The European database of L1-HS retrotransposon insertions in humans

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Awano2010 Awano, H., Malueka, R.G., Yagi, M., Okizuka, Y., Takeshima, Y. and Matsuo, M. (2010) Contemporary retrotransposition of a novel non-coding gene induces exon-skipping in dystrophin mRNA. J Hum Genet, 55, 785-790. PMID:20827276
Baillie2011 Baillie, J.K., Barnett, M.W., Upton, K.R., Gerhardt, D.J., Richmond, T.A., De Sapio, F., Brennan, P.M., Rizzu, P., Smith, S., et al. (2011) Somatic retrotransposition alters the genetic landscape of the human brain. Nature, 479, 534-537. PMID:22037309
Beck2010 Beck, C.R., Collier, P., Macfarlane, C., Malig, M., Kidd, J.M., Eichler, E.E., Badge, R.M. and Moran, J.V. (2010) LINE-1 Retrotransposition Activity in Human Genomes. Cell, 141, 1159-1170. PMID:20602998
Bernard2009 Bernard, V., Minnerop, M., Bürk, K., Kreuz, F., Gillessen-Kaesbach, G. and Zuhlke, C. (2009) Exon deletions and intragenic insertions are not rare in ataxia with oculomotor apraxia 2. BMC Med Genet, 10, 87. PMID:19744353
Brouha2002 Brouha, B., Meischl, C., Ostertag, E., de Boer, M., Zhang, Y., Neijens, H., Roos, D. and Kazazian, H.H. (2002) Evidence consistent with human L1 retrotransposition in maternal meiosis I. Am J Hum Genet, 71, 327-336. PMID:12094329
Evrony2012 Evrony, G.D., Cai, X., Lee, E., Hills, L.B., Elhosary, P.C., Lehmann, H.S., Parker, J.J., Atabay, K.D., Gilmore, E.C., et al. (2012) Single-neuron sequencing analysis of L1 retrotransposition and somatic mutation in the human brain. Cell, 151, 483-496. PMID:23101622
Ewing2010 Ewing, A.D. and Kazazian, H.H. (2010) High-throughput sequencing reveals extensive variation in human-specific L1 content in individual human genomes. Genome Res, 20, 1262-1270. PMID:20488934
Ewing2011 Ewing, A.D. and Kazazian, H.H. (2011) Whole-genome resequencing allows detection of many rare LINE-1 insertion alleles in humans. Genome Res, 21, 985-990. PMID:20980553
Helman2014 Helman, E., Lawrence, M.S., Stewart, C., Sougnez, C., Getz, G. and Meyerson, M. (2014) Somatic retrotransposition in human cancer revealed by whole-genome and exome sequencing. Genome Res, 24, 1053-1063. PMID:24823667
Holmes1994 Holmes, S.E., Dombroski, B.A., Krebs, C.M., Boehm, C.D. and Kazazian, H.H. (1994) A new retrotransposable human L1 element from the LRE2 locus on chromosome 1q produces a chimaeric insertion. Nat Genet, 7, 143-148. PMID:7920631
Iskow2010 Iskow, R.C., McCabe, M.T., Mills, R.E., Torene, S., Pittard, W.S., Neuwald, A.F., Van Meir, E.G., Vertino, P.M. and Devine, S.E. (2010) Natural mutagenesis of human genomes by endogenous retrotransposons. Cell, 141, 1253-1261. PMID:20603005
Kazazian1988 Kazazian, H.H., Wong, C., Youssoufian, H., Scott, A.F., Phillips, D.G. and Antonarakis, S.E. (1988) Haemophilia A resulting from de novo insertion of L1 sequences represents a novel mechanism for mutation in man. Nature, 332, 164-166. PMID:2831458
Kondo-lida1999 Kondo-Iida, E., Kobayashi, K., Watanabe, M., Sasaki, J., Kumagai, T., Koide, H., Saito, K., Osawa, M., Nakamura, Y. and Toda, T. (1999) Novel mutations and genotype-phenotype relationships in 107 families with Fukuyama-type congenital muscular dystrophy (FCMD). Hum Mol Genet, 8, 2303-2309. PMID:10545611
Lanikova2013 Lanikova, L., Kucerova, J., Indrak, K., Divoka, M., Issa, J.P., Papayannopoulou, T., Prchal, J.T. and Divoky, V. (2013) β-Thalassemia due to intronic LINE-1 insertion in the β-globin gene (HBB): molecular mechanisms underlying reduced transcript levels of the β-globin(L1) allele. Hum Mutat, 34, 1361-1365. PMID:23878091
Lee2012 Lee, E., Iskow, R., Yang, L., Gokcumen, O., Haseley, P., Luquette, L.J., Lohr, J.G., Harris, C.C., Ding, L., et al. (2012) Landscape of somatic retrotransposition in human cancers. Science, 337, 967-971. PMID:22745252
Li2001 Li, X., Scaringe, W.A., Hill, K.A., Roberts, S., Mengos, A., Careri, D., Pinto, M.T., Kasper, C.K. and Sommer, S.S. (2001) Frequency of recent retrotransposition events in the human factor IX gene. Hum Mutat, 17, 511-519. PMID:11385709
Martinez-Garay2003 Martinez-Garay, I., Ballesta, M.J., Oltra, S., Orellana, C., Palomeque, A., Molto, M.D., Prieto, F. and Martinez, F. (2003) Intronic L1 insertion and F268S, novel mutations in RPS6KA3 (RSK2) causing Coffin-Lowry syndrome. Clin Genet, 64, 491-496. PMID:14986828
Meischl2000 Meischl, C., Boer, M., Ahlin, A. and 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, 697-703. PMID:10980575
Miki1992 Miki, Y., Nishisho, I., Horii, A., Miyoshi, Y., Utsunomiya, J., Kinzler, K.W., Vogelstein, B. and Nakamura, Y. (1992) Disruption of the APC gene by a retrotransposal insertion of L1 sequence in a colon cancer. Cancer Res, 52, 643-645. PMID:1310068
Mine2007 Mine, M., Chen, J.M., Brivet, M., Desguerre, I., Marchant, D., de Lonlay, P., Bernard, A., Ferec, C., Abitbol, M., et al. (2007) A large genomic deletion in the PDHX gene caused by the retrotranspositional insertion of a full-length LINE-1 element. Hum Mutat, 28, 137-142. PMID:17152059
Morisada2010 Morisada, N., Rendtorff, N.D., Nozu, K., Morishita, T., Miyakawa, T., Matsumoto, T., Hisano, S., Iijima, K., Tranebjaerg, L., et al. (2010) Branchio-oto-renal syndrome caused by partial EYA1 deletion due to LINE-1 insertion. Pediatr Nephrol, 25, 1343-1348. PMID:20130917
Mukherjee2004 Mukherjee, S., Mukhopadhyay, A., Banerjee, D., Chandak, G.R. and Ray, K. (2004) Molecular pathology of haemophilia B: identification of five novel mutations including a LINE 1 insertion in Indian patients. Haemophilia, 10, 259-263. PMID:15086324
Musova2006 Musova, Z., Hedvicakova, P., Mohrmann, M., Tesarova, M., Krepelova, A., Zeman, J. and Sedlacek, Z. (2006) A novel insertion of a rearranged L1 element in exon 44 of the dystrophin gene: further evidence for possible bias in retroposon integration. Biochem Biophys Res Commun, 347, 145-149. PMID:16808900
Narita1993 Narita, N., Nishio, H., Kitoh, Y., Ishikawa, Y., Ishikawa, Y., Minami, R., Nakamura, H. and Matsuo, M. (1993) Insertion of a 5' truncated L1 element into the 3' 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, 1862-1867. PMID:8387534
Samuelov2011 Samuelov, L., Fuchs-Telem, D., Sarig, O. and Sprecher, E. (2011) An exceptional mutational event leading to Chanarin-Dorfman syndrome in a large consanguineous family. Br J Dermatol, 164, 1390-1392. PMID:21332462
Schwahn1998 Schwahn, U., Lenzner, S., Dong, J., Feil, S., Hinzmann, B., van Duijnhoven, G., Kirschner, R., Hemberger, M., Bergen, A.A., et al. (1998) Positional cloning of the gene for X-linked retinitis pigmentosa 2. Nat Genet, 19, 327-332. PMID:9697692
Shukla2013 Shukla, R., Upton, K.R., Munoz-Lopez, M., Gerhardt, D.J., Fisher, M.E., Nguyen, T., Brennan, P.M., Baillie, J.K., Collino, A., et al. (2013) Endogenous retrotransposition activates oncogenic pathways in hepatocellular carcinoma. Cell, 153, 101-111. PMID:23540693
Solyom2012 Solyom, S., Ewing, A.D., Rahrmann, E.P., Doucet, T., Nelson, H.H., Burns, M.B., Harris, R.S., Sigmon, D.F., Casella, A., et al. (2012) Extensive somatic L1 retrotransposition in colorectal tumors. Genome Res, 22, 2328-2338. PMID:22968929
Stewart2011 Stewart, C., Kural, D., Stromberg, M.P., Walker, J.A., Konkel, M.K., Stutz, A.M., Urban, A.E., Grubert, F., Lam, H.Y., et al. (2011) A comprehensive map of mobile element insertion polymorphisms in humans. PLoS Genet, 7, e1002236. PMID:21876680
Van_den_Hurk2003 van den Hurk, J.A., van de Pol, D.J., Wissinger, B., van Driel, M.A., Hoefsloot, L.H., de Wijs, I.J., van den Born, L.I., Heckenlively, J.R., Brunner, H.G., et al. (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, 268-275. PMID:12827496
Wimmer2011 Wimmer, K., Callens, T., Wernstedt, A. and Messiaen, L. (2011) The NF1 gene contains hotspots for L1 endonuclease-dependent de novo insertion. PLoS Genet, 7, e1002371. PMID:22125493
Yoshida1998 Yoshida, K., Nakamura, A., Yazaki, M., Ikeda, S. and Takeda, S. (1998) Insertional mutation by transposable element, L1, in the DMD gene results in X-linked dilated cardiomyopathy. Hum Mol Genet, 7, 1129-1132. PMID:9618170