| References |
|
|
Bailey JA,
Carrel L,
Chakravarti A and
Eichler EE
(2000)
From the cover: molecular evidence for a relationship between LINE-1 elements and X chromosome inactivation: the Lyon repeat hypothesis.
Proceedings of the National Academy of Sciences of the USA
97: 66346639.
|
|
|
Bailey JA and
Eichler EE
(2006)
Primate segmental duplications: crucibles of evolution, diversity and disease.
Nature Reviews Genetics
7: 552564.
|
|
|
Belancio VP,
Hedges DJ and
Deininger P
(2006)
LINE-1 RNA splicing and influences on mammalian gene expression.
Nucleic Acids Research
34: 15121521.
|
|
|
Boissinot S,
Entezam A and
Furano AV
(2001)
Selection against deleterious LINE-1-containing loci in the human lineage.
Molecular Biology Evolution
18: 926935.
|
|
|
Bowater RP and
Wells RD
(2000)
The intrinsically unstable life of DNA triplet repeats associated with human hereditary disorders.
Progress in Nucleic Acid Research and Molecular Biology
66: 159202.
|
|
|
Brouha B,
Schustak J,
Badge RM et al.
(2003)
Hot L1s account for the bulk of retrotransposition in the human population.
Proceedings of the National Academy of Sciences of the USA
100: 52805285.
|
|
|
Callinan PA,
Wang J,
Herke SW et al.
(2005)
Alu retrotransposition-mediated deletion.
Journal of Molecular Biology
348: 791800.
|
|
|
Chen JM,
Ferec C and
Cooper DN
(2006)
LINE-1 endonuclease-dependent retrotranspositional events causing human genetic disease: mutation detection bias and multiple mechanisms of target gene disruption.
Journal of Biomedical Biotechnology
2006: 56182.
|
|
|
Chen JM,
Stenson PD,
Cooper DN and
Ferec C
(2005)
A systematic analysis of LINE-1 endonuclease-dependent retrotranspositional events causing human genetic disease.
Human Genetics
117: 411427.
|
|
|
Chimpanzee Sequencing and Analysis Consortium
(2005)
Initial sequence of the chimpanzee genome and comparison with the human genome.
Nature
437(7055): 6987.
|
|
|
Cordaux R,
Hedges DJ,
Herke SW and
Batzer MA
(2006)
Estimating the retrotransposition rate of human Alu elements.
Gene
373: 134137.
|
|
|
Deininger PL and
Batzer MA
(1999)
Alu repeats and human disease.
Molecular Genetics and Metabolism
67: 183193.
|
|
|
Dewannieux M,
Esnault C and
Heidmann T
(2003)
LINE-mediated retrotransposition of marked Alu sequences.
Nature Genetics
35: 4148.
|
|
|
Eichler EE
(1998)
Masquerading repeats: paralogous pitfalls of the human genome.
Genome Research
8: 758762.
|
|
|
Gasior SL,
Wakeman TP,
Xu B and
Deininger PL
(2006)
The human LINE-1 retrotransposon creates DNA double-strand breaks.
Journal of Molecular Biology
357: 13831393.
|
|
|
Gebow D,
Miselis N and
Liber HL
(2000)
Homologous and nonhomologous recombination resulting in deletion: effects of p53 status, microhomology, and repetitive DNA length and orientation.
Molecular and Cellular Biology
20: 40284035.
|
|
|
Han K,
Sen SK,
Wang J et al.
(2005)
Genomic rearrangements by LINE-1 insertion-mediated deletion in the human and chimpanzee lineages.
Nucleic Acids Research
33: 40404052.
|
|
|
Hedges DJ and
Deininger PL
(2007)
Inviting instability: transposable elements, double-strand breaks, and the maintenance of genome integrity.
Mutation Research
616(12): 4659.
|
|
|
Kazazian HH Jr and
Moran JV
(1998)
The impact of L1 retrotransposons on the human genome.
Nature Genetics
19: 1924.
|
|
|
Lander ES,
Linton LM,
Birren B et al.
(2001)
Initial sequencing and analyses of the human genome.
Nature
409: 860921.
|
|
|
Mine M,
Chen JM,
Brivet M et al.
(2007)
A large genomic deletion in the PDHX gene caused by the retrotranspositional insertion of a full-length LINE-1 element.
Human Mutation
28: 137142.
|
|
|
Muotri AR,
Chu VT,
Marchetto MC et al.
(2005)
Somatic mosaicism in neuronal precursor cells mediated by L1 retrotransposition.
Nature
435: 903910.
|
|
|
Ostertag EM,
Goodier JL,
Zhang Y and
Kazazian HH Jr
(2003)
SVA elements are nonautonomous retrotransposons that cause disease in humans.
American Journal of Human Genetics
73: 14441451.
|
|
|
Pace JK 2nd and
Feschotte C
(2007)
The evolutionary history of human DNA transposons: evidence for intense activity in the primate lineage.
Genome Research
17: 422432.
|
|
|
Reiter LT,
Liehr T,
Rautenstrauss B,
Robertson HM and
Lupski JR
(1999)
Localization of mariner DNA transposons in the human genome by PRINS.
Genome Research
9: 839843.
|
|
|
Rudiger NS,
Gregersen N and
Kielland-Brandt MC
(1995)
One short well conserved region of Alu-sequences is involved in human gene rearrangements and has homology with prokaryotic chi.
Nucleic Acids Research
23: 256260.
|
|
|
Sorek R,
Lev-Maor G,
Reznik M et al.
(2004)
Minimal conditions for exonization of intronic sequences: 5¢ splice site formation in alu exons.
Molecular Cell
14: 221231.
|
|
|
Urnovitz HB and
Murphy WH
(1996)
Human endogenous retroviruses: nature, occurrence, and clinical implications in human disease.
Clinical Microbiology Reviews
9: 7299.
|
|
|
other
van den Hurk JA,
Meij IC,
Del Carmen Seleme M et al.
(2007) L1 retrotransposition can occur early in human embryonic development. Human Molecular Genetics. May 4. [Epub ahead of print]
|
|
|
Wang H,
Xing J,
Grover D et al.
(2006)
Emergence of primate genes by retrotransposon-mediated sequence transduction.
Proceedings of the National Academy of Sciences of the USA
103: 1760817613.
|
| Further Reading |
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book
Craig NL,
Craigie R,
Gellert M and
Lambowitz AM (eds)
(2002)
Mobile DNA II.
Washington, DC:
American Society for Microbiology.
|
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|
Babushok DV and
Kazazian HH Jr
(2007)
Progress in understanding the biology of the human mutagen LINE-1.
Human Mutation
28: 527539.
|
|
|
Batzer MA and
Deininger PL
(2002)
Alu repeats and human genomic diversity.
Nature Reviews Genetics
3: 370379.
|
|
|
Hu X and
Worton RG
(1992)
Partial gene duplication as a cause of human disease.
Human Mutation
1: 312.
|
|
|
Ji Y,
Eichler EE,
Schwartz S and
Nicholls RD
(2000)
Structure of chromosomal duplicons and their role in mediating human genomic disorders.
Genome Research
10: 597610.
|
|
|
Kazazian HHJ
(1998)
Mobile elements and disease.
Current Opinion in Genetics and Development
8: 343350.
|
|
|
Moran JV,
Holmes SE,
Naas TP et al.
(1996)
High frequency retrotransposition in cultured mammalian cells.
Cell
87: 917927.
|