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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
MeSH Review

Long Interspersed Nucleotide Elements

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Disease relevance of Long Interspersed Nucleotide Elements

  • We have identified an RNA-dependent DNA polymerase activity in the microsomal fraction of human pluri-potential embryonal carcinoma cells NTera2D1, which are known to express the full length coding strand of the genomic Line-1 (L1) elements [1].
  • Mammalian LINE-1 (L1) elements belong to the superfamily of autonomously replicating retrotransposable elements that lack the long terminal repeated (LTR) sequences typical of retroviruses and retroviral-like retrotransposons [2].

High impact information on Long Interspersed Nucleotide Elements

  • We previously isolated two human L1 elements (L1.2 and LRE2) as the progenitors of disease-producing insertions [3].
  • The breakpoint occurs at 9q34 within COL5A1 intron 24 and interestingly, within a LINE-1 (L1) element at Xp21 [4].
  • Glycine receptor beta-subunit gene mutation in spastic mouse associated with LINE-1 element insertion [5].
  • This novel mutation of the dystrophin gene has important implications regarding retrotransposition of an active L1 element and provides a new insight into the origins of mutations in the dystrophin gene [6].
  • In addition, LINE 1 elements, satellite 2 sequences, and CpG island-containing DNA were identified [7].

Biological context of Long Interspersed Nucleotide Elements


Anatomical context of Long Interspersed Nucleotide Elements


Associations of Long Interspersed Nucleotide Elements with chemical compounds


Gene context of Long Interspersed Nucleotide Elements

  • The spa mutation is an insertion of a LINE-1 element in the gene for the beta subunit of the glycine receptor, Glrb [18].
  • An L1 element disrupts human bone sialoprotein promoter: lack of tissue-specific regulation by distalless5 (Dlx5) and runt homeodomain protein2 (Runx2)/core binding factor a1 (Cbfa1) elements [19].
  • Selection is for the restoration of URA3 gene activity attendant on recombination into an L1 element in the YAC insert [20].
  • A LINE-1 element lies at 5 kb upstream of CYBB in normal persons, and the 5' breakpoint of the deletion in the patient is in the LINE-1 element [21].
  • The truncated L1 element was inserted into CYP51P2 approximately 6 MYR ago [15].


  1. Reverse transcriptase activity from human embryonal carcinoma cells NTera2D1. Deragon, J.M., Sinnett, D., Labuda, D. EMBO J. (1990) [Pubmed]
  2. The biological properties and evolutionary dynamics of mammalian LINE-1 retrotransposons. Furano, A.V. Prog. Nucleic Acid Res. Mol. Biol. (2000) [Pubmed]
  3. High frequency retrotransposition in cultured mammalian cells. Moran, J.V., Holmes, S.E., Naas, T.P., DeBerardinis, R.J., Boeke, J.D., Kazazian, H.H. Cell (1996) [Pubmed]
  4. A translocation interrupts the COL5A1 gene in a patient with Ehlers-Danlos syndrome and hypomelanosis of Ito. Toriello, H.V., Glover, T.W., Takahara, K., Byers, P.H., Miller, D.E., Higgins, J.V., Greenspan, D.S. Nat. Genet. (1996) [Pubmed]
  5. Glycine receptor beta-subunit gene mutation in spastic mouse associated with LINE-1 element insertion. Kingsmore, S.F., Giros, B., Suh, D., Bieniarz, M., Caron, M.G., Seldin, M.F. Nat. Genet. (1994) [Pubmed]
  6. 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. Narita, N., Nishio, H., Kitoh, Y., Ishikawa, Y., Ishikawa, Y., Minami, R., Nakamura, H., Matsuo, M. J. Clin. Invest. (1993) [Pubmed]
  7. The genomic sequences bound to special AT-rich sequence-binding protein 1 (SATB1) in vivo in Jurkat T cells are tightly associated with the nuclear matrix at the bases of the chromatin loops. de Belle, I., Cai, S., Kohwi-Shigematsu, T. J. Cell Biol. (1998) [Pubmed]
  8. Molecular evidence for a relationship between LINE-1 elements and X chromosome inactivation: the Lyon repeat hypothesis. Bailey, J.A., Carrel, L., Chakravarti, A., Eichler, E.E. Proc. Natl. Acad. Sci. U.S.A. (2000) [Pubmed]
  9. An in vivo assay for the reverse transcriptase of human retrotransposon L1 in Saccharomyces cerevisiae. Dombroski, B.A., Feng, Q., Mathias, S.L., Sassaman, D.M., Scott, A.F., Kazazian, H.H., Boeke, J.D. Mol. Cell. Biol. (1994) [Pubmed]
  10. X inactivation-specific methylation of LINE-1 elements by DNMT3B: implications for the Lyon repeat hypothesis. Hansen, R.S. Hum. Mol. Genet. (2003) [Pubmed]
  11. A tandem gene duplication followed by recruitment of a retrotransposon created the paralogous bucentaur gene (bcntp97) in the ancestral ruminant. Iwashita, S., Ueno, S., Nakashima, K., Song, S.Y., Ohshima, K., Tanaka, K., Endo, H., Kimura, J., Kurohmaru, M., Fukuta, K., David, L., Osada, N. Mol. Biol. Evol. (2006) [Pubmed]
  12. The evolution of modern lineages of mouse L1 elements. Mears, M.L., Hutchison, C.A. J. Mol. Evol. (2001) [Pubmed]
  13. Rearrangement of a VH-associated LINE-1 element with the expressed IgH cluster in a murine myeloma cell line. Bard, J.A., Birshtein, B.K. J. Immunol. (1995) [Pubmed]
  14. Determination of L1 retrotransposition kinetics in cultured cells. Ostertag, E.M., Prak, E.T., DeBerardinis, R.J., Moran, J.V., Kazazian, H.H. Nucleic Acids Res. (2000) [Pubmed]
  15. The three human cytochrome P450 lanosterol 14 alpha-demethylase (CYP51) genes reside on chromosomes 3, 7, and 13: structure of the two retrotransposed pseudogenes, association with a line-1 element, and evolution of the human CYP51 family. Rozman, D., Strömstedt, M., Waterman, M.R. Arch. Biochem. Biophys. (1996) [Pubmed]
  16. A LINE-1 element insertion in the 5'-noncoding region of caprine growth hormone receptor gene. Maj, A., Zwierzchowski, L. Biochem. Genet. (2005) [Pubmed]
  17. A simple method for estimating global DNA methylation using bisulfite PCR of repetitive DNA elements. Yang, A.S., Estécio, M.R., Doshi, K., Kondo, Y., Tajara, E.H., Issa, J.P. Nucleic Acids Res. (2004) [Pubmed]
  18. Functional recovery of glycine receptors in spastic murine model of startle disease. Molon, A., Di Giovanni, S., Hathout, Y., Natale, J., Hoffman, E.P. Neurobiol. Dis. (2006) [Pubmed]
  19. An L1 element disrupts human bone sialoprotein promoter: lack of tissue-specific regulation by distalless5 (Dlx5) and runt homeodomain protein2 (Runx2)/core binding factor a1 (Cbfa1) elements. Kiyoshima, T., Yamauchi, M., Wong, C., Jheon, A., Ganss, B., Sodek, J. Gene (2002) [Pubmed]
  20. Vectors for inserting selectable markers in vector arms and human DNA inserts of yeast artificial chromosomes (YACs). Srivastava, A.K., Schlessinger, D. Gene (1991) [Pubmed]
  21. Nonhomologous recombination between the cytochrome b558 heavy chain gene (CYBB) and LINE-1 causes an X-linked chronic granulomatous disease. Kumatori, A., Faizunnessa, N.N., Suzuki, S., Moriuchi, T., Kurozumi, H., Nakamura, M. Genomics (1998) [Pubmed]
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