Which transposable elements are active in the human genome?

被引：332

作者：

Mills, Ryan E.

Bennett, E. Andrew

Iskow, Rebecca C.

Devine, Scott E. ^{[1
]}

机构：

[1] Emory Univ, Sch Med, Dept Biochem, Atlanta, GA 30322 USA

[2] Emory Univ, Sch Med, Ctr Bioinformat, Atlanta, GA 30322 USA

[3] Emory Univ, Sch Med, Genet & Mol Biol Grad Program, Atlanta, GA 30322 USA

来源：

TRENDS IN GENETICS | 2007年 / 23卷 / 04期

关键词：

D O I：

10.1016/j.tig.2007.02.006

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Although a large proportion (44%) of the human genome is occupied by transposons and transposon-like repetitive elements, only a small proportion (< 0.05%) of these elements remain active today. Recent evidence indicates that similar to 35-40 subfamilies of Alu, L1 and SVA elements (and possibly HERV-K elements) remain actively mobile in the human genome. These active transposons are of great interest because they continue to produce genetic diversity in human populations and also cause human diseases by integrating into genes. In this review, we examine these active human transposons and explore mechanistic factors that influence their mobilization.

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页码：183 / 191

页数：9

相关论文

共 99 条

[61]

Mustajoki S, 1999, HUM MUTAT, V13, P431, DOI 10.1002/(SICI)1098-1004(1999)13:6<431::AID-HUMU2>3.0.CO

[62]

2-Y

[63] A comprehensive analysis of recently integrated human Ta L1 elements [J].

Myers, JS ;

Vincent, BJ ;

Udall, H ;

Watkins, WS ;

Morrish, TA ;

Kilroy, GE ;

Swergold, GD ;

Henke, J ;

Henke, L ;

Moran, JV ;

Jorde, LB ;

Batzer, MA .

AMERICAN JOURNAL OF HUMAN GENETICS, 2002, 71 (02) :312-326

[64] 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].

NARITA, N ;

NISHIO, H ;

KITOH, Y ;

ISHIKAWA, Y ;

ISHIKAWA, Y ;

MINAMI, R ;

NAKAMURA, H ;

MATSUO, M .

JOURNAL OF CLINICAL INVESTIGATION, 1993, 91 (05) :1862-1867

[65] De novo Alu-element insertions in FGFR2 identify a distinct pathological basis for Apert syndrome [J].

Oldridge, M ;

Zackai, EH ;

McDonald-McGinn, DM ;

Iseki, S ;

Morriss-Kay, GM ;

Twigg, RF ;

Johnson, D ;

Wall, SA ;

Jiang, W ;

Theda, C ;

Jabs, EW ;

Wilkie, AOM .

AMERICAN JOURNAL OF HUMAN GENETICS, 1999, 64 (02) :446-461

[66] SVA elements are nonautonomous retrotransposons that cause disease in humans [J].

Ostertag, EM ;

Goodier, JL ;

Zhang, Y ;

Kazazian, HH .

AMERICAN JOURNAL OF HUMAN GENETICS, 2003, 73 (06) :1444-1451

[67] Biology of mammalian L1 retrotransposons [J].

Ostertag, EM ;

Kazazian, HH .

ANNUAL REVIEW OF GENETICS, 2001, 35 :501-538

[68] Analysis of the human Alu Ya-lineage [J].

Otieno, AC ;

Carter, AB ;

Hedges, DJ ;

Walker, JA ;

Ray, DA ;

Garber, RK ;

Anders, BA ;

Stoilova, N ;

Laborde, ME ;

Fowlkes, JD ;

Huang, CH ;

Perodeau, B ;

Batzer, MA .

JOURNAL OF MOLECULAR BIOLOGY, 2004, 342 (01) :109-118

[69] Analysis of newly identified low copy AluYj subfamily [J].

Park, ES ;

Huh, JW ;

Kim, TH ;

Kwak, KD ;

Kim, W ;

Kim, HS .

GENES & GENETIC SYSTEMS, 2005, 80 (06) :415-422

[70] Unusual mutations in Btk: An insertion, a duplication, an inversion, and four large deletions [J].

Rohrer, J ;

Minegishi, Y ;

Richter, D ;

Eguiguren, J ;

Conley, ME .

CLINICAL IMMUNOLOGY, 1999, 90 (01) :28-37

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