Allelic Heterogeneity in LINE-1 Retrotransposition Activity

American Journal of Human Genetics

Volumn 73, Issue 6, 2003, Pages 1431-1437

  Lutz, Sheila M ^a   Vincent, Bethaney J ^b   Kazazian Jr , Haig H ^c   Batzer, Mark A ^b   Moran, John V ^a  

^a UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

^b LOUISIANA STATE UNIVERSITY   (United States)

^c UNIVERSITY OF PENNSYLVANIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; CYSTEINE;

AMINO ACID SUBSTITUTION; ARTICLE; CELL CULTURE; CHIMERA; DNA TRANSPOSITION; GENE FREQUENCY; GENE INSERTION; GENE MUTATION; HELA CELL; HEMOPHILIA A; HUMAN; HUMAN CELL; LONG INTERSPERSED ELEMENT 1; NUCLEOTIDE SEQUENCE; OPEN READING FRAME; PRIORITY JOURNAL; PROTEIN MOTIF; RETROPOSON;

INSERTION SEQUENCES;

EID: 0347362520     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/379744     Document Type: Article

References (38)

1. Boeke JD (1997) LINEs and Alus - the poly (A) connection. Nat Genet 16:6-7
2. Boissinot S, Chevret P, Furano AV (2000) L1 (LINE-1) retrotransposon evolution and amplification in recent human history. Mol Biol Evol 17:915-928
3. Brouha B, Schustak J, Badge RM, Lutz-Prigge S, Farley AH, Moran JV, Kazazian HH Jr (2003) Hot L1s account for the bulk of retrotransposition in the human population. Proc Natl Acad Sci USA 100:5280-5285
4. Choi Y, Ishiguro N, Shinagawa M, Kim C-J, Okamoto Y, Minami S, Ogihara K (1999) Molecular structure of canine LINE-1 elements in canine transmissible venereal tumor. Anim Genet 30:51-53
5. Dewannieux D, Esnault C, Heidmann T (2003) LINE-mediated retrotransposition of marked Alu sequences. Nat Genet 35:41-48
6. Dombroski BA, Mathias SL, Nanthakumar E, Scott AF, Kazazian HH Jr (1991) Isolation of an active human transposable element. Science 254:1805-1808
7. 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
8. Ejima Y, Yang L (2003) Trans mobilization of genomic DNA as a mechanism for retrotransposon-mediated exon shuffling. Hum Mol Genet 12:1321-1328
9. Esnault CJ, Maestre J, Heidmann T (2000) Human LINE-1 retrotransposons generate processed pseudogenes. Nat Genet 24:363-367
10. Fanning T, Singer MF (1987) The LINE-1 DNA sequences in four mammalian orders predict proteins that conserve homologies to retrovirus proteins. Nucleic Acids Res 15:2251-2260
11. Feng Q, Moran JV, Kazazian HH Jr, Boeke JD (1996) Human L1 retrotransposon encodes a conserved endonuclease required for retrotransposition. Cell 87:905-916
12. Gilbert N, Lutz-Prigge S, Moran JV (2002) Genomic deletions created upon LINE-1 retrotransposition. Cell 110:315-325
13. Goodier JL, Ostertag, EM, Kazazian HH Jr (2000) Transduction of 3′ flanking sequences is common in L1 retrotransposition. Hum Mol Genet 9:653-657
14. Guo SW, Thompson EA (1992) A Monte Carlo method for combined segregation and linkage analysis. Am J Hum Genet 51:1111-1126
15. Hohjoh H, Singer MF (1996) Cytoplasmic ribonucleoprotein complexes containing human LINE-1 protein and RNA. EMBO J 15:630-639
16. _ (1997) Sequence-specific single-strand RNA binding protein encoded by the human LINE-1 retrotransposon. EMBO J 16:6034-6043
17. 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. Nat Genet 7:143-148
18. Holmes SE, Singer MF, Swergold GD (1992) Studies on p40, the leucine zipper motif-containing protein encoded by the first open reading frame of an active human LINE-1 transposable element. J Biol Chem 267:19765-19768
19. 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
20. Kubo Y, Okazaki S, Anzai T, Fujiwara H (2001) Structural and phylogenetic analysis of TRAS, telomeric repeat-specific non-LTR retrotransposon families in Lepidopteran insects. Mol Biol Evol 18:848-857
21. Lander ES, Linton LM, Birren B, Nusbaum C, Zody MC, Baldwin J, Devon K, et al (2001) Initial sequencing and analysis of the human genome. Nature 409:860-921
22. Luan DD, Eickbush TH (1995) RNA template requirements for target DNA-primed reverse transcription by the R2 retrotransposable element. Mol Cell Biol 15:3882-3891
23. Luan DD, Korman MH, Jakubczak JL, Eickbush TH (1993) Reverse transcription of R2Bm RNA is primed by a nick at the chromosomal target site: a mechanism for non-LTR retrotransposition. Cell 72:595-605
24. Mathias SL, Scott AF, Kazazian HH Jr, Boeke JD, Gabriel A (1991) Reverse transcriptase encoded by a human transposable element. Science 254:1808-1810
25. Moran JV, DeBerardinis RJ, Kazazian HH Jr (1999) Exon shuffling by L1 retrotransposition. Science 283:1530-1534
26. Moran JV, Gilbert N (2002) Mammalian LINE-1 retrotransposons and related elements. In: Craig N, Craggie R, Gellert M, Lambowitz A (eds) Mobile DNA II. ASM Press, Washington, DC, pp 836-869
27. 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
28. Myers JS, Vincent BJ, Udall H, Watkins WS, Morrish TA, Kilroy GE, Swergold GD, Henke J, Henke L, Moran JV, Jorde LB, Batzer MA (2002) A comprehensive analysis of recently integrated human Ta L1 elements. Am J Hum Genet 71:312-326
29. Ostertag EM, Kazazian HH Jr (2001) Biology of mammalian L1 retrotransposons. Annu Rev Genet 35:501-538
30. Ovchinnikov I, Troxel AB, Swergold GD (2001) Genomic characterization of recent human LINE-1 insertions: evidence supporting random insertion. Genome Res 11:2050-2058
31. Pickeral OK, Makalowski W, Boguski MS, Boeke JD (2000) Frequent human genomic DNA transduction driven by LINE-1 retrotransposition. Genome Res 10:411-415
32. 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. Nat Genet 16:37-43
33. 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
34. Sheen F, Sherry ST, Risch GM, Robichaux M, Nasidze I, Stoneking M, Batzer MA, Swergold GD (2000) Reading between the LINEs: human genomic variation induced by LINE-1 retrotransposition. Genome Res 10:1496-1508
35. Skowronski J, Fanning TG, Singer MF (1988) Unit-length line-1 transcripts in human teratocarcinoma cells. Mol Cell Biol 8:1385-1397
36. Smit AFA (1996) The origin of interspersed repeats in the human genome. Curr Opin Genet Dev 6:743-748
37. Wei W, Gilbert N, Ooi SL, Lawler JF, Ostertag EM, Kazazian HH, Boeke JD, Moran JV (2001) Human L1 retrotransposition: cis preference versus trans complementation. Mol Cell Biol 21:1429-1439
38. Wei W, Morrish TA, Alisch RS, Moran JV (2000) A transient assay reveals that cultured human cells can accommodate multiple LINE-1 retrotransposition events. Anal Biochem 284:435-438