Major influence of repetitive elements on disease-associated copy number variants (CNVs)

被引：15

作者：

Cardoso, Ana R. ^{[1
,2
,3
]}

Oliveira, Manuela ^{[1
,2
,3
]}

Amorim, Antonio ^{[1
,2
,3
]}

Azevedo, Luisa ^{[1
,2
,3
]}

机构：

[1] Univ Porto, Inst Invest & Inovacao Saude, Rua Alfredo Allen 208, P-4200135 Oporto, Portugal

[2] Univ Porto, IPATIMUP Inst Mol Pathol & Immunol, Rua Julio Amaral de Carvalho 45, P-4200135 Oporto, Portugal

[3] Univ Porto, Dept Biol, Fac Sci, Rua Campo Alegre S-N, P-4169007 Oporto, Portugal

来源：

HUMAN GENOMICS | 2016年 / 10卷

关键词：

Copy number variants (CNVs); Genetic diseases; Genomic structural variation; Low copy repeats; Retrotransposons; LINE; SINE; Non-allelic homologous recombination (NAHR); NONALLELIC HOMOLOGOUS RECOMBINATION; 3Q29 MICRODELETION SYNDROME; HUMAN Y-CHROMOSOME; GENOMIC REARRANGEMENTS; MENTAL-RETARDATION; JUVENILE NEPHRONOPHTHISIS; AZFA REGION; GENE; MECHANISMS; DUPLICATION;

D O I：

10.1186/s40246-016-0088-9

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Copy number variants (CNVs) are important contributors to the human pathogenic genetic diversity as demonstrated by a number of cases reported in the literature. The high homology between repetitive elements may guide genomic stability which will give rise to CNVs either by non-allelic homologous recombination (NAHR) or non-homologous end joining (NHEJ). Here, we present a short guide based on previously documented cases of disease-associated CNVs in order to provide a general view on the impact of repeated elements on the stability of the genomic sequence and consequently in the origin of the human pathogenic variome.

引用

页数：6

共 59 条

[1] Chromosome breakage in the Prader-Willi and Angelman syndromes involves recombination between large, transcribed repeats at proximal and distal breakpoints [J].

Amos-Landgraf, JM ;

Ji, YG ;

Gottlieb, W ;

Depinet, T ;

Wandstrat, AE ;

Cassidy, SB ;

Driscoll, DJ ;

Rogan, PK ;

Schwartz, S ;

Nicholls, RD .

AMERICAN JOURNAL OF HUMAN GENETICS, 1999, 65 (02) :370-386

[2] Evolutionary mechanisms shaping the genomic structure of the Williams-Beuren syndrome chromosomal region at human 7q11.23 [J].

Antonell, A ;

de Luis, O ;

Domingo-Roura, X ;

Pérez-Jurado, LA .

GENOME RESEARCH, 2005, 15 (09) :1179-1188

[3] New polymorphic sites within ornithine transcarbamylase gene: population genetics studies and implications for diagnosis [J].

Azevedo, L ;

Stolnaja, L ;

Tietzeova, E ;

Hrebicek, M ;

Hruba, E ;

Vilarinho, L ;

Amorim, A ;

Dvorakova, L .

MOLECULAR GENETICS AND METABOLISM, 2003, 78 (02) :152-157

[4] Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication [J].

Ballif, Blake C. ;

Theisen, Aaron ;

Coppinger, Justine ;

Gowans, Gordon C. ;

Hersh, Joseph H. ;

Madan-Khetarpal, Suneeta ;

Schmidt, Karen R. ;

Tervo, Raymond ;

Escobar, Luis F. ;

Friedrich, Christopher A. ;

McDonald, Marie ;

Campbell, Lindsey ;

Ming, Jeffrey E. ;

Zackai, Elaine H. ;

Bejjani, Bassem A. ;

Shaffer, Lisa G. .

MOLECULAR CYTOGENETICS, 2008, 1 (1)

[5] Alu repeats and human genomic diversity [J].

Batzer, MA ;

Deininger, PL .

NATURE REVIEWS GENETICS, 2002, 3 (05) :370-379

[6] Nonrecurrent MECP2 duplications mediated by genomic architecture-driven DNA breaks and break-induced replication repair [J].

Bauters, Marijke ;

Van Esch, Hilde ;

Friez, Michael J. ;

Boespflug-Tanguy, Odile ;

Zenker, Martin ;

Vianna-Morgante, Angela M. ;

Rosenberg, Carla ;

Ignatius, Jaakko ;

Raynaud, Martine ;

Hollanders, Karen ;

Govaerts, Karen ;

Vandenreijt, Kris ;

Niel, Florence ;

Blanc, Pierre ;

Stevenson, Roger E. ;

Fryns, Jean-Pierre ;

Marynen, Peter ;

Schwartz, Charles E. ;

Froyen, Guy .

GENOME RESEARCH, 2008, 18 (06) :847-858

[7] Mutational mechanisms of Williams-Beuren syndrome deletions [J].

Bayés, M ;

Magano, LF ;

Rivera, N ;

Flores, R ;

Jurado, LAP .

AMERICAN JOURNAL OF HUMAN GENETICS, 2003, 73 (01) :131-151

[8] Oligophrenin 1 (OPHN1) gene mutation causes syndromic X-linked mental retardation with epilepsy, rostral ventricular enlargement and cerebellar hypoplasia [J].

Bergmann, C ;

Zerres, K ;

Senderek, J ;

Rudnik-Schöneborn, S ;

Eggermann, T ;

Häusler, M ;

Mull, M ;

Ramaekers, VT .

BRAIN, 2003, 126 :1537-1544

[9] The Alu-Rich Genomic Architecture of SPAST Predisposes to Diverse and Functionally Distinct Disease-Associated CNV Alleles [J].

Boone, Philip M. ;

Yuan, Bo ;

Campbell, Ian M. ;

Scul, Jennifer C. ;

Withers, Marjorie A. ;

Baggett, Brett C. ;

Beck, Christine R. ;

Shaw, Christine J. ;

Stankiewicz, Pawel ;

Moretti, Paolo ;

Goodwin, Wendy E. ;

Hein, Nichole ;

Fink, John K. ;

Seong, Moon-Woo ;

Seo, Soo Hyun ;

Park, Sung Sup ;

Karbassi, Izabela D. ;

Batish, Sat Dev ;

Ordonez-Ugalde, Andres ;

Quintans, Beatriz ;

Sobrido, Maria-Jesus ;

Stemmler, Susanne ;

Lupski, James R. .

AMERICAN JOURNAL OF HUMAN GENETICS, 2014, 95 (02) :143-161

[10] Specific Alu elements involved in a significant percentage of copy number variations of the STK11 gene in patients with Peutz-Jeghers syndrome [J].

Borun, Pawel ;

De Rosa, Marina ;

Nedoszytko, Boguslaw ;

Walkowiak, Jaroslaw ;

Plawski, Andrzej .

FAMILIAL CANCER, 2015, 14 (03) :455-461

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