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Vol. 110, No. 1-4, 2005
Issue release date: 2005
Cytogenet Genome Res 110:402–406 (2005)

The recent evolution of human L1 retrotransposons

Boissinot S. · Furano A.V.
aDepartment of Biology, Queens College, CUNY, Flushing, NY (USA); bLaboratory of Molecular and Cellular Biology, NIDDK, NIH, Bethesda, MD (USA)

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L1 elements are the most successful retrotransposons in mammals and are responsible for at least 30% of human DNA. Far from being indolent genomic parasites, L1 elements have evolved and amplified rapidly during human evolution. Indeed during just the last 25 million years (MY) five distinct L1 families have emerged and generated tens of thousands of copies. The most recently evolved human specific L1 family is currently active and L1 copies have been accumulating in the human genome at about the same rate per generation as the currently active L1 families in Old World rats and mice. At times during the last 25 MY L1 activity constituted a significant enough genetic load to be subject to negative selection. During these same times, and in apparent response to the host, L1 underwent adaptive evolution. Understanding the molecular basis for these evolutionary changes should help illuminate one of the least understood but most important aspects of L1 biology, namely the extent and nature of the interaction between L1 and its host.   

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  1. Boissinot S, Furano AV: Adaptive evolution in LINE-1 retrotransposons. Mol Biol Evol 18:2186–2194 (2001).
  2. Boissinot S, Chevret P, Furano AV: L1 (LINE-1) retrotransposon evolution and amplification in recent human history. Mol Biol Evol 17:915–928 (2000).
  3. Boissinot S, Entezam A, Furano AV: Selection against deleterious LINE-1-containing loci in the human lineage. Mol Biol Evol 18:926–935 (2001).
  4. Brouha B, Schustak J, Badge RM, Lutz-Prigge S, Farley AH, Moran JV, Kazazian HH, Jr: Hot L1s account for the bulk of retrotransposition in the human population. Proc Natl Acad Sci USA 100:5280–5285 (2003).
  5. Burton FH, Loeb DD, Voliva CF, Martin SL, Edgell MH, Hutchison CA, 3rd: Conservation throughout mammalia and extensive protein-encoding capacity of the highly repeated DNA long interspersed sequence one. J Mol Biol 187:291–304 (1986).
  6. Burwinkel B, Kilimann MW: Unequal homologous recombination between LINE-1 elements as a mutational mechanism in human genetic disease. J Mol Biol 277:513–517 (1998).
  7. Dewannieux M, Esnault C, Heidmann T: LINE-mediated retrotransposition of marked Alu sequences. Nat Genet 35:41–48 (2003).
  8. Eickbush TH, Furano AV: Fruit flies and humans respond differently to retrotransposons. Curr Opin Genet Dev 12:669–674 (2002).
  9. Furano AV: The biological properties and evolutionary dynamics of mammalian LINE-1 retrotransposons. Prog Nucleic Acid Res Mol Biol 64:255–294 (2000).
  10. Furano AV, Boissinot S: LINE Elements: Evolution. Encyclopedia of the Human Genome. hhtp:// (2003).
  11. Furano AV, Duvernell D, Boissinot S: L1 (LINE-1) retrotransposon diversity differs dramatically between mammals and fish. Trends Genet 20:9–14 (2004).
  12. Gilbert N, Lutz-Prigge S, Moran JV: Genomic deletions created upon LINE-1 retrotransposition. Cell 110:315–325 (2002).
  13. Hardies SC, Martin SL, Voliva CF, Hutchison CA, 3rd, Edgell MH: An analysis of replacement and synonymous changes in the rodent L1 repeat family. Mol Biol Evol 3:109–125 (1986).
  14. Hohjoh H, Singer MF: Cytoplasmic ribonucleoprotein complexes containing human LINE-1 protein and RNA. EMBO J 15:630–639 (1996).
  15. Kazazian HH, Jr.: An estimated frequency of endogenous insertional mutations in humans. Nat Genet 22:130 (1999).
  16. Kumar S, Hedges SB: A molecular timescale for vertebrate evolution. Nature 392:917–920 (1998).
  17. Lander ES, Linton LM, Birren B, Nusbaum C, Zody MC, Baldwin J, Devon K, Dewar K, Doyle M, FitzHugh W, et al: Initial sequencing and analysis of the human genome. Nature 409:860–921 (2001).
  18. Liu G, Zhao S, Bailey JA, Sahinalp SC, Alkan C, Tuzun E, Green ED, Eichler EE: Analysis of primate genomic variation reveals a repeat-driven expansion of the human genome. Genome Res 13:358–368 (2003).
  19. Martin SL, Li J, Weisz JA: Deletion analysis defines distinct functional domains for protein-protein and nucleic acid interactions in the ORF1 protein of mouse LINE-1. J Mol Biol 304:11–20 (2000).
  20. Myers JS, Vincent BJ, Udall H, Watkins WS, Morrish TA, Kilroy GE, Swergold GD, Henke J, Henke L, Moran JV, et al: A comprehensive analysis of recently integrated human Ta L1 elements. Am J Hum Genet 71:312–326 (2002).
  21. Nekrutenko A, Li WH: Transposable elements are found in a large number of human protein-coding genes. Trends Genet 17:619–621 (2001).
  22. Ostertag EM, Kazazian HH, Jr: Biology of mammalian L1 retrotransposons. Annu Rev Genet 35:501–538 (2001).
  23. Ovchinnikov I, Rubin A, Swergold GD: Tracing the LINEs of human evolution. Proc Natl Acad Sci USA 99:10522–10527 (2002).
  24. Pascale E, Liu C, Valle E, Usdin K, Furano AV: The evolution of long interspersed repeated DNA (L1, LINE 1) as revealed by the analysis of an ancient rodent L1 DNA family. J Mol Evol 36:9–20 (1993).
  25. Schwartz A, Chan DC, Brown LG, Alagappan R, Pettay D, Disteche C, McGillivray B, de la Chapelle A, Page DC: Reconstructing hominid Y evolution: X-homologous block, created by X-Y transposition, was disrupted by Yp inversion through LINE-LINE recombination. Hum Mol Genet 7:1–11 (1998).
  26. Segal Y, Peissel B, Renieri A, de Marchi M, Ballabio A, Pei Y, Zhou J: LINE-1 elements at the sites of molecular rearrangements in Alport syndrome-diffuse leiomyomatosis. Am J Hum Genet 64:62–69 (1999).
  27. Sheen FM, Sherry ST, Risch GM, Robichaux M, Nasidze I, Stoneking M, Batzer MA, Swergold GD: Reading between the LINEs: human genomic variation induced by LINE-1 retrotransposition. Genome Res 10:1496–1508 (2000).
  28. Skowronski J, Fanning TG, Singer MF: Unit-length line-1 transcripts in human teratocarcinoma cells. Mol Cell Biol 8:1385–1397 (1988).
  29. Smit AF, Toth G, Riggs AD, Jurka J: Ancestral, mammalian-wide subfamilies of LINE-1 repetitive sequences. J Mol Biol 246:401–417 (1995).
  30. Speek M: Antisense promoter of human L1 retrotransposon drives transcription of adjacent cellular genes. Mol Cell Biol 21:1973–1985 (2001).
  31. Symer DE, Connelly C, Szak ST, Caputo EM, Cost GJ, Parmigiani G, Boeke JD: Human L1 retrotransposition is associated with genetic instability in vivo. Cell 110:327–338 (2002).
  32. Vincent BJ, Myers JS, Ho HJ, Kilroy GE, Walker JA, Watkins WS, Jorde LB, Batzer MA: Following the LINEs: an analysis of primate genomic variation at human-specific LINE-1 insertion sites. Mol Biol Evol 20:1338–1348 (2003).
  33. Voliva CF, Martin SL, Hutchison CA, 3rd, Edgell MH: Dispersal process associated with the L1 family of interspersed repetitive DNA sequences. J Mol Biol 178:795–813 (1984).
  34. Yang Z, Bielawski JP: Statistical methods for detecting molecular adaptation. Trends Ecol Evol 15:496–503 (2000).
  35. Yang Z, Boffelli D, Boonmark N, Schwartz K, Lawn R: Apolipoprotein(a) gene enhancer resides within a LINE element. J Biol Chem 273:891–897 (1998).
  36. Yoder JA, Walsh CP, Bestor TH: Cytosine methylation and the ecology of intragenomic parasites. Trends Genet 13:335–340 (1997).

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