Genomic Deletions Created upon LINE-1 Retrotransposition

Boeke, 1997, LINEs and Alus-the polyA connection, Nat. Genet., 16, 6, 10.1038/ng0597-6 Carroll, 2001, Large-scale analysis of the Alu Ya5 and Yb8 subfamilies and their contribution to human genomic diversity, J. Mol. Biol., 311, 17, 10.1006/jmbi.2001.4847 Chaboissier, 2000, Retrotransposition of the I factor, a non-long terminal repeat retrotransposon of Drosophila, generates tandem repeats at the 3′ end, Nucleic Acids Res., 28, 2467, 10.1093/nar/28.13.2467 Cost, 1998, Targeting of human retrotransposon integration is directed by the specificity of the L1 endonuclease for regions of unusual DNA structure, Biochemistry, 37, 18081, 10.1021/bi981858s Dombroski, 1991, Isolation of an active human transposable element, Science, 254, 1805, 10.1126/science.1662412 Esnault, 2000, Human LINE retrotransposons generate processed pseudogenes, Nat. Genet., 24, 363, 10.1038/74184 Feng, 1996, Human L1 retrotransposon encodes a conserved endonuclease required for retrotransposition, Cell, 87, 905, 10.1016/S0092-8674(00)81997-2 Garvey, 2002, The muscular dystrophy with myositis (mdm) mouse mutation disrupts a skeletal muscle-specific domain of titin, Genomics, 79, 146, 10.1006/geno.2002.6685 Hayakawa, 2001, Alu-mediated inactivation of the human CMP-N-acetylneuraminic acid hydroxylase gene, Proc. Natl. Acad. Sci. USA, 98, 11399, 10.1073/pnas.191268198 Hayward, 1997, Recombination creates novel L1 (LINE-1) elements in Rattus norvegicus, Genetics, 146, 641, 10.1093/genetics/146.2.641 Hohjoh, 1996, Cytoplasmic ribonucleoprotein complexes containing human LINE-1 protein and RNA, EMBO J., 15, 630, 10.1002/j.1460-2075.1996.tb00395.x Hohjoh, 1997, Sequence-specific single-strand RNA binding protein encoded by the human LINE-1 retrotransposon, EMBO J., 16, 6034, 10.1093/emboj/16.19.6034 Inoue, 1990, High efficiency transformation of Escherichia coli with plasmids, Gene, 96, 23, 10.1016/0378-1119(90)90336-P Kass, 1995, Gene conversion as a secondary mechanism of short interspersed element (SINE) evolution, Mol. Cell. Biol., 15, 19, 10.1128/MCB.15.1.19 Kojima, 2000, The disabled 1 gene is disrupted by a replacement with L1 fragment in yotari mice, Brain Res. Mol. Brain Res., 75, 121, 10.1016/S0169-328X(99)00313-7 Lander, 2001, Initial sequencing and analysis of the human genome, Nature, 409, 860, 10.1038/35057062 Liao, 1998, Characterization of a novel class of interspersed LTR elements in primate genomes, J. Mol. Evol., 46, 649, 10.1007/PL00006345 Luan, 1995, RNA template requirements for target DNA-primed reverse transcription by the R2 retrotransposable element, Mol. Cell. Biol., 15, 3882, 10.1128/MCB.15.7.3882 Luan, 1993, Reverse transcription of R2Bm RNA is primed by a nick at the chromosomal target site, Cell, 72, 595, 10.1016/0092-8674(93)90078-5 Martin, 1991, Ribonucleoprotein particles with LINE-1 RNA in mouse embryonal carcinoma cells, Mol. Cell. Biol., 11, 4804, 10.1128/MCB.11.9.4804 Mathias, 1991, Reverse transcriptase encoded by a human transposable element, Science, 254, 1808, 10.1126/science.1722352 Moran, 1999, Exon shuffling by L1 retrotransposition, Science, 283, 1530, 10.1126/science.283.5407.1530 Moran, 2002, Mammalian LINE-1 retrotransposons and related elements Moran, 1996, High frequency retrotransposition in cultured mammalian cells, Cell, 87, 917, 10.1016/S0092-8674(00)81998-4 Morrish, 2002, Endonuclease-independent L1 retrotransposition, Nat. Genet., 31, 159, 10.1038/ng898 Ostertag, 2001, Twin priming, Genome Res., 11, 2059, 10.1101/gr.205701 Ovchinnikov, 2001, Genomic characterization of recent human LINE-1 insertions, Genome Res., 11, 2050, 10.1101/gr.194701 Sassaman, 1997, Many human L1 elements are capable of retrotransposition, Nat. Genet., 16, 37, 10.1038/ng0597-37 Saxton, 1998, Recombination between subtypes creates a mosaic lineage of LINE-1 that is expressed and actively retrotransposing in the mouse genome, J. Mol. Biol., 280, 611, 10.1006/jmbi.1998.1899 Segal, 1999, LINE-1 elements at the sites of molecular rearrangements in Alport syndrome-diffuse leiomyomatosis, Am. J. Hum. Genet., 64, 62, 10.1086/302213 Sheen, 2000, Reading between the LINEs, Genome Res., 10, 1496, 10.1101/gr.149400 Su, 2000, Genomic rearrangements of the APC tumor-suppressor gene in familial adenomatous polyposis, Hum. Genet., 106, 101, 10.1007/s004390051016 Swergold, 1990, Identification, characterization, and cell specificity of a human LINE-1 promoter, Mol. Cell. Biol., 10, 6718, 10.1128/MCB.10.12.6718 Symer, 2002, Human L1 retrotransposition is associated with genetic instability in vivo, Cell, 110, 327, 10.1016/S0092-8674(02)00839-5 Szostak, 1983, The double-strand-break repair model for recombination, Cell, 33, 25, 10.1016/0092-8674(83)90331-8 Tang, 1994, The optimization of preparations of competent cells for transformation of E. coli, Nucleic Acids Res., 22, 2857, 10.1093/nar/22.14.2857 Wang, 2001, A deletion/insertion mutation in the BRCA2 gene in a breast cancer family, Genes Chromosomes Cancer, 31, 91, 10.1002/gcc.1110 Wei, 2001, Human L1 retrotransposition, Mol. Cell. Biol., 21, 1429, 10.1128/MCB.21.4.1429-1439.2001 Wei, 2000, A transient assay reveals that cultured human cells can accommodate multiple LINE-1 retrotransposition events, Anal. Biochem., 284, 435, 10.1006/abio.2000.4675