Somatic copy number variants in neuropsychiatric disorders

被引：7

作者：

Maury, Eduardo A. ^{[1
,2
,3
,4
,5
]}

Walsh, Christopher A. ^{[1
,2
,5
]}

机构：

[1] Boston Childrens Hosp, Manton Ctr Orphan Dis, Div Genet & Genom, Boston, MA 02115 USA

[2] Boston Childrens Hosp, Howard Hughes Med Inst, Boston, MA 02115 USA

[3] Harvard Med Sch, Bioinformat & Integrat Genom Program, Boston, MA 02115 USA

[4] Harvard Med Sch, Harvard MIT MD PHD Program, Boston, MA 02115 USA

[5] Broad Inst MIT & Harvard, Cambridge, MA 02142 USA

来源：

CURRENT OPINION IN GENETICS & DEVELOPMENT | 2021年 / 68卷

关键词：

DE-NOVO MUTATIONS; CHROMOSOMAL MOSAICISM; SINGLE-CELL; SCHIZOPHRENIA; BRAIN; ANEUPLOIDY; AUTISM; RISK; CONTRIBUTE; NEURONS;

D O I：

10.1016/j.gde.2020.12.013

中图分类号：

Q2 [细胞生物学];

学科分类号：

071009 ; 090102 ;

摘要：

Copy number variants (CNVs) have been implicated in neuropsychiatric disorders, with rare-inherited and de novo CNVs (dnCNVs) having large effects on disease liability. Recent studies started exploring a class of dnCNVs that occur postzygotically, and are therefore present in some but not all cells of the body. Analogous to conditional mutations in animal models, the presence of risk mutations in a fraction of cells has the potential to enlighten how damaging mutations affect cell-type/cell-circuit specific pathologies leading to neuropsychiatric manifestations. Although mosaic CNVs appear to contribute to a modest fraction of risk (0.3-0.5%), expanding our insights about them with more sensitive experimental and statistical methods, has the potential to help clarify mechanisms of neuropsychiatric disease.

引用

页码：9 / 17

页数：9

共 64 条

[41] Copy Number Variation in Obsessive-Compulsive Disorder and Tourette Syndrome: A Cross-Disorder Study [J].

McGrath, Lauren M. ;

Yu, Dongmei ;

Marshall, Christian ;

Davis, Lea K. ;

Thiruvahindrapuram, Bhooma ;

Li, Bingbin ;

Cappi, Carolina ;

Gerber, Gloria ;

Wolf, Aaron ;

Schroeder, Frederick A. ;

Osiecki, Lisa ;

O'Dushlaine, Colm ;

Kirby, Andrew ;

Illmann, Cornelia ;

Haddad, Stephen ;

Gallagher, Patience ;

Fagerness, Jesen A. ;

Barr, Cathy L. ;

Bellodi, Laura ;

Benarroch, Fortu ;

Bienvenu, O. Joseph ;

Black, Donald W. ;

Bloch, Michael H. ;

Bruun, Ruth D. ;

Budman, Cathy L. ;

Camarena, Beatriz ;

Cath, Danielle C. ;

Cavallini, Maria C. ;

Chouinard, Sylvain ;

Coric, Vladimir ;

Cullen, Bernadette ;

Delorme, Richard ;

Denys, Damiaan ;

Derks, Eske M. ;

Dion, Yves ;

Rosario, Maria C. ;

Eapen, Valsama ;

Evans, Patrick ;

Falkai, Peter ;

Fernandez, Thomas V. ;

Garrido, Helena ;

Geller, Daniel ;

Grabe, Hans J. ;

Grados, Marco A. ;

Greenberg, Benjamin D. ;

Gross-Tsur, Varda ;

Gruenblatt, Edna ;

Heiman, Gary A. ;

Hemmings, Sian M. J. ;

Herrera, Luis D. .

JOURNAL OF THE AMERICAN ACADEMY OF CHILD AND ADOLESCENT PSYCHIATRY, 2014, 53 (08) :910-919

[42] Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism [J].

Mirzaa, Ghayda M. ;

Campbell, Catarina D. ;

Solovieff, Nadia ;

Goold, Carleton P. ;

Jansen, Laura A. ;

Menon, Suchithra ;

Timms, Andrew E. ;

Conti, Valerio ;

Biag, Jonathan D. ;

Olds, Carissa ;

Boyle, Evan August ;

Collins, Sarah ;

Ishak, Gisele ;

Poliachik, Sandra L. ;

Girisha, Katta M. ;

Yeung, Kit-San ;

Chung, Brian Hon Yin ;

Rahikkala, Elisa ;

Gunter, Sonya A. ;

McDaniel, Sharon S. ;

Macmurdo, Colleen Forsyth ;

Bernstein, Jonathan A. ;

Martin, Beth ;

Leary, Rebecca J. ;

Mahan, Scott ;

Liu, Shanming ;

Weaver, Molly ;

Dorschner, Michael O. ;

Jhangiani, Shalini ;

Muzny, Donna M. ;

Boerwinkle, Eric ;

Gibbs, Richard A. ;

Lupski, James R. ;

Shendure, Jay ;

Saneto, Russell P. ;

Novotny, Edward J. ;

Wilson, Christopher J. ;

Sellers, William R. ;

Morrissey, Michael P. ;

Hevner, Robert F. ;

Ojemann, Jeffrey G. ;

Guerrini, Renzo ;

Murphy, Leon O. ;

Winckler, Wendy ;

Dobyns, William B. .

JAMA NEUROLOGY, 2016, 73 (07) :836-845

[43] Deep sequencing reveals variations in somatic cell mosaic mutations between monozygotic twins with discordant psychiatric disease [J].

Morimoto Y. ;

Ono S. ;

Imamura A. ;

Okazaki Y. ;

Kinoshita A. ;

Mishima H. ;

Nakane H. ;

Ozawa H. ;

Yoshiura K.-I. ;

Kurotaki N. .

Human Genome Variation, 4 (1)

[44] Somatic Activation of AKT3 Causes Hemispheric Developmental Brain Malformations [J].

Poduri, Annapurna ;

Evrony, Gilad D. ;

Cai, Xuyu ;

Elhosary, Princess Christina ;

Beroukhinn, Rameen ;

Lehtinen, Maria K. ;

Hills, L. Benjamin ;

Heinzen, Erin L. ;

Hill, Anthony ;

Hil, R. Sean ;

Barry, Brenda J. ;

Bourgeois, Blaise F. D. ;

Riviello, James J. ;

Barkovich, A. James ;

Black, Peter M. ;

Ligon, Keith L. ;

Walsh, Christopher A. .

NEURON, 2012, 74 (01) :41-48

[45] Accurately Assessing the Risk of Schizophrenia Conferred by Rare Copy-Number Variation Affecting Genes with Brain Function [J].

Raychaudhuri, Soumya ;

Korn, Joshua M. ;

McCarroll, Steven A. ;

Altshuler, David ;

Sklar, Pamela ;

Purcell, Shaun ;

Daly, Mark J. .

PLOS GENETICS, 2010, 6 (09)

[46] Constitutional aneuploidy in the normal human brain [J].

Rehen, SK ;

Yung, YC ;

McCreight, MP ;

Kaushal, D ;

Yang, AH ;

Almeida, BSV ;

Kingsbury, MA ;

Cabral, KMS ;

McConnell, MJ ;

Anliker, B ;

Fontanoz, M ;

Chun, J .

JOURNAL OF NEUROSCIENCE, 2005, 25 (09) :2176-2180

[47] Biological insights from 108 schizophrenia-associated genetic loci [J].

Ripke, Stephan ;

Neale, Benjamin M. ;

Corvin, Aiden ;

Walters, James T. R. ;

Farh, Kai-How ;

Holmans, Peter A. ;

Lee, Phil ;

Bulik-Sullivan, Brendan ;

Collier, David A. ;

Huang, Hailiang ;

Pers, Tune H. ;

Agartz, Ingrid ;

Agerbo, Esben ;

Albus, Margot ;

Alexander, Madeline ;

Amin, Farooq ;

Bacanu, Silviu A. ;

Begemann, Martin ;

Belliveau, Richard A., Jr. ;

Bene, Judit ;

Bergen, Sarah E. ;

Bevilacqua, Elizabeth ;

Bigdeli, Tim B. ;

Black, Donald W. ;

Bruggeman, Richard ;

Buccola, Nancy G. ;

Buckner, Randy L. ;

Byerley, William ;

Cahn, Wiepke ;

Cai, Guiqing ;

Campion, Dominique ;

Cantor, Rita M. ;

Carr, Vaughan J. ;

Carrera, Noa ;

Catts, Stanley V. ;

Chambert, Kimberly D. ;

Chan, Raymond C. K. ;

Chen, Ronald Y. L. ;

Chen, Eric Y. H. ;

Cheng, Wei ;

Cheung, Eric F. C. ;

Chong, Siow Ann ;

Cloninger, C. Robert ;

Cohen, David ;

Cohen, Nadine ;

Cormican, Paul ;

Craddock, Nick ;

Crowley, James J. ;

Curtis, David ;

Davidson, Michael .

NATURE, 2014, 511 (7510) :421-+

[48]

Rodin R.E., 2020, bioRxiv, p2020.02.11.944413, DOI [10.1101/2020.02.11.944413, DOI 10.1101/2020.02.11.944413]

[49] Mosaic copy number variation in schizophrenia [J].

Ruderfer, Douglas M. ;

Chambert, Kim ;

Moran, Jennifer ;

Talkowski, Michael ;

Chen, Elizabeth S. ;

Gigek, Carolina ;

Gusella, James F. ;

Blackwood, Douglas H. ;

Corvin, Aiden ;

Gurling, Hugh M. ;

Hultman, Christina M. ;

Kirov, George ;

Magnusson, Patrick ;

O'Donovan, Michael C. ;

Owen, Michael J. ;

Pato, Carlos ;

St Clair, David ;

Sullivan, Patrick F. ;

Purcell, Shaun M. ;

Sklar, Pamela ;

Ernst, Carl .

EUROPEAN JOURNAL OF HUMAN GENETICS, 2013, 21 (09) :1007-1011

[50] Assessment of copy number variations in the brain genome of schizophrenia patients [J].

Sakai, Miwako ;

Watanabe, Yuichiro ;

Someya, Toshiyuki ;

Araki, Kazuaki ;

Shibuya, Masako ;

Niizato, Kazuhiro ;

Oshima, Kenichi ;

Kunii, Yasuto ;

Yabe, Hirooki ;

Matsumoto, Junya ;

Wada, Akira ;

Hino, Mizuki ;

Hashimoto, Takeshi ;

Hishimoto, Akitoyo ;

Kitamura, Noboru ;

Iritani, Shuji ;

Shirakawa, Osamu ;

Maeda, Kiyoshi ;

Miyashita, Akinori ;

Niwa, Shin-ichi ;

Takahashi, Hitoshi ;

Kakita, Akiyoshi ;

Kuwano, Ryozo ;

Nawa, Hiroyuki .

MOLECULAR CYTOGENETICS, 2015, 8

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