Mobilizing diversity: transposable element insertions in genetic variation and disease.
Transposable elements (TEs) comprise a large fraction of mammalian genomes. A number of these elements are actively jumping in our genomes today. As a consequence, these insertions provide a source of genetic variation and, in rare cases, these events cause mutations that lead to disease. Yet, the extent to which these elements impact their host genomes is not completely understood. This review will summarize our current understanding of the mechanisms underlying transposon regulation and the contribution of TE insertions to genetic diversity in the germline and in somatic cells. Finally, traditional methods and emerging technologies for identifying transposon insertions will be considered.
O'Donnell
Kathryn A
KA
Department of Molecular Biology and Genetics, The Johns Hopkins University School of Medicine, Baltimore, MD, USA. kodonnel@jhmi.edu.
Burns
Kathleen H
KH
Hum Mol Genet. 1998 Jul;7(7):1129-32
9618170
Science. 2001 Aug 10;293(5532):1070-4
11498574
Nat Struct Mol Biol. 2006 Sep;13(9):763-71
16936727
Cell. 2008 Oct 3;135(1):23-35
18854152
Br J Cancer. 1999 Jul;80(9):1312-21
10424731
Cancer. 1994 May 1;73(9):2333-6
8168038
Nature. 2005 Jun 16;435(7044):903-10
15959507
Cancer Res. 1996 Dec 15;56(24):5698-703
8971178
Nature. 2009 Aug 27;460(7259):1127-31
19657334
Proc Natl Acad Sci U S A. 2007 Apr 17;104(16):6714-9
17428915
Cell. 2010 Jun 25;141(7):1171-82
20602999
Nature. 1998 Aug 20;394(6695):744-51
9723614
Mod Pathol. 2007 Jul;20(7):802-10
17483816
Jpn J Clin Oncol. 2000 Jul;30(7):306-9
11007163
Dev Cell. 2007 Apr;12(4):503-14
17395546
Am J Hum Genet. 2003 Apr;72(4):823-38
12632328
PLoS Genet. 2009 Sep;5(9):e1000635
19730684
Hum Mutat. 2009 Feb;30(2):204-11
18726952
J Pathol. 2007 Feb;211(3):269-77
17139617
Genes Dev. 2009 Jun 1;23(11):1303-12
19487571
Nature. 2004 May 20;429(6989):314-8
15152256
Nature. 1988 Mar 10;332(6160):164-6
2831458
Trends Genet. 1997 Aug;13(8):335-40
9260521
Genome Res. 2008 May;18(5):717-28
18340040
Gene. 2006 May 24;373:138-44
16527433
Cell. 1993 Feb 26;72(4):595-605
7679954
Genesis. 2008 Jul;46(7):373-83
18615728
Clin Immunol. 1999 Jan;90(1):28-37
9884350
Cancer Biol Ther. 2006 Aug;5(8):993-1001
16775427
Gene. 1996 Oct 17;176(1-2):39-44
8918229
Cell. 2010 Jun 25;141(7):1159-70
20602998
Am J Hum Genet. 1999 Feb;64(2):446-61
9973282
Cell. 1996 Nov 29;87(5):905-16
8945517
Nature. 2005 Jul 14;436(7048):221-6
16015321
Gene. 2008 Mar 31;411(1-2):38-45
18261861
Nat Rev Genet. 2008 May;9(5):397-405
18368054
PLoS One. 2007 May 02;2(5):e399
17476321
Nat Biotechnol. 2009 Mar;27(3):264-74
19234449
Am J Hum Genet. 2006 Apr;78(4):671-9
16532396
Nat Rev Genet. 2009 Oct;10(10):691-703
19763152
Bioessays. 2006 Sep;28(9):913-22
16937363
Nat Genet. 1994 Jun;7(2):143-8
7920631
Am J Hum Genet. 2002 Aug;71(2):312-26
12070800
Int Rev Cytol. 1975;43:229-80
770367
Prostate. 1999 May 15;39(3):166-74
10334105
Proc Natl Acad Sci U S A. 2006 Dec 5;103(49):18662-7
17124176
Mol Cell Biol. 2007 Sep;27(18):6469-83
17562864
Genome Res. 2008 Dec;18(12):1875-83
18836035
Nature. 2004 Sep 2;431(7004):96-9
15318244
Development. 2008 Jan;135(1):3-9
18032451
Genome Res. 2001 Dec;11(12):2050-8
11731495
Oncogene. 2008 Jan 10;27(3):404-8
17621273
Nucleic Acids Res. 2006 Mar 22;34(5):1512-21
16554555
Nature. 2004 Dec 23;432(7020):995-1001
15616554
Cell. 2007 Mar 23;128(6):1089-103
17346786
BMC Genomics. 2009 Nov 16;10:530
19917129
Cancer Res. 1992 Feb 1;52(3):643-5
1310068
Nature. 2004 May 27;429(6990):382-8
15164055
Hum Mol Genet. 2007 Jul 1;16(13):1587-92
17483097
BMC Genomics. 2010 Jun 30;11:410
20591181
Nature. 2008 May 1;453(7191):56-64
18451855
Science. 2007 Nov 2;318(5851):761-4
17975059
Genome Res. 2000 Oct;10(10):1496-508
11042149
Cancer Lett. 2007 Mar 18;247(2):204-12
16759797
Nature. 2005 Jul 14;436(7048):272-6
16015333
Biochem Soc Trans. 2007 Jun;35(Pt 3):637-42
17511669
Genome Res. 2010 Sep;20(9):1262-70
20488934
Oncogene. 2005 Nov 3;24(48):7213-23
16170379
Nucleic Acids Res. 2005 Feb 08;33(3):846-56
15701756
Cell. 2009 Feb 20;136(4):656-68
19239887
Nat Genet. 2003 Dec;35(4):363-6
14625551
J Clin Invest. 1993 May;91(5):1862-7
8387534
Genome Res. 2008 Mar;18(3):343-58
18256243
Proc Natl Acad Sci U S A. 2006 May 23;103(21):8036-41
16698926
Annu Rev Immunol. 2008;26:317-53
18304004
Annu Rev Genet. 2001;35:501-38
11700292
Cell. 1998 Aug 21;94(4):463-70
9727489
Dev Cell. 2008 Aug;15(2):285-97
18694567
Cold Spring Harb Symp Quant Biol. 2004;69:397-402
16117673
Cell. 2007 Apr 6;129(1):69-82
17418787
Genome Dyn. 2006;1:104-115
18724056
Cell. 2007 Apr 6;129(1):37-44
17418784
Genome Res. 2009 Sep;19(9):1516-26
19439515
Nature. 1991 Oct 31;353(6347):864-6
1719426
Trends Genet. 2007 Apr;23(4):183-91
17331616
Science. 2007 Mar 16;315(5818):1587-90
17322028
Genes Chromosomes Cancer. 2002 Sep;35(1):58-65
12203790
Hum Mol Genet. 2006 Aug 1;15(15):2324-34
16787967
Nature. 2001 Feb 15;409(6822):860-921
11237011
Cold Spring Harb Symp Quant Biol. 2004;69:119-24
16117640
Int J Colorectal Dis. 2004 Mar;19(2):95-101
14534800
Science. 2007 Oct 19;318(5849):420-6
17901297
Nat Rev Genet. 2002 May;3(5):370-9
11988762
Biotechniques. 2004 Nov;37(5):750, 752
15560130
Nucleic Acids Res. 2010 Jul;38(12):3909-22
20215437
Anticancer Res. 1992 Mar-Apr;12(2):559-63
1580572
Genetics. 2004 Oct;168(2):933-51
15514065
Semin Cancer Biol. 2010 Aug;20(4):211-21
20307669
Cell. 2010 Jun 25;141(7):1253-61
20603005
Cell. 2009 Dec 11;139(6):1069-83
19962179
Genes Dev. 2008 Apr 1;22(7):908-17
18381894
EMBO J. 2002 Nov 1;21(21):5899-910
12411507
Proc Natl Acad Sci U S A. 2003 Apr 29;100(9):5280-5
12682288
Science. 2009 Mar 27;323(5922):1747-50
19251594
J Mol Biol. 2003 Feb 28;326(4):1127-46
12589758