Copy number variation and mosaicism

被引：43

作者：

Notini, A. J. ^{[1
]}

Craig, J. M. ^{[1
]}

White, S. J. ^{[1
]}

机构：

[1] Royal Childrens Hosp, Murdoch Childrens Res Inst, Melbourne, Vic 3052, Australia

来源：

CYTOGENETIC AND GENOME RESEARCH | 2008年 / 123卷 / 1-4期

基金：

英国医学研究理事会;

关键词：

D O I：

10.1159/000184717

中图分类号：

Q2 [细胞生物学];

学科分类号：

071009 ; 090102 ;

摘要：

Mosaicism is the presence of cells within an organism that have a different genetic composition despite deriving from a single zygote. The consequence of this depends on the number and type of cells that are affected as well as the specific DNA involved. There are several diseases where mosaicism is known to occur, but the currently observed frequency is presumably an underestimation due to the difficulty of detecting changes in only a percentage of cells. Recent advances in technology have provided a greater insight into the frequency and mechanisms of mosaicism in all forms. This review will cover the different techniques that can be used for detecting copy number variation (CNV) in mosaic form, and describe some of the insights that different diseases have given on the true frequencies and mechanisms responsible for somatic rearrangements. It will conclude with a discussion of the implications of the recent description of CNV in identical twins, and what remains to be elucidated in the world of mosaic CNV. Copyright (c) 2009 S. Karger AG, Basel

引用

页码：270 / 277

页数：8

共 72 条

[1] The detection of large deletions or duplications in genomic DNA [J].

Armour, JAL ;

Barton, DE ;

Cockburn, DJ ;

Taylor, GR .

HUMAN MUTATION, 2002, 20 (05) :325-337

[2] Measurement of locus copy number by hybridisation with amplifiable probes [J].

Armour, JAL ;

Sismani, C ;

Patsalis, PC ;

Cross, G .

NUCLEIC ACIDS RESEARCH, 2000, 28 (02) :605-609

[3]

BAKKER E, 1995, MUSCLE NERVE, pS39

[4] GERMLINE MOSAICISM AND DUCHENNE MUSCULAR-DYSTROPHY MUTATIONS [J].

BAKKER, E ;

VAN BROECKHOVEN, C ;

BONTEN, EJ ;

VANDEVOOREN, MJ ;

VEENEMA, H ;

VANHUL, W ;

VANOMMEN, GJB ;

VANDENBERGHE, A ;

PEARSON, PL .

NATURE, 1987, 329 (6139) :554-556

[5] GERMINAL MOSAICISM INCREASES THE RECURRENCE RISK FOR NEW DUCHENNE MUSCULAR-DYSTROPHY MUTATIONS [J].

BAKKER, E ;

VEENEMA, H ;

DENDUNNEN, JT ;

VAN BROECKHOVEN, C ;

GROOTSCHOLTEN, PM ;

BONTEN, EJ ;

VANOMMEN, GJB ;

PEARSON, PL .

JOURNAL OF MEDICAL GENETICS, 1989, 26 (09) :553-559

[6] Detection of low-level mosaicism by array CGH in routine diagnostic specimens [J].

Balliff, Blake C. ;

Rorem, Emily A. ;

Sundin, Kyle ;

Lincicum, Matt ;

Gaskin, Shannon ;

Coppinger, Justine ;

Kashork, Catherine D. ;

Shaffer, Lisa G. ;

Bejjani, Bassem A. .

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2006, 140A (24) :2757-2767

[7] Chimerism in the immunohematology laboratory in the molecular biology era [J].

Bluth, Martin H. ;

Reid, Marion E. ;

Manny, Noga .

TRANSFUSION MEDICINE REVIEWS, 2007, 21 (02) :134-146

[8] Phenotypically concordant and discordant monozygotic twins display different DNA copy-number-variation profiles [J].

Bruder, Carl E. G. ;

Piotrowski, Arkadiusz ;

Gijsbers, Antoinet A. C. J. ;

Andersson, Robin ;

Erickson, Stephen ;

de Stahl, Teresita Diaz ;

Menzel, Uwe ;

Sandgren, Johanna ;

von Tell, Desiree ;

Poplawski, Andrzej ;

Crowley, Michael ;

Crasto, Chiquito ;

Partridge, E. Christopher ;

Tiwari, Hemant ;

Allison, David B. ;

Komorowski, Jan ;

van Ommen, Gert-Jan B. ;

Boomsma, Dorret I. ;

Pedersen, Nancy L. ;

den Dunnen, Johan T. ;

Wirdefeldt, Karin ;

Dumanski, Jan P. .

AMERICAN JOURNAL OF HUMAN GENETICS, 2008, 82 (03) :763-771

[9] TOWARDS A MOLECULAR DESCRIPTION OF PULSED-FIELD GEL-ELECTROPHORESIS [J].

BUSTAMANTE, C ;

GURRIERI, S ;

SMITH, SB .

TRENDS IN BIOTECHNOLOGY, 1993, 11 (01) :23-30

[10] Identification of somatically acquired rearrangements in cancer using genome-wide massively parallel paired-end sequencing [J].

Campbell, Peter J. ;

Stephens, Philip J. ;

Pleasance, Erin D. ;

O'Meara, Sarah ;

Li, Heng ;

Santarius, Thomas ;

Stebbings, Lucy A. ;

Leroy, Catherine ;

Edkins, Sarah ;

Hardy, Claire ;

Teague, Jon W. ;

Menzies, Andrew ;

Goodhead, Ian ;

Turner, Daniel J. ;

Clee, Christopher M. ;

Quail, Michael A. ;

Cox, Antony ;

Brown, Clive ;

Durbin, Richard ;

Hurles, Matthew E. ;

Edwards, Paul A. W. ;

Bignell, Graham R. ;

Stratton, Michael R. ;

Futreal, P. Andrew .

NATURE GENETICS, 2008, 40 (06) :722-729

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