John Goodier, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, USA
Haig H Kazazian, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, USA
Published online: September 2005
DOI: 10.1038/npg.els.0005061
Long interspersed nuclear elements are non-long terminal repeat retrotransposons that have reached a high copy number in the human genome by a ‘copy-and-paste’ mechanism of replication.
Keywords: non-LTR retrotransposons; L1 element; junk DNA; insertional mutagenesis
|
Figure 1. Structure of a full-length human LINE1 element: TSD, variable length target site duplication; 5¢ UTR, 5¢ untranslated region; ORF1, first open reading frame; Lz, a putative leucine zipper domain encoded by the ORF1 gene, which may be important for protein–protein interactions; IGS, intergenic spacer region; ORF2, second open reading frame; EN, endonuclease domain; RT, reverse transcriptase domain; ZN, putative zinc knuckle motif; 3¢ UTR, 3¢ untranslated region; GrPPT, guanosine-rich polypurine tract, of unknown function; AATAAA, hexanucleotide poly(A) signal; A
|
| References | |
| Bailey JA, Carrel L, Chakravarti A and Eichler EE (2000) Molecular evidence for a relationship between LINE-1 elements and X chromosome inactivation: the Lyon repeat hypothesis. Proceedings of the National Academy of Sciences of the United States of America 97: 6634–6639. | |
| Becker KG, Swergold GD, Ozato K and Thayer RE (1993) Binding of the ubiquitous nuclear transcription factor YY1 to a cis regulatory sequence in the human LINE-1 transposable element. Human Molecular Genetics 2: 1697–1702. | |
| Boissinot S, Chevret P and Furano AV (2000) L1 (LINE-1) retrotransposon evolution and amplification in recent human history. Molecular Biology and Evolution 17: 915–928. | |
| Cost GJ and 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: 18081–18093. | |
| Donnelly SR, Hawkins TE and Moss SE (1999) A conserved nuclear element with a role in mammalian gene regulation. Human Molecular Genetics 8: 1723–1728. | |
| Goodier JL, Ostertag EM and Kazazian Jr HH (2000) Transduction of 3¢-flanking sequences is common in L1 retrotransposon. Human Molecular Genetics 9: 653–657. | |
| Hsu W, Kawamura S, Fontaine JM, Kurachi K and Kurachi S (1999) Organization and significance of LINE-1-derived sequences in the 5¢ flanking region of the factor IX gene. Thrombosis and Haemostasis 82: 1782–1783. | |
| International Human Genome Sequencing Consortium (2001) The human genome: initial sequencing and analysis. Nature 409: 860–921. | |
| Jurka J (2001) Repbase update: a database and an electronic journal of repetitive elements. Trends in Genetics 16: 418–420. | |
| Kazazian HH Jr and Moran JV (1998) The impact of L1 retrotransposons on the human genome. Nature Genetics 19: 19–23. | |
| Li W-H, Gu Z, Wang H and Nekrutenko A (2001) Evolutionary analyses of the human genome. Nature 409: 847–849. | |
| Malik HS, Burke WD and Eickbush TH (1999) The age and evolution of non-LTR retrotransposons. Molecular Biology and Evolution 16: 793–805. | |
| Martin SL and Bushman FD (2001) Nucleic acid chaperone activity of the ORF1 protein from the mouse LINE-1 retrotransposon. Molecular and Cellular Biology 21: 467–475. | |
| Moran JV, DeBerardinis RJ and Kazazian Jr HH (1999) Exon shuffling by L1 retrotransposition. Science 283: 1530–1534. | |
| Ostertag EM and Kazazian Jr HH (2001) Biology of L1 retrotransposons. Annual Review of Genetics 35: 501–538. | |
| Sassaman DM, Dombroski BA, Moran JV, et al. (1997) Many human L1 elements are capable of retrotransposition. Nature Genetics 16: 37–43. | |
| Skowronski J, Fanning TG and Singer MF (1988) Unit-length line-1 transcripts in human teratocarcinoma cells. Molecular and Cellular Biology 8: 1385–1397. | |
| Smit AF, Toth G, Riggs AD and Jurka J (1995) Ancestral, mammalian-wide subfamilies of LINE-1 repetitive sequences. Journal of Molecular Biology 246: 401–417. | |
| Speek M (2001) Antisense promoter of human L1 retrotransposon drives transcription of adjacent cellular genes. Molecular and Cellular Biology 21: 1973–1985. | |
| Tchenio T, Casella J-F and Heidmann T (2000) Members of the SRY family regulate the human LINE retrotransposons. Nucleic Acids Research 28: 411–415. | |
| Woodcock DM, Lawler CB, Linsenmeyer ME, Doherty JP and Warren WD (1997) Asymmetric methylation in the hypermethylated CpG promoter region of the human L1 retrotransposon. Journal of Biological Chemistry 272: 7810–7816. | |
| Yang Z, Bofelli D, Boonmark N, Schwartz K and Lawn R (1998) Apoliprotein(a) gene enhancer resides within a LINE element. Journal of Biological Chemistry 273: 891–897. | |
| Further Reading | |
| Furano AV (2000) The biological properties and evolutionary dynamics of mammalian LINE-1 retrotransposons. Progress in Nucleic Acids Research and Molecular Biology 64: 255–294. | |
| book Hutchison III CA, Hardies SC, Loeb DD, Shehee WR and Edgell MH (1989) "LINEs and related retrotransposons: long interspersed repeated sequences in the eukaryotic genome". In: Berg DE and Howe MM (eds.) Mobile DNA, pp. 593–617. Washington, DC: American Society for Microbiology. | |
| Jurka J (1998) Repeats in genomic DNA: mining and meaning. Current Opinion in Structural Biology 8: 333–337. | |
| Mears ML and Hutchison III CA (2001) The evolution of modern lineages of mouse L1 elements. Journal of Molecular Evolution 52: 51–62. | |
| book Moran JV and Gilbert N (2002) "LINE-1 retrotransposons and related elements". In: Craig NL, Craigie R, Gellert M and Lambowith A (eds.) Mobile DNA II. Washington, DC: American Society of Microbiology. | |
| Smit AFA (1999) Interspersed repeats and other mementos of transposable elements in mammalian genomes. Current Opinion in Genetics and Development 9: 657–663. | |
| Web Links | |
| ePath GIRI: Genetic Information Research Institute http://www.girinst.org/ | |
Copyright © 2000-2013 by John Wiley & Sons, Inc., or related companies. All rights reserved.
