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Gene Review

L1RE1  -  LINE1 retrotransposable element 1

Homo sapiens

Synonyms: L1.2, L1ORF1p, LINE retrotransposable element 1, LINE-1 retrotransposable element ORF1 protein, LRE1
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Disease relevance of LRE1

  • Previously, L1.2 was identified as the likely progenitor of a mutagenic insertion in the factor VIII gene in a patient with hemophilia A [1].

High impact information on LRE1

  • We previously isolated two human L1 elements (L1.2 and LRE2) as the progenitors of disease-producing insertions [2].
  • Remarkably, L1.2 also retrotransposed in a mouse cell line, suggesting a potential role for L1-based vectors in random insertional mutagenesis [2].
  • Point mutations in conserved domains of the L1.2-encoded proteins reduced retrotransposition by 100- to 1000-fold [2].
  • Here, we demonstrate that L1.2 is present at an intermediate insertion allele frequency in worldwide human populations and that common alleles (L1.2A and L1.2B) exhibit an approximately 16-fold difference in their ability to retrotranspose in cultured human HeLa cells [1].
  • This element, allele L1.2B at the LRE-1 locus of chromosome 22, was shown by nucleotide sequence identity to be the direct precursor of a de novo retrotransposition event into the factor VIII gene on the X chromosome, resulting in hemophilia A in patient JH-27 [3].

Biological context of LRE1

  • METHODS: Global DNA methylation levels were assessed using a modified version of the combined bisulfite restriction analysis of the LRE1 sequence in a population-based case-control study of HNSCC from the Boston area [4].
  • L1-negative RA SF were transfected with the functional L1.2 construct, and differential gene expression was analyzed by subtractive hybridization combined with nested PCR [5].
  • We also determined that L1.2 was absent from the gorilla genome and arose in humans after the divergence of gorilla and human lineages [6].
  • L1(IGL) and L1.2 map within a wider and well-recognized region of genomic instability on chromosome 22 [7].
  • The tyrosine kinase inhibitor Tyrphostin A9, phosphatidylinositol-3 kinase (PI3K) inhibitor LY294002 as well as proteasome inhibitors significantly blocked the CXCL8-induced chemotaxis of L1.2 cells and human neutrophils [8].

Other interactions of LRE1

  • Furthermore, LRE2 also cooperated with a more proximal site between -148 and -31 (LRE1), which also was not active alone [9].
  • LRE1 was identified as an NF-kappa B-binding site [9].


  1. Allelic heterogeneity in LINE-1 retrotransposition activity. Lutz, S.M., Vincent, B.J., Kazazian, H.H., Batzer, M.A., Moran, J.V. Am. J. Hum. Genet. (2003) [Pubmed]
  2. 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]
  3. Two additional potential retrotransposons isolated from a human L1 subfamily that contains an active retrotransposable element. Dombroski, B.A., Scott, A.F., Kazazian, H.H. Proc. Natl. Acad. Sci. U.S.A. (1993) [Pubmed]
  4. Global DNA methylation level in whole blood as a biomarker in head and neck squamous cell carcinoma. Ting Hsiung, D., Marsit, C.J., Houseman, E.A., Eddy, K., Furniss, C.S., McClean, M.D., Kelsey, K.T. Cancer Epidemiol. Biomarkers Prev. (2007) [Pubmed]
  5. Retrotransposable L1 elements expressed in rheumatoid arthritis synovial tissue: association with genomic DNA hypomethylation and influence on gene expression. Neidhart, M., Rethage, J., Kuchen, S., Künzler, P., Crowl, R.M., Billingham, M.E., Gay, R.E., Gay, S. Arthritis Rheum. (2000) [Pubmed]
  6. Full-length L1 elements have arisen recently in the same 1-kb region of the gorilla and human genomes. DeBerardinis, R.J., Kazazian, H.H. J. Mol. Evol. (1998) [Pubmed]
  7. A full-length and potentially active LINE element is integrated polymorphically within the IGL locus in a genomically unstable region of chromosome 22. Benjes, S.M., Morris, C.M. Hum. Genet. (2001) [Pubmed]
  8. Cbl and Akt regulate CXCL8-induced and CXCR1- and CXCR2-mediated chemotaxis. Lane, H.C., Anand, A.R., Ganju, R.K. Int. Immunol. (2006) [Pubmed]
  9. LPS-induced expression of the human IL-1 receptor antagonist gene is controlled by multiple interacting promoter elements. Smith, M.F., Eidlen, D., Arend, W.P., Gutierrez-Hartmann, A. J. Immunol. (1994) [Pubmed]
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