Full-length L1 elements have arisen recently in the same 1-kb region of the gorilla and human genomes

Journal of Molecular Evolution

Volumn 47, Issue 3, 1998, Pages 292-301

  DeBerardinis, Ralph J ^a   Kazazian Jr , Haig H ^a  

^a UNIVERSITY OF PENNSYLVANIA   (United States)

Author keywords

L1; Phylogeny; Primates; Repetitive; Retrotransposon

Indexed keywords

ANIMAL CELL; ARTICLE; EVOLUTION; GENE FREQUENCY; GENE LOCUS; GENOME; GERM LINE; GORILLA; HUMAN; HUMAN CELL; NONHUMAN; NUCLEOTIDE REPEAT; NUCLEOTIDE SEQUENCE; OPEN READING FRAME; PHYLOGENY; POLYMERASE CHAIN REACTION; RETROPOSON;

ALLELES; ANIMALS; BASE SEQUENCE; CHROMOSOME MAPPING; EVOLUTION, MOLECULAR; GENE FREQUENCY; GENOME, HUMAN; GORILLA GORILLA; HUMANS; MOLECULAR SEQUENCE DATA; OPEN READING FRAMES; PHYLOGENY; RETROELEMENTS; SEQUENCE ANALYSIS, DNA;

ANIMALIA; MAMMALIA; PRIMATES;

EID: 0031714189     PISSN: 00222844     EISSN: None     Source Type: Journal    
DOI: 10.1007/PL00006387     Document Type: Article

References (51)

1. Adey NB, Comer MB, Edgell MH, Hutchison CA III (1991) Nucleotide sequence of a mouse full-length F-type L1 element. Nucleic Acids Res 19:2497
2. Adey NB, Schichman SA, Graham DK, Peterson SN, Edgell MH, Hutchison CA III (1994a) Rodent L1 evolution has been driven by a single dominant lineage that has repeatedly acquired new transcriptional regulatory sequences. Mol Biol Evol 11:778-789
3. Adey NB, Tollefsbol TO, Sparks AB, Edgell MH, Hutchison CA III (1994b) Molecular resurrection of an extinct ancestral promoter for mouse L1. Proc Natl Acad Sci USA 91:1569-1573
4. Altschul SF, Gish W, Miller W, Myers EW, Lipman DJ (1990) Basic local alignment search tool. J Mol Biol 215:403-410
5. Becker KG, Swergold GD, Ozato K, Thayer RE (1993) Binding of the ubiquitous nuclear transcription factor YY1 to a cis regulatory sequence in the human LINE-1 transposable element. Hum Mol Genet 2:1697-1702
6. Burton FH, Loeb DD, Voliva C, Martin SL, Edgell MH, Hutchison CA III (1986) Conservation throughout mammalia and extensive protein-encoding capacity of the highly repeated DNA long interspersed sequence one. J Mol Biol 187:291-304
7. Cann RL, Stoneking AC, Wilson AC (1987) Mitochondrial DNA and human evolution. Nature 356:389-390
8. Cordonnier A, Casella JF, Heidmann, T (1995) Isolation of novel human endogenous retrovirus-like elements with foamy virus-related pol sequence. J Virol 69:5890-5897
9. Dombroski BA, Mathias SL, Nanthakumar E, Scott AF, Kazazian HH Jr (1991) Isolation of an active human transposable element. Science 254:1805-1808
10. Dombroski BA, Scott AF, Kazazian HH Jr (1993) Two additional potential retrotransposons isolated from a human L1 subfamily that contains an active retrotransposable element. Proc Natl Acad Sci USA 90:6513-6517
11. Edwards MC, Gibbs RA (1992) A Human Dimorphism Resulting from Loss of an Alu. Genomics 14:590-597
12. Fanning TG (1983) Size and structure of the highly repetitive BamHI element in mice. Nucleic Acids Res 11:5073-5091
13. Fanning T, Singer M (1987) The LINE-1 DNA sequences in four mammalian orders predict proteins that conserve homologies to retrovirus proteins. Nucleic Acids Res 15:2251-2260
14. Fanning TG, Singer MF (1987) LINE-1: a mammalian transposable element. Biochim Biophys Acta 910:203-212
15. Feng Q, Moran JV, Kazazian HH Jr, Boeke JD (1996) Human L1 retrotransposon encodes a conserved endonuclease required for retrotransposition. Cell 87:905-916
16. Furano AV, Usdin K (1995) DNA "fossils" and phylogenetic analysis. J Biol Chem 270:25301-25304
17. Furano AV, Hayward BE, Chevret P, Catzeflis FM, Usdin K (1994) Amplification of the ancient murine Lx family of long interspersed repeated DNA occurred during the murine radiation. J Mol Evol 38:18-37
18. Grimaldi G, Skowronski J, Singer MF (1984) Defining the beginning and end of KpnI family segments. EMBO J 3:1753-1759
19. Hattori M, Kuhara S, Takenaka O, Sakaki Y (1986) L1 family of repetitive DNA sequences in primates may be derived from a sequence encoding a reverse transcriptase-related protein. Nature 321:625-628
20. Hohjoh H, Singer MF (1996) Cytoplasmic ribonucleoprotein complexes containing human LINE-1 protein and RNA. EMBO J 15: 630-639
21. Hohjoh H, Singer MF (1997) Sequence-specific single-strand RNA-binding protein encoded by the human LINE-1 retrotransposon. EMBO J 16:6034-6043
22. Holmes SE, Dombroski BA, Krebs CM, Boehm CD, Kazazian HH Jr (1994) A new retrotransposable human L1 element from the LRE2 locus on chromosome 1q produces a chimaeric insertion. Nature Genet 7:143-148
23. Horai S, Satta Y, Hayasaka K, Kondo R, Inoue T, Ishida T, Hayashi S, Takahata N (1992) Man's place in Hominoidea revealed by mitochondrial DNA genealogy. J Mol Evol 35:32-43
24. Hutchison CA III, Hardies SC, Loeb DD, Shehee WR, Edgell MH (1989) LINES and related retrotransposons: long interspersed sequences in the eucaryotic genome. In: Berg DE, Howe MM (eds) Mobile DNA. ASM Press, Washington, DC, pp 593-617
25. Jubier-Maurin V, Cuny G, Laurent A, Paquereau L, Roizes G (1992) A new 5′ sequence associated with mouse L1 elements is representative of a major class of L1 termini. Mol Biol Evol 9:41-55
26. Kaplan DJ, Jurka J, Solus JF, Duncan CH (1991) Medium reiteration frequency repetitive sequences in the human genome. Nucleic Acids Res 17:4731-4738
27. Kazazian HH Jr, Wong C, Youssoufian H, Scott AF, Phillips DG, Antonarakis SE (1988) Haemophilia A resulting from de novo insertion of L1 sequences represents a novel mechanism for mutation in man. Nature 332:164-166
28. Kingsmore SF, Giros B, Suh D, Bieniarz M, Caron MG, Seldin MF (1994) Glycine receptor β-subunit gene mutation in spastic mouse associated with LINE-1 element insertion. Nature Genet 7:136-142
29. Loeb DD, Padgett RW, Hardies SC, Shehee WR, Comer MB, Edgell MH, Hutchison CA III (1986) The sequence of a large L1Md element reveals a tandemly repeated 5′ end and several features found in retrotransposons. Mol Cell Biol 6:168-182
30. Mathias SL, Scott AF, Kazazian HH Jr, Boeke JD, Gabriel A (1991) Reverse transcriptase encoded by a human transposable element. Science 254:1808-1810
31. Miki Y, Nishisho I, Horii A, Miyoshi Y, Utsunomiya J, Kinzler K, Vogelstein B, Nakamura Y (1992) Disruption of the APC gene by a retrotransposal insertion of L1 sequence in a colon cancer. Cancer Res 52:643-645
32. Minakami R, Kurose K, Etoh K, Furuhata Y, Hattori M, Sakaki Y (1992) Identification of an internal cis-element essential for the human L1 transcription and a nuclear factor(s) binding to the element. Nucleic Acids Res 20:3139-3145
33. Moran JV, Holmes SE, Naas TP, DeBerardinis RJ, Boeke JD, Kazazian HH Jr (1996) High frequency retrotransposition in cultured mammalian cells. Cell 87:917-927
34. Mulhardt C, Fischer M, Gass P, Simon-Chazzottes D, Guenet JL, Kuhse J, Betz H, Becker C-M (1994) The spastic mouse: aberrant splicing of glycine receptor β subunit mRNA caused by intronic insertion of L1 element. Neuron 13:1003-1015
35. Naas TP, DeBerardinis RJ, Moran JV, Ostertag EM, Kingsmore SF, Seldin MF, Hayashizaki Y, Martin SL, Kazazian HH Jr (1998) An actively-retrotransposing, novel subfamily of mouse L1 elements. EMBO J 17:590-597
36. Narita N, Nishio H, Kitoh Y, Ishikawa Y, Ishikawa Y, Minami R, Nakamura H, Matsuo M (1993) 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. J Clin Invest 91:1862-1867
37. Pascale E, Valle E, Furano AV (1990) Amplification of an ancestral mammalian L1 family of long interspersed repeated DNA occurred just before the murine radiation. Proc Natl Acad Sci USA 87:9481-9485
38. Pascale E, Liu C, Valle E, Usdin K, Furano AV (1993) 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
39. Sakaki Y, Hattori M, Fujita A, Yoshioka K, Kuhara S, Takenaka O (1986) The LINE-1 family of primates may encode a reverse-transcriptase-like protein. Cold Spring Harbor Symp Quant Biol 51:465-469
40. Sambrook J, Fritsch EF, Maniatis T (1989) Molecular cloning: a laboratory manual, 2nd ed. Cold Spring Harbor Laboratory Press, Cold Spring Harbor, NY
41. Sassaman DM, Dombroski BA, Moran JV, Kimberland ML, Naas TP, DeBerardinis RJ, Gabriel A, Swergold GD, Kazazian HH Jr (1997) Many human L1 elements are capable of retrotransposition. Nature Genet 16:37-43
42. Schichman SA, Severynse DM, Edgell MH, Hutchison CA III (1992) Strand-specific LINE-1 transcription in mouse F9 cells originates from the youngest phylogenetic subgroup of LINE-1 elements. J Mol Biol 224:559-574
43. Scott AF, Schmeckpeper BJ, Abdelrazik M, Comey CT, O'Hara B, Rossiter JP, Cooley T, Heath P, Smith KD, Margolet L (1987) Origin of the human L1 elements: proposed progenitor genes deduced from a consensus DNA sequence. Genomics 1:113-125
44. Severynse DM, Hutchison CA, Edgell MH (1992) Identification of transcriptional regulatory activity within the 5′ A-type monomer sequence of the mouse LINE-1 retrotransposon. Mammal Genome 2:41-50
45. Skowronski J, Fanning TG, Singer MF (1988) Unit-length line-1 transcripts in human teratocarcinoma cells. Mol Cell Biol 8:1385-1397
46. Smit AFA (1995a) Structure and evolution of mammalian interspersed repeats, Doctoral dissertation. University of Southern California, Los Angeles
47. Smit A (1995b) The origin of interspersed repeats in the human genome. Curr Opin Genet Dev 6:743-748
48. Smit AFA, Toth G, Riggs AD, Jurka J (1995) Ancestral, mammalian-wide subfamilies of LINE-1 repetitive sequences. J Mol Biol 246: 401-417
49. Soares MB, Schon E, Efstratiadis A (1985) Rat LINE1: the origin and evolution of a family of long interspersed middle repetitive DNA elements. J Mol Evol 22:117-133
50. Swergold GD (1990) Identification, characterization, and cell specificity of a human LINE-1 promoter. Mol Cell Biol 10:6718-6729
51. Vigilant L, Stoneking M, Harpending H, Hawkes K, Wilson AC (1991) African populations and the evolution of human mitochondrial DNA. Science 253:1503-1507