Formation of the L1Hs retroelement in the intron of the MGMT gene of hominoidea

  • O. V. Pidpala
  • L. L. Lukash

Abstract

Aim. Analyze the formation of a human-specific L1Hs element in the intron 3 of the MGMT gene on an example of a hominid.  Methods. The results of the search and identification of mobile genetic elements were performed using the CENSOR program. The homology between nucleotide sequences was determined by BLAST 2.6.1. Results. The components of the cluster, where the L1Hs element in the human being was formed, are fragments of the L1PA6 element, which are common in the monkeys of the Old and New World. In the gibbon, among the L1 element groups, there are representatives of older subfamilies (L1PB, L1MC, L1MD and L1ME), and the partial homology to the L1Hs of the element is predominantly of elements of groups that have arisen in the mammalian genomes. Conclusions. Formation of a human-specific L1Hs element occurred during the evolution of Hominoidea in parallel with the formation of the cluster structure of MGE in humans from different subfamilies of LINE1-elements whose component components, obviously, also involved in the formation of the L1Hs element.

Keywords: Hominoidea, MGMT gene, intron 3, human-specific L1Hs element.

References

Chénais B., Caruso A., Hiard S., Casse N. The impact of transposable elements on eukaryotic genomes: from genome size increase to genetic adaptation to stressful environments. Gene. 2012. Vol. 509, No 1. P. 7–15. doi: 10.1016/j.gene.2012.07.042.

International Human Genome Sequencing Consortium: Initial sequencing and analysis of the human genome. Nature. 2001. Vol. 409, No 6822. P. 860–921.

de Koning A.P., Gu W., Castoe T.A., Batzer M.A., Pollock D.D. Repetitive elements may comprise over two-thirds of the human genome. PLoS Genet. 2011. Vol. 7, No 12. e1002384. doi: 10.1371/journal.pgen.1002384.

Mills R.E., Bennett E.A., Iskow R.C., Devine S.E. Which transposable elements are active in the human genome? Trends Genet. 2007. Vol. 23, No 4. P. 183–191.

Brouha B., Schustak J., Badge R.M., Lutz-Prigge S., Farley A.H., Moran J.V., Kazazian H.H. Jr. Hot L1s account for the bulk of retrotransposition in the human population. Proc. Natl. Acad. Sci. USA. 2003. Vol. 100, No 9. P. 5280–5285.

Skowronski J., Fanning T.G., Singer M.F. Unit-length line-1 transcripts in human teratocarcinoma cells. Mol. Cell. Biol. 1988. Vol. 8, No 4. P. 1385–1397.

Kaina B., Christmann M., Naumann S., Roos W.P. MGMT: key node in the battle against genotoxicity, carcinogenicity and apoptosis induced by alkylating agents. DNA Repair (Amst). 2007. Vol. 8, No 8. Р. 1079–1099. doi: 10.1016/j.dnarep.2007.03.008.

Pidpala O., Lukash L. Regulatory potential of mobile genetic elements in the human MGMT gene. J. Genet. Genomic Sci. 2018. Vol. 3. P. 008–015. doi: 10.24966/GGS-2485/100008.

Sotero-Caio C.G., Platt R.N., Suh A., Ray D.A. Evolution and diversity of transposable elements in vertebrate genomes. Ge-nome Biol. Evol. 2017. Vol. 9. P. 161–177. doi: 10.1093/gbe/evw264.

Kazazian H.H. Jr., Moran J.V. The impact of L1 retrotransposons on the human genome. Nat. Genet. 1998. Vol. 19, No 1. P. 19–24.

Furano A.V. The biological properties and evolutionary dynamics of mammalian LINE-1 retrotransposons. Prog. Nucleic Acid Res. Mol. Biol. 2000. Vol. 64. P. 255–294.

Boissinot S., Chevret P., Furano A.V. L1 (LINE-1) retrotransposon evolution and amplification in recent human history. Mol. Biol. Evol. 2000. Vol. 17, No 6. P. 915–928.

Gu Z., Wang H., Nekrutenko A., Li W.H. Densities, length proportions, and other distributional features of repetitive se-quences in the human genome estimated from 430 megabases of genomic sequence. Gene. 2000. Vol. 259, No 1–2. P. 81–88.

Smit A.F., Tóth G., Riggs A.D., Jurka J. Ancestral, mammalian-wide subfamilies of LINE-1 repetitive sequences. J. Mol. Biol. 1995. Vol. 246, No 3. P. 401–417.

Cantrell M.A., Grahn R.A., Scott L., Wichman H.A. Isolation of markers from recently transposed LINE-1 retrotransposons. Biotechniques. 2000. Vol. 29, No 6. P. 1310–1316.