Genetic architecture of reciprocal CNVs

被引：42

作者：

Golzio, Christelle ^{[1
]}

Katsanis, Nicholas ^{[1
,2
,3
]}

机构：

[1] Duke Univ, Ctr Human Dis Modeling, Durham, NC 27710 USA

[2] Duke Univ, Dept Pediat, Durham, NC 27710 USA

[3] Duke Univ, Dept Cell Biol, Durham, NC 27710 USA

来源：

CURRENT OPINION IN GENETICS & DEVELOPMENT | 2013年 / 23卷 / 03期

关键词：

COPY-NUMBER VARIATION; 3Q29 MICRODELETION SYNDROME; SMITH-MAGENIS SYNDROME; MENTAL-RETARDATION; 17Q21.31; MICRODUPLICATION; DUPLICATION SYNDROMES; GENOMIC DISORDERS; DIGEORGE-SYNDROME; WILLIAMS-SYNDROME; 22Q11.2; DELETION;

D O I：

10.1016/j.gde.2013.04.013

中图分类号：

Q2 [细胞生物学];

学科分类号：

071009 ; 090102 ;

摘要：

Copy number variants (CNVs) represent a frequent type of lesion in human genetic disorders that typically affects numerous genes simultaneously. This has raised the challenge of understanding which genes within a CNV drive clinical phenotypes. Although CNVs can arise by multiple mechanisms, a subset is driven by local genomic architecture permissive to recombination events that can lead to both deletions and duplications. Phenotypic analyses of patients with such reciprocal CNVs have revealed instances in which the phenotype is either identical or mirrored; strikingly, molecular studies have shown that such phenotypes are often driven by reciprocal dosage defects of the same transcript. Here we explore how these observations can help the dissection of CNVs and inform the genetic architecture of CNV-induced disorders.

引用

页码：240 / 248

页数：9

共 121 条

[21] DELETIONS AND MICRODELETIONS OF 22Q11.2 IN VELO-CARDIO-FACIAL SYNDROME [J].

DRISCOLL, DA ;

SPINNER, NB ;

BUDARF, ML ;

MCDONALDMCGINN, DM ;

ZACKAI, EH ;

GOLDBERG, RB ;

SHPRINTZEN, RJ ;

SAAL, HM ;

ZONANA, J ;

JONES, MC ;

MASCARELLO, JT ;

EMANUEL, BS .

AMERICAN JOURNAL OF MEDICAL GENETICS, 1992, 44 (02) :261-268

[22] Gender, genotype, and phenotype differences in Smith-Magenis syndrome: a meta-analysis of 105 cases [J].

Edelman, E. A. ;

Girirajan, S. ;

Finucane, B. ;

Patel, P. I. ;

Lupski, J. R. ;

Smith, A. C. M. ;

Elsea, S. H. .

CLINICAL GENETICS, 2007, 71 (06) :540-550

[23] Essential functions of the Williams-Beuren syndrome-associated TFII-I genes in embryonic development [J].

Enkhmandakh, Badam ;

Makeyev, Aleksandr V. ;

Erdenechimeg, Lkhamsuren ;

Ruddle, Frank H. ;

Chimge, Nyam-Osor ;

Tussie-Luna, Maria Isabel ;

Roy, Ananda L. ;

Bayarsaihan, Dashzeveg .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2009, 106 (01) :181-186

[24] Microduplication 22q11.2, an emerging syndrome: Clinical, cytogenetic, and molecular analysis of thirteen patients [J].

Ensenauer, RE ;

Adeyinka, A ;

Flynn, HC ;

Michels, VV ;

Lindor, NM ;

Dawson, DB ;

Thorland, EC ;

Lorentz, CP ;

Goldstein, JL ;

McDonald, MT ;

Smith, WE ;

Simon-Fayard, E ;

Alexander, AA ;

Kulharya, AS ;

Ketterling, RP ;

Clark, RD ;

Jalal, SM .

AMERICAN JOURNAL OF HUMAN GENETICS, 2003, 73 (05) :1027-1040

[25] Rare copy number variations in congenital heart disease patients identify unique genes in left-right patterning [J].

Fakhro, Khalid A. ;

Choi, Murim ;

Ware, Stephanie M. ;

Belmont, John W. ;

Towbin, Jeffrey A. ;

Lifton, Richard P. ;

Khokha, Mustafa K. ;

Brueckner, Martina .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2011, 108 (07) :2915-2920

[26] LIM-kinase1 hemizygosity implicated in impaired visuospatial constructive cognition [J].

Frangiskakis, JM ;

Ewart, AK ;

Morris, CA ;

Mervis, CB ;

Bertrand, J ;

Robinson, BF ;

Klein, BP ;

Ensing, GJ ;

Everett, LA ;

Green, ED ;

Proschel, C ;

Gutowski, NJ ;

Noble, M ;

Atkinson, DL ;

Odelberg, SJ ;

Keating, MT .

CELL, 1996, 86 (01) :59-69

[27] A novel microdeletion at 16p11.2 harbors candidate genes for aortic valve development, seizure disorder, and mild mental retardation [J].

Ghebranious, Nader ;

Giampietro, Philip F. ;

Wesbrook, Frederic P. ;

Rezkana, Shereif H. .

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2007, 143A (13) :1462-1471

[28] How much is too much?: Phenotypic consequences of Rai1 overexpression in mice [J].

Girirajan, Santhosh ;

Patel, Nisha ;

Slager, Rebecca E. ;

Tokarz, Mary E. ;

Bucan, Maja ;

Wiley, Jenny L. ;

Elsea, Sarah H. .

EUROPEAN JOURNAL OF HUMAN GENETICS, 2008, 16 (08) :941-954

[29] Phenotypic Heterogeneity of Genomic Disorders and Rare Copy-Number Variants [J].

Girirajan, Santhosh ;

Rosenfeld, Jill A. ;

Coe, Bradley P. ;

Parikh, Sumit ;

Friedman, Neil ;

Goldstein, Amy ;

Filipink, Robyn A. ;

McConnell, Juliann S. ;

Angle, Brad ;

Meschino, Wendy S. ;

Nezarati, Marjan M. ;

Asamoah, Alexander ;

Jackson, Kelly E. ;

Gowans, Gordon C. ;

Martin, Judith A. ;

Carmany, Erin P. ;

Stockton, David W. ;

Schnur, Rhonda E. ;

Penney, Lynette S. ;

Martin, Donna M. ;

Raskin, Salmo ;

Leppig, Kathleen ;

Thiese, Heidi ;

Smith, Rosemarie ;

Aberg, Erika ;

Niyazov, Dmitriy M. ;

Escobar, Luis F. ;

El-Khechen, Dima ;

Johnson, Kisha D. ;

Lebel, Robert R. ;

Siefkas, Kiana ;

Ball, Susie ;

Shur, Natasha ;

McGuire, Marianne ;

Brasington, Campbell K. ;

Spence, J. Edward ;

Martin, Laura S. ;

Clericuzio, Carol ;

Ballif, Blake C. ;

Shaffer, Lisa G. ;

Eichler, Evan E. .

NEW ENGLAND JOURNAL OF MEDICINE, 2012, 367 (14) :1321-1331

[30] Definition of a critical genetic interval related to kidney abnormalities in the Potocki-Lupski syndrome [J].

Goh, Elaine Suk-Ying ;

Perez, Irene C. ;

Canales, Cesar P. ;

Ruiz, Phillip ;

Agatep, Ron ;

Yoon, Grace ;

Chitayat, David ;

Dror, Yigal ;

Shago, Mary ;

Goobie, Sharan ;

Sgro, Michael ;

Walz, Katherina ;

Mendoza-Londono, Roberto .

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2012, 158A (07) :1579-1588

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