B, Nakamura Y (1992) Disruption of the APC gene by a retrotransposal insertion of L1 sequence in a colon cancer. Cancer Res 52:643\u2013645","journal-title":"Cancer Res"},{"key":"1321_CR72","doi-asserted-by":"crossref","first-page":"245","DOI":"10.1038\/ng0696-245","volume":"13","author":"Y Miki","year":"1996","unstructured":"Miki Y, Katagiri T, Kasumi F, Yoshimoto T, Nakamura Y (1996) Mutation analysis in the BRCA2 gene in primary breast cancers. Nat Genet 13:245\u2013247","journal-title":"Nat Genet"},{"key":"1321_CR73","doi-asserted-by":"crossref","first-page":"836","DOI":"10.1128\/9781555817954.ch35","volume-title":"Mobile DNA II","author":"JV Moran","year":"2002","unstructured":"Moran JV, Gilbert N (2002) Mammalian LINE-1 retrotransposons and related elements. In: Craig N, Craggie R, Gellert M, Lambowitz A (eds) Mobile DNA II. ASM, Washington D.C., pp 836\u2013869"},{"key":"1321_CR74","doi-asserted-by":"crossref","first-page":"917","DOI":"10.1016\/S0092-8674(00)81998-4","volume":"87","author":"JV Moran","year":"1996","unstructured":"Moran JV, Holmes SE, Naas TP, DeBerardinis RJ, Boeke JD, Kazazian HH Jr (1996) High frequency retrotransposition in cultured mammalian cells. Cell 87:917\u2013927","journal-title":"Cell"},{"key":"1321_CR75","doi-asserted-by":"crossref","first-page":"1530","DOI":"10.1126\/science.283.5407.1530","volume":"283","author":"JV Moran","year":"1999","unstructured":"Moran JV, DeBerardinis RJ, Kazazian HH Jr (1999) Exon shuffling by L1 retrotransposition. Science 283:1530\u20131534","journal-title":"Science"},{"key":"1321_CR76","doi-asserted-by":"crossref","first-page":"159","DOI":"10.1038\/ng898","volume":"31","author":"TA Morrish","year":"2002","unstructured":"Morrish TA, Gilbert N, Myers JS, Vincent BJ, Stamato TD, Taccioli GE, Batzer MA, Moran JV (2002) DNA repair mediated by endonuclease-independent LINE-1 retrotransposition. Nat Genet 31:159\u2013165","journal-title":"Nat Genet"},{"key":"1321_CR77","doi-asserted-by":"crossref","first-page":"259","DOI":"10.1111\/j.1365-2516.2004.00895.x","volume":"10","author":"S Mukherjee","year":"2004","unstructured":"Mukherjee S, Mukhopadhyay A, Banerjee D, Chandak GR, Ray K (2004) Molecular pathology of haemophilia B: identification of five novel mutations including a LINE 1 insertion in Indian patients. Haemophilia 10:259\u2013263","journal-title":"Haemophilia"},{"key":"1321_CR78","doi-asserted-by":"crossref","first-page":"11315","DOI":"10.1073\/pnas.88.24.11315","volume":"88","author":"K Muratani","year":"1991","unstructured":"Muratani K, Hada T, Yamamoto Y, Kaneko T, Shigeto Y, Ohue T, Furuyama J, Higashino K (1991) Inactivation of the cholinesterase gene by Alu insertion: possible mechanism for human gene transposition. Proc Natl Acad Sci USA 88:11315\u201311319","journal-title":"Proc Natl Acad Sci USA"},{"key":"1321_CR79","doi-asserted-by":"crossref","first-page":"431","DOI":"10.1002\/(SICI)1098-1004(1999)13:6<431::AID-HUMU2>3.0.CO;2-Y","volume":"13","author":"S Mustajoki","year":"1999","unstructured":"Mustajoki S, Ahola H, Mustajoki P, Kauppinen R (1999) Insertion of Alu element responsible for acute intermittent porphyria. Hum Mutat 13:431\u2013438","journal-title":"Hum Mutat"},{"key":"1321_CR80","doi-asserted-by":"crossref","first-page":"312","DOI":"10.1086\/341718","volume":"71","author":"JS Myers","year":"2002","unstructured":"Myers JS, Vincent BJ, Udall H, Watkins WS, Morrish TA, Kilroy GE, Swergold GD, Henke J, Henke L, Moran JV, Jorde LB, Batzer MA (2002) A comprehensive analysis of recently integrated human Ta L1 elements. Am J Hum Genet 71:312\u2013326","journal-title":"Am J Hum Genet"},{"key":"1321_CR81","doi-asserted-by":"crossref","first-page":"1862","DOI":"10.1172\/JCI116402","volume":"91","author":"N Narita","year":"1993","unstructured":"Narita N, Nishio H, Kitoh Y, Ishikawa Y, Ishikawa Y, Minami R, Nakamura H, Matsuo M (1993) Insertion of a 5\u2019 truncated L1 element into the 3\u2019 end of exon 44 of the dystrophin gene resulted in skipping of the exon during splicing in a case of Duchenne muscular dystrophy. J Clin Invest 91:1862\u20131867","journal-title":"J Clin Invest"},{"key":"1321_CR82","doi-asserted-by":"crossref","first-page":"R74","DOI":"10.1186\/gb-2003-4-11-r74","volume":"4","author":"K Ohshima","year":"2003","unstructured":"Ohshima K, Hattori M, Yada T, Gojobori T, Sakaki Y, Okada N (2003) Whole-genome screening indicates a possible burst of formation of processed pseudogenes and Alu repeats by particular L1 subfamilies in ancestral primates. Genome Biol 4:R74","journal-title":"Genome Biol"},{"key":"1321_CR83","doi-asserted-by":"crossref","first-page":"446","DOI":"10.1086\/302245","volume":"64","author":"M Oldridge","year":"1999","unstructured":"Oldridge M, Zackai EH, McDonald-McGinn DM, Iseki S, Morriss-Kay GM, Twigg SR, Johnson D, Wall SA, Jiang W, Theda C, Jabs EW, Wilkie AO (1999) De novo alu-element insertions in FGFR2 identify a distinct pathological basis for Apert syndrome. Am J Hum Genet 64:446\u2013461","journal-title":"Am J Hum Genet"},{"key":"1321_CR84","doi-asserted-by":"crossref","first-page":"501","DOI":"10.1146\/annurev.genet.35.102401.091032","volume":"35","author":"EM Ostertag","year":"2001a","unstructured":"Ostertag EM, Kazazian HH Jr (2001a) Biology of mammalian L1 retrotransposons. Annu Rev Genet 35:501\u2013538","journal-title":"Annu Rev Genet"},{"key":"1321_CR85","doi-asserted-by":"crossref","first-page":"2059","DOI":"10.1101\/gr.205701","volume":"11","author":"EM Ostertag","year":"2001b","unstructured":"Ostertag EM, Kazazian HH Jr (2001b) Twin priming: a proposed mechanism for the creation of inversions in L1 retrotransposition. Genome Res 11:2059\u20132065","journal-title":"Genome Res"},{"key":"1321_CR86","doi-asserted-by":"crossref","first-page":"1444","DOI":"10.1086\/380207","volume":"73","author":"EM Ostertag","year":"2003","unstructured":"Ostertag EM, Goodier JL, Zhang Y, Kazazian HH Jr (2003) SVA elements are nonautonomous retrotransposons that cause disease in humans. Am J Hum Genet 73:1444\u20131451","journal-title":"Am J Hum Genet"},{"key":"1321_CR87","doi-asserted-by":"crossref","first-page":"109","DOI":"10.1016\/j.jmb.2004.07.016","volume":"342","author":"AC Otieno","year":"2004","unstructured":"Otieno AC, Carter AB, Hedges DJ, Walker JA, Ray DA, Garber RK, Anders BA, Stoilova N, Laborde ME, Fowlkes JD, Huang CH, Perodeau B, Batzer MA (2004) Analysis of the human Alu Ya-lineage. J Mol Biol 342:109\u2013118","journal-title":"J Mol Biol"},{"key":"1321_CR88","doi-asserted-by":"crossref","first-page":"2050","DOI":"10.1101\/gr.194701","volume":"11","author":"I Ovchinnikov","year":"2001","unstructured":"Ovchinnikov I, Troxel AB, Swergold GD (2001) Genomic characterization of recent human LINE-1 insertions: evidence supporting random insertion. Genome Res 11:2050\u20132058","journal-title":"Genome Res"},{"key":"1321_CR89","doi-asserted-by":"crossref","first-page":"10522","DOI":"10.1073\/pnas.152346799","volume":"99","author":"I Ovchinnikov","year":"2002","unstructured":"Ovchinnikov I, Rubin A, Swergold GD (2002) Tracing the LINEs of human evolution. Proc Natl Acad Sci USA 99:10522\u201310527","journal-title":"Proc Natl Acad Sci USA"},{"key":"1321_CR90","doi-asserted-by":"crossref","first-page":"189","DOI":"10.1016\/S0378-1119(02)01047-8","volume":"300","author":"A Pavlicek","year":"2002","unstructured":"Pavlicek A, Paces J, Zika R, Hejnar J (2002) Length distribution of long interspersed nucleotide elements (LINEs) and processed pseudogenes of human endogenous retroviruses: implications for retrotransposition and pseudogene detection. Gene 300:189\u2013194","journal-title":"Gene"},{"key":"1321_CR91","doi-asserted-by":"crossref","first-page":"411","DOI":"10.1101\/gr.10.4.411","volume":"10","author":"OK Pickeral","year":"2000","unstructured":"Pickeral OK, Makalowski W, Boguski MS, Boeke JD (2000) Frequent human genomic DNA transduction driven by LINE-1 retrotransposition. Genome Res 10:411\u2013415","journal-title":"Genome Res"},{"key":"1321_CR92","doi-asserted-by":"crossref","first-page":"1184","DOI":"10.1093\/nar\/gkh280","volume":"32","author":"LR Read","year":"2004","unstructured":"Read LR, Raynard SJ, Ruksc A, Baker MD (2004) Gene repeat expansion and contraction by spontaneous intrachromosomal homologous recombination in mammalian cells. Nucleic Acids Res 32:1184\u20131196","journal-title":"Nucleic Acids Res"},{"key":"1321_CR93","doi-asserted-by":"crossref","first-page":"28","DOI":"10.1006\/clim.1998.4629","volume":"90","author":"J Rohrer","year":"1999","unstructured":"Rohrer J, Minegishi Y, Richter D, Eguiguren J, Conley ME (1999) Unusual mutations in Btk: an insertion, a duplication, an inversion, and four large deletions. Clin Immunol 90:28\u201337","journal-title":"Clin Immunol"},{"key":"1321_CR94","doi-asserted-by":"crossref","first-page":"1485","DOI":"10.1101\/gr.152300","volume":"10","author":"AM Roy","year":"2000","unstructured":"Roy AM, Carroll ML, Nguyen SV, Salem AH, Oldridge M, Wilkie AO, Batzer MA, Deininger PL (2000) Potential gene conversion and source genes for recently integrated Alu elements. Genome Res 10:1485\u20131495","journal-title":"Genome Res"},{"key":"1321_CR95","doi-asserted-by":"crossref","first-page":"279","DOI":"10.1093\/genetics\/159.1.279","volume":"159","author":"AM Roy-Engel","year":"2001","unstructured":"Roy-Engel AM, Carroll ML, Vogel E, Garber RK, Nguyen SV, Salem AH, Batzer MA, Deininger PL (2001) Alu insertion polymorphisms for the study of human genomic diversity. Genetics 159:279\u2013290","journal-title":"Genetics"},{"key":"1321_CR96","doi-asserted-by":"crossref","first-page":"1333","DOI":"10.1101\/gr.384802","volume":"12","author":"AM Roy-Engel","year":"2002","unstructured":"Roy-Engel AM, Salem AH, Oyeniran OO, Deininger L, Hedges DJ, Kilroy GE, Batzer MA, Deininger PL (2002) Active Alu element \u201cA-tails\u201d: size does matter. Genome Res 12:1333\u20131344","journal-title":"Genome Res"},{"key":"1321_CR97","doi-asserted-by":"crossref","first-page":"554","DOI":"10.1006\/geno.1997.4968","volume":"45","author":"R Rozmahel","year":"1997","unstructured":"Rozmahel R, Heng HH, Duncan AM, Shi XM, Rommens JM, Tsui LC (1997) Amplification of CFTR exon 9 sequences to multiple locations in the human genome. Genomics 45:554\u2013561","journal-title":"Genomics"},{"key":"1321_CR98","doi-asserted-by":"crossref","first-page":"1349","DOI":"10.1093\/molbev\/msg150","volume":"20","author":"AH Salem","year":"2003a","unstructured":"Salem AH, Kilroy GE, Watkins WS, Jorde LB, Batzer MA (2003a) Recently integrated Alu elements and human genomic diversity. Mol Biol Evol 20:1349\u20131361","journal-title":"Mol Biol Evol"},{"key":"1321_CR99","doi-asserted-by":"crossref","first-page":"1127","DOI":"10.1016\/S0022-2836(03)00032-9","volume":"326","author":"AH Salem","year":"2003b","unstructured":"Salem AH, Myers JS, Otieno AC, Watkins WS, Jorde LB, Batzer MA (2003b) LINE-1 preTa elements in the human genome. J Mol Biol 326:1127\u20131146","journal-title":"J Mol Biol"},{"key":"1321_CR100","doi-asserted-by":"crossref","first-page":"63","DOI":"10.1159\/000080803","volume":"108","author":"AH Salem","year":"2005","unstructured":"Salem AH, Ray DA, Batzer MA (2005) Identity by descent and DNA sequence variation of human SINE and LINE elements. Cytogenet Genome Res 108:63\u201372","journal-title":"Cytogenet Genome Res"},{"key":"1321_CR101","doi-asserted-by":"crossref","first-page":"37","DOI":"10.1038\/ng0597-37","volume":"16","author":"DM Sassaman","year":"1997","unstructured":"Sassaman DM, Dombroski BA, Moran JV, Kimberland ML, Naas TP, DeBerardinis RJ, Gabriel A, Swergold GD, Kazazian HH Jr (1997) Many human L1 elements are capable of retrotransposition. Nat Genet 16:37\u201343","journal-title":"Nat Genet"},{"key":"1321_CR102","doi-asserted-by":"crossref","first-page":"327","DOI":"10.1038\/1214","volume":"19","author":"U Schwahn","year":"1998","unstructured":"Schwahn U, Lenzner S, Dong J, Feil S, Hinzmann B, van Duijnhoven G, Kirschner R, Hemberger M, Bergen AA, Rosenberg T, Pinckers AJ, Fundele R, Rosenthal A, Cremers FP, Ropers HH, Berger W (1998) Positional cloning of the gene for X-linked retinitis pigmentosa 2. Nat Genet 19:327\u2013332","journal-title":"Nat Genet"},{"key":"1321_CR103","doi-asserted-by":"crossref","first-page":"113","DOI":"10.1016\/0888-7543(87)90003-6","volume":"1","author":"AF Scott","year":"1987","unstructured":"Scott AF, Schmeckpeper BJ, Abdelrazik M, Comey CT, O\u2019Hara B, Rossiter JP, Cooley T, Heath P, Smith KD, Margolet L (1987) Origin of the human L1 elements: proposed progenitor genes deduced from a consensus DNA sequence. Genomics 1:113\u2013125","journal-title":"Genomics"},{"key":"1321_CR104","doi-asserted-by":"crossref","first-page":"62","DOI":"10.1086\/302213","volume":"64","author":"Y Segal","year":"1999","unstructured":"Segal Y, Peissel B, Renieri A, de Marchi M, Ballabio A, Pei Y, Zhou J (1999) LINE-1 elements at the sites of molecular rearrangements in Alport syndrome-diffuse leiomyomatosis. Am J Hum Genet 64:62\u201369","journal-title":"Am J Hum Genet"},{"key":"1321_CR105","doi-asserted-by":"crossref","first-page":"1496","DOI":"10.1101\/gr.149400","volume":"10","author":"FM Sheen","year":"2000","unstructured":"Sheen FM, Sherry ST, Risch GM, Robichaux M, Nasidze I, Stoneking M, Batzer MA, Swergold GD (2000) Reading between the LINEs: human genomic variation induced by LINE-1 retrotransposition. Genome Res 10:1496\u20131508","journal-title":"Genome Res"},{"key":"1321_CR106","doi-asserted-by":"crossref","first-page":"1385","DOI":"10.1128\/MCB.8.4.1385","volume":"8","author":"J Skowronski","year":"1988","unstructured":"Skowronski J, Fanning TG, Singer MF (1988) Unit-length line-1 transcripts in human teratocarcinoma cells. Mol Cell Biol 8:1385\u20131397","journal-title":"Mol Cell Biol"},{"key":"1321_CR107","doi-asserted-by":"crossref","first-page":"401","DOI":"10.1006\/jmbi.1994.0095","volume":"246","author":"AF Smit","year":"1995","unstructured":"Smit AF, Toth G, Riggs AD, Jurka J (1995) Ancestral, mammalian-wide subfamilies of LINE-1 repetitive sequences. J Mol Biol 246:401\u2013417","journal-title":"J Mol Biol"},{"key":"1321_CR108","doi-asserted-by":"crossref","first-page":"1816","DOI":"10.1073\/pnas.80.7.1816","volume":"80","author":"P Soriano","year":"1983","unstructured":"Soriano P, Meunier-Rotival M, Bernardi G (1983) The distribution of interspersed repeats is nonuniform and conserved in the mouse and human genomes. Proc Natl Acad Sci USA 80:1816\u20131820","journal-title":"Proc Natl Acad Sci USA"},{"key":"1321_CR109","doi-asserted-by":"crossref","first-page":"577","DOI":"10.1002\/humu.10212","volume":"21","author":"PD Stenson","year":"2003","unstructured":"Stenson PD, Ball EV, Mort M, Phillips AD, Shiel JA, Thomas NS, Abeysinghe S, Krawczak M, Cooper DN (2003) Human Gene Mutation Database (HGMD): 2003 update. Hum Mutat 21:577\u2013581","journal-title":"Hum Mutat"},{"key":"1321_CR110","doi-asserted-by":"crossref","first-page":"1551","DOI":"10.1073\/pnas.87.4.1551","volume":"87","author":"D Stoppa-Lyonnet","year":"1990","unstructured":"Stoppa-Lyonnet D, Carter PE, Meo T, Tosi M (1990) Clusters of intragenic Alu repeats predispose the human C1 inhibitor locus to deleterious rearrangements. Proc Natl Acad Sci USA 87:1551\u20131555","journal-title":"Proc Natl Acad Sci USA"},{"key":"1321_CR111","doi-asserted-by":"crossref","first-page":"543","DOI":"10.1101\/gr.224102","volume":"12","author":"LZ Strichman-Almashanu","year":"2002","unstructured":"Strichman-Almashanu LZ, Lee RS, Onyango PO, Perlman E, Flam F, Frieman MB, Feinberg AP (2002) A genome-wide screen for normally methylated human CpG islands that can identify novel imprinted genes. Genome Res 12:543\u2013554","journal-title":"Genome Res"},{"key":"1321_CR112","doi-asserted-by":"crossref","first-page":"101","DOI":"10.1007\/s004390051016","volume":"106","author":"LK Su","year":"2000","unstructured":"Su LK, Steinbach G, Sawyer JC, Hindi M, Ward PA, Lynch PM (2000) Genomic rearrangements of the APC tumor-suppressor gene in familial adenomatous polyposis. Hum Genet 106:101\u2013107","journal-title":"Hum Genet"},{"key":"1321_CR113","doi-asserted-by":"crossref","first-page":"126","DOI":"10.1159\/000046602","volume":"106","author":"E Sukarova","year":"2001","unstructured":"Sukarova E, Dimovski AJ, Tchacarova P, Petkov GH, Efremov GD (2001) An Alu insert as the cause of a severe form of hemophilia A. Acta Haematol 106:126\u2013129","journal-title":"Acta Haematol"},{"key":"1321_CR114","doi-asserted-by":"crossref","first-page":"327","DOI":"10.1016\/S0092-8674(02)00839-5","volume":"110","author":"DE Symer","year":"2002","unstructured":"Symer DE, Connelly C, Szak ST, Caputo EM, Cost GJ, Parmigiani G, Boeke JD (2002) Human L1 retrotransposition is associated with genetic instability in vivo. Cell 110:327\u2013338","journal-title":"Cell"},{"key":"1321_CR115","doi-asserted-by":"crossref","first-page":"research0052","DOI":"10.1186\/gb-2002-3-10-research0052","volume":"3","author":"Szak","year":"2002","unstructured":"Szak ST, Pickeral OK, Makalowski W, Boguski MS, Landsman D, Boeke JD (2002) Molecular archeology of L1 insertions in the human genome. Genome Biol 3:research0052.1\u201318","journal-title":"Genome Biol"},{"issue":"Suppl 1","key":"1321_CR116","doi-asserted-by":"crossref","first-page":"S66","DOI":"10.1038\/sj.gene.6363864","volume":"3","author":"PJ Tighe","year":"2002","unstructured":"Tighe PJ, Stevens SE, Dempsey S, Le Deist F, Rieux-Laucat F, Edgar JD (2002) Inactivation of the Fas gene by Alu insertion: retrotransposition in an intron causing splicing variation and autoimmune lymphoproliferative syndrome. Genes Immunol 3(Suppl 1):S66\u2013S70","journal-title":"Genes Immunol"},{"key":"1321_CR117","doi-asserted-by":"crossref","first-page":"2559","DOI":"10.1101\/gr.1455503","volume":"13","author":"D Torrents","year":"2003","unstructured":"Torrents D, Suyama M, Zdobnov E, Bork P (2003) A genome-wide survey of human pseudogenes. Genome Res 13:2559\u20132567","journal-title":"Genome Res"},{"key":"1321_CR118","doi-asserted-by":"crossref","first-page":"253","DOI":"10.1146\/annurev.ge.19.120185.001345","volume":"19","author":"EF Vanin","year":"1985","unstructured":"Vanin EF (1985) Processed pseudogenes: characteristics and evolution. Annu Rev Genet 19:253\u2013272","journal-title":"Annu Rev Genet"},{"key":"1321_CR119","doi-asserted-by":"crossref","first-page":"196","DOI":"10.1093\/oxfordjournals.molbev.a025915","volume":"15","author":"A Viale","year":"1998","unstructured":"Viale A, Ortola C, Richard F, Vernier P, Presse F, Schilling S, Dutrillaux B, Nahon JL (1998) Emergence of a brain-expressed variant melanin-concentrating hormone gene during higher primate evolution: a gene \u201cin search of a function\u201d. Mol Biol Evol 15:196\u2013214","journal-title":"Mol Biol Evol"},{"key":"1321_CR120","doi-asserted-by":"crossref","first-page":"30","DOI":"10.1159\/000472385","volume":"1","author":"D Vidaud","year":"1993","unstructured":"Vidaud D, Vidaud M, Bahnak BR, Siguret V, Gispert Sanchez S, Laurian Y, Meyer D, Goossens M, Lavergne JM (1993) Haemophilia B due to a de novo insertion of a human-specific Alu subfamily member within the coding region of the factor IX gene. Eur J Hum Genet 1:30\u201336","journal-title":"Eur J Hum Genet"},{"key":"1321_CR121","doi-asserted-by":"crossref","first-page":"1338","DOI":"10.1093\/molbev\/msg146","volume":"20","author":"BJ Vincent","year":"2003","unstructured":"Vincent BJ, Myers JS, Ho HJ, Kilroy GE, Walker JA, Watkins WS, Jorde LB, Batzer MA (2003) Following the LINEs: an analysis of primate genomic variation at human-specific LINE-1 insertion sites. Mol Biol Evol 20:1338\u20131348","journal-title":"Mol Biol Evol"},{"key":"1321_CR122","doi-asserted-by":"crossref","first-page":"8847","DOI":"10.1093\/nar\/11.24.8847","volume":"11","author":"CF Voliva","year":"1983","unstructured":"Voliva CF, Jahn CL, Comer MB, Hutchison CA III, Edgell MH (1983) The L1Md long interspersed repeat family in the mouse: almost all examples are truncated at one end. Nucleic Acids Res 11:8847\u20138859","journal-title":"Nucleic Acids Res"},{"key":"1321_CR123","doi-asserted-by":"crossref","first-page":"864","DOI":"10.1038\/353864a0","volume":"353","author":"MR Wallace","year":"1991","unstructured":"Wallace MR, Andersen LB, Saulino AM, Gregory PE, Glover TW, Collins FS (1991) A de novo Alu insertion results in neurofibromatosis type 1. Nature 353:864\u2013866","journal-title":"Nature"},{"key":"1321_CR124","doi-asserted-by":"crossref","first-page":"91","DOI":"10.1002\/gcc.1110","volume":"31","author":"T Wang","year":"2001","unstructured":"Wang T, Lerer I, Gueta Z, Sagi M, Kadouri L, Peretz T, Abeliovich D (2001) A deletion\/insertion mutation in the BRCA2 gene in a breast cancer family: a possible role of the Alu-polyA tail in the evolution of the deletion. Genes Chromosomes Cancer 31:91\u201395","journal-title":"Genes Chromosomes Cancer"},{"key":"1321_CR125","doi-asserted-by":"crossref","first-page":"938","DOI":"10.1055\/s-0037-1615098","volume":"79","author":"N Water van de","year":"1998","unstructured":"van de Water N, Williams R, Ockelford P, Browett P (1998) A 20.7\u00a0kb deletion within the factor VIII gene associated with LINE-1 element insertion. Thromb Haemost 79:938\u2013942","journal-title":"Thromb Haemost"},{"key":"1321_CR126","doi-asserted-by":"crossref","first-page":"1429","DOI":"10.1128\/MCB.21.4.1429-1439.2001","volume":"21","author":"W Wei","year":"2001","unstructured":"Wei W, Gilbert N, Ooi SL, Lawler JF, Ostertag EM, Kazazian HH, Boeke JD, Moran JV (2001) Human L1 retrotransposition: cis preference versus trans complementation. Mol Cell Biol 21:1429\u20131439","journal-title":"Mol Cell Biol"},{"key":"1321_CR127","doi-asserted-by":"crossref","first-page":"3019","DOI":"10.1093\/hmg\/11.24.3019","volume":"11","author":"KR Wilund","year":"2002","unstructured":"Wilund KR, Yi M, Campagna F, Arca M, Zuliani G, Fellin R, Ho YK, Garcia JV, Hobbs HH, Cohen JC (2002) Molecular mechanisms of autosomal recessive hypercholesterolemia. Hum Mol Genet 11:3019\u20133030","journal-title":"Hum Mol Genet"},{"key":"1321_CR128","doi-asserted-by":"crossref","first-page":"299","DOI":"10.1002\/(SICI)1098-1004(200003)15:3<299::AID-HUMU23>3.0.CO;2-1","volume":"15","author":"K Wulff","year":"2000","unstructured":"Wulff K, Gazda H, Schroder W, Robicka-Milewska R, Herrmann FH (2000) Identification of a novel large F9 gene mutation-an insertion of an Alu repeated DNA element in exon e of the factor 9 gene. Hum Mutat 15:299","journal-title":"Hum Mutat"},{"key":"1321_CR129","doi-asserted-by":"crossref","first-page":"1129","DOI":"10.1093\/hmg\/7.7.1129","volume":"7","author":"K Yoshida","year":"1998","unstructured":"Yoshida K, Nakamura A, Yazaki M, Ikeda S, Takeda S (1998) Insertional mutation by transposable element, L1, in the DMD gene results in X-linked dilated cardiomyopathy. Hum Mol Genet 7:1129\u20131132","journal-title":"Hum Mol Genet"},{"key":"1321_CR130","doi-asserted-by":"crossref","first-page":"328","DOI":"10.1016\/j.gde.2004.06.003","volume":"14","author":"Z Zhang","year":"2004","unstructured":"Zhang Z, Gerstein M (2004) Large-scale analysis of pseudogenes in the human genome. Curr Opin Genet Dev 14:328\u2013335","journal-title":"Curr Opin Genet Dev"},{"key":"1321_CR131","doi-asserted-by":"crossref","first-page":"316","DOI":"10.1002\/(SICI)1098-1004(200004)15:4<316::AID-HUMU3>3.0.CO;2-9","volume":"15","author":"Y Zhang","year":"2000","unstructured":"Zhang Y, Dipple KM, Vilain E, Huang BL, Finlayson G, Therrell BL, Worley K, Deininger P, McCabe ER (2000) AluY insertion (IVS4-52ins316 alu) in the glycerol kinase gene from an individual with benign glycerol kinase deficiency. Hum Mutat 15:316\u2013323","journal-title":"Hum Mutat"},{"key":"1321_CR132","doi-asserted-by":"crossref","first-page":"2541","DOI":"10.1101\/gr.1429003","volume":"13","author":"Z Zhang","year":"2003","unstructured":"Zhang Z, Harrison PM, Liu Y, Gerstein M (2003) Millions of years of evolution preserved: a comprehensive catalog of the processed pseudogenes in the human genome. Genome Res 13:2541\u20132558","journal-title":"Genome Res"},{"key":"1321_CR133","doi-asserted-by":"crossref","first-page":"172","DOI":"10.1007\/PL00006374","volume":"47","author":"E Zietkiewicz","year":"1998","unstructured":"Zietkiewicz E, Richer C, Sinnett D, Labuda D (1998) Monophyletic origin of Alu elements in primates. J Mol Evol 47:172\u2013182","journal-title":"J Mol Evol"}],"container-title":["Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00439-005-1321-0.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s00439-005-1321-0\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00439-005-1321-0","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,7,12]],"date-time":"2021-07-12T10:58:07Z","timestamp":1626087487000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s00439-005-1321-0"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2005,6,28]]},"references-count":133,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2005,9]]}},"alternative-id":["1321"],"URL":"https:\/\/doi.org\/10.1007\/s00439-005-1321-0","relation":{},"ISSN":["0340-6717","1432-1203"],"issn-type":[{"value":"0340-6717","type":"print"},{"value":"1432-1203","type":"electronic"}],"subject":[],"published":{"date-parts":[[2005,6,28]]}}}