Ataxia telangiectasia mutated (ATM) modulates long interspersed element-1 (L1) retrotransposition in human neural stem cells

Proceedings of the National Academy of Sciences of the United States of America

Volumn 108, Issue 51, 2011, Pages 20382-20387

  Coufal, Nicole G ^a   Garcia Perez, Josè Luis ^b   Peng, Grace E ^a,c   Marchetto, Maria C N ^a   Muotri, Alysson R ^d   Mu, Yangling ^a   Carson, Christian T ^e   Macia, Angela ^b   Moran, John V ^f   Gage, Fred H ^a  

^a SALK INSTITUTE FOR BIOLOGICAL STUDIES   (United States)

^b UNIVERSITY OF GRANADA   (Spain)

^c UNIVERSITY OF CALIFORNIA   (United States)

^d UNIVERSITY OF CALIFORNIA SAN DIEGO   (United States)

^e BD BIOSCIENCES   (United States)

^f UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; PROTEIN SERINE THREONINE KINASE;

ANIMAL EXPERIMENT; ANIMAL MODEL; ATAXIA TELANGIECTASIA; BRAIN; CONFERENCE PAPER; CONTROLLED STUDY; DEGENERATIVE DISEASE; DNA DAMAGE; EMBRYO DEVELOPMENT; GENETIC VARIABILITY; GENOME; HUMAN; HUMAN CELL; LONG INTERSPERSED ELEMENT 1; MOUSE; MUTATION; NEURAL STEM CELL; NONHUMAN; PRIORITY JOURNAL; TRANSPOSON;

ATAXIA TELANGIECTASIA; MAMMALIA;

EID: 84855477961     PISSN: 00278424     EISSN: 10916490     Source Type: Journal    
DOI: 10.1073/pnas.1100273108     Document Type: Article

References (40)

1. Ostertag EM, Kazazian HH, Jr. (2001) Biology of mammalian L1 retrotransposons. Annu Rev Genet 35:501-538. (Pubitemid 34032985)
2. 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. (Pubitemid 23077747)
3. Beck CR, et al. (2010) LINE-1 retrotransposition activity in human genomes. Cell 141:1159-1170.
4. Brouha B, et al. (2003) Hot L1s account for the bulk of retrotransposition in the human population. Proc Natl Acad Sci USA 100:5280-5285. (Pubitemid 36542696)
5. Moran JV, et al. (1996) High frequency retrotransposition in cultured mammalian cells. Cell 87:917-927. (Pubitemid 26404290)
6. Hohjoh H, Singer MF (1997) Sequence-specific single-strand RNA binding protein encoded by the human LINE-1 retrotransposon. EMBO J 16:6034-6043. (Pubitemid 27427298)
7. Martin SL, Bushman FD (2001) Nucleic acid chaperone activity of the ORF1 protein from the mouse LINE-1 retrotransposon. Mol Cell Biol 21:467-475. (Pubitemid 32037367)
8. Feng Q, Moran JV, Kazazian HH, Jr., Boeke JD (1996) Human L1 retrotransposon encodes a conserved endonuclease required for retrotransposition. Cell 87:905-916. (Pubitemid 26404289)
9. Mathias SL, Scott AF, Kazazian HH, Jr., Boeke JD, Gabriel A (1991) Reverse transcriptase encoded by a human transposable element. Science 254:1808-1810. (Pubitemid 21917534)
10. Kazazian HH, Jr. (1998) Mobile elements and disease. Curr Opin Genet Dev 8:343-350.
11. Beck CR, Garcia-Perez JL, Badge RM, Moran JV (2011) LINE-1 elements in structural variation and disease. Annu Rev Genomics Hum Genet 12:187-215.
12. Coufal NG, et al. (2009) L1 retrotransposition in human neural progenitor cells. Nature 460:1127-1131.
13. Muotri AR, et al. (2005) Somatic mosaicism in neuronal precursor cells mediated by L1 retrotransposition. Nature 435:903-910. (Pubitemid 40896309)
14. Morrish TA, et al. (2002) DNA repair mediated by endonuclease-independent LINE-1 retrotransposition. Nat Genet 31(2):159-165.
15. Suzuki J, et al. (2009) Genetic evidence that the non-homologous end-joining repair pathway is involved in LINE retrotransposition. PLoS Genet 5:e1000461.
16. Gilbert N, Lutz-Prigge S, Moran JV (2002) Genomic deletions created upon LINE-1 retrotransposition. Cell 110:315-325.
17. Gilbert N, Lutz S, Morrish TA, Moran JV (2005) Multiple fates of L1 retrotransposition intermediates in cultured human cells. Mol Cell Biol 25:7780-7795. (Pubitemid 41170138)
18. Symer DE, et al. (2002) Human l1 retrotransposition is associated with genetic instability in vivo. Cell 110:327-338.
19. Han K, et al. (2005) Genomic rearrangements by LINE-1 insertion-mediated deletion in the human and chimpanzee lineages. Nucleic Acids Res 33(13):4040-4052. (Pubitemid 41487265)
20. Lin C, et al. (2009) Nuclear receptor-induced chromosomal proximity and DNA breaks underlie specific translocations in cancer. Cell 139:1069-1083.
21. Morrish TA, et al. (2007) Endonuclease-independent LINE-1 retrotransposition at mammalian telomeres. Nature 446:208-212. (Pubitemid 46398662)
22. Shiloh Y (2001) ATM (ataxia telangiectasia mutated): Expanding roles in the DNA damage response and cellular homeostasis. Biochem Soc Trans 29:661-666.
23. Barlow C, et al. (1996) Atm-deficient mice: A paradigm of ataxia telangiectasia. Cell 86(1):159-171. (Pubitemid 26259926)
24. Ostertag EM, Prak ET, DeBerardinis RJ, Moran JV, Kazazian HH, Jr. (2000) Determination of L1 retrotransposition kinetics in cultured cells. Nucleic Acids Res 28: 1418-1423. (Pubitemid 30142685)
25. Ostertag EM, et al. (2002) A mouse model of human L1 retrotransposition. Nat Genet 32:655-660. (Pubitemid 35435180)
26. Muotri AR, Zhao C, Marchetto MC, Gage FH (2009) Environmental influence on L1 retrotransposons in the adult hippocampus. Hippocampus 19:1002-1007.
27. Muotri AR, et al. (2010) L1 retrotransposition in neurons is modulated by MeCP2. Nature 468:443-446.
28. Garcia-Perez JL, et al. (2010) Epigenetic silencing of engineered L1 retrotransposition events in human embryonic carcinoma cells. Nature 466:769-773.
29. Wallace NA, Belancio VP, Deininger PL (2008) L1 mobile element expression causes multiple types of toxicity. Gene 419(1-2):75-81.
30. Wei W, et al. (2001) Human L1 retrotransposition: Cis preference versus trans complementation. Mol Cell Biol 21:1429-1439. (Pubitemid 32114989)
31. Uchida N, et al. (2000) Direct isolation of human central nervous system stem cells. Proc Natl Acad Sci USA 97:14720-14725. (Pubitemid 32016642)
32. Garcia-Perez JL, et al. (2007) LINE-1 retrotransposition in human embryonic stem cells. Hum Mol Genet 16:1569-1577. (Pubitemid 47050670)
33. Gasior SL, Wakeman TP, Xu B, Deininger PL (2006) The human LINE-1 retrotransposon creates DNA double-strand breaks. J Mol Biol 357:1383-1393.
34. Topaloglu O, Hurley PJ, Yildirim O, Civin CI, Bunz F (2005) Improved methods for the generation of human gene knockout and knockin cell lines. Nucleic Acids Res 33(18):e158.
35. Moro F, et al. (1995) p53 expression in normal versus transformed mammalian cells. Carcinogenesis 16:2435-2440.
36. Irwin M, et al. (2000) Role for the p53 homologue p73 in E2F-1-induced apoptosis. Nature 407:645-648.
37. Haoudi A, Semmes OJ, Mason JM, Cannon RE (2004) Retrotransposition- competent human LINE-1 induces apoptosis in cancer cells with intact p53. J Biomed Biotechnol 2004(4):185-194. (Pubitemid 40128954)
38. Pavlícek A, Paces J, Zíka R, Hejnar J (2002) Length distribution of long interspersed nucleotide elements (LINEs) and processed pseudogenes of human endogenous retroviruses: Implications for retrotransposition and pseudogene detection. Gene 300(1-2): 189-194. (Pubitemid 35441174)
39. Piskareva O, Schmatchenko V (2006) DNA polymerization by the reverse transcriptase of the human L1 retrotransposon on its own template in vitro. FEBS Lett 580:661-668. (Pubitemid 43089702)
40. Kubo S, et al. (2006) L1 retrotransposition in nondividing and primary human somatic cells. Proc Natl Acad Sci USA 103:8036-8041. (Pubitemid 43801048)