The role of somatic mosaicism in brain disease

被引：15

作者：

Jourdon, Alexandre ^{[1
]}

Fasching, Liana ^{[1
]}

Scuderi, Soraya ^{[1
]}

Abyzov, Alexej ^{[2
]}

Vaccarino, Flora M. ^{[1
,3
]}

机构：

[1] Yale Univ, Child Study Ctr, New Haven, CT 06520 USA

[2] Mayo Clin, Dept Hlth Sci Res, Ctr Individualized Med, Rochester, MN 55905 USA

[3] Yale Univ, Dept Neurosci, New Haven, CT 06520 USA

来源：

CURRENT OPINION IN GENETICS & DEVELOPMENT | 2020年 / 65卷

基金：

美国国家卫生研究院;

关键词：

COPY-NUMBER VARIATION; AUTISM SPECTRUM DISORDER; DNA BREAK CLUSTERS; DE-LANGE-SYNDROME; SINGLE-CELL; EPILEPTIC ENCEPHALOPATHY; ALZHEIMERS-DISEASE; LIGASE-IV; MUTATIONS; ANEUPLOIDY;

D O I：

10.1016/j.gde.2020.05.002

中图分类号：

Q2 [细胞生物学];

学科分类号：

071009 ; 090102 ;

摘要：

In this review we discuss the importance of genetic somatic mosaicism and its impact on brain diseases. We start from introducing the different types of somatic mutations, their frequencies and abundances across development and lifespan. We then describe how weakness in DNA repair mechanisms influences their prevalence. Finally, we address their functional consequences in the brain and review recent research showing their unsuspected importance in several neurodevelopmental, psychiatric, and neurodegenerative diseases.

引用

页码：84 / 90

页数：7

共 81 条

[1] One thousand somatic SNVs per skin fibroblast cell set baseline of mosaic mutational load with patterns that suggest proliferative origin [J].

Abyzov, Alexej ;

Tomasini, Livia ;

Zhou, Bo ;

Vasmatzis, Nikolaos ;

Coppola, Gianfilippo ;

Amenduni, Mariangela ;

Pattni, Reenal ;

Wilson, Michael ;

Gerstein, Mark ;

Weissman, Sherman ;

Urban, Alexander E. ;

Vaccarino, Flora M. .

GENOME RESEARCH, 2017, 27 (04) :512-523

[2] Somatic copy number mosaicism in human skin revealed by induced pluripotent stem cells [J].

Abyzov, Alexej ;

Mariani, Jessica ;

Palejev, Dean ;

Zhang, Ying ;

Haney, Michael Seamus ;

Tomasini, Livia ;

Ferrandino, Anthony F. ;

Belmaker, Lior A. Rosenberg ;

Szekely, Anna ;

Wilson, Michael ;

Kocabas, Arif ;

Calixto, Nathaniel E. ;

Grigorenko, Elena L. ;

Huttner, Anita ;

Chawarska, Katarzyna ;

Weissman, Sherman ;

Urban, Alexander Eckehart ;

Gerstein, Mark ;

Vaccarino, Flora M. .

NATURE, 2012, 492 (7429) :438-+

[3] Post-zygotic Point Mutations Are an Underrecognized Source of De Novo Genomic Variation [J].

Acuna-Hidalgo, Rocio ;

Bo, Tan ;

Kwint, Michael P. ;

van de Vorst, Maartje ;

Pinelli, Michele ;

Veltman, Joris A. ;

Hoischen, Alexander ;

Vissers, Lisenka E. L. M. ;

Gilissen, Christian .

AMERICAN JOURNAL OF HUMAN GENETICS, 2015, 97 (01) :67-74

[4] DNA double-strand breaks as drivers of neural genomic change, function, and disease [J].

Alt, Frederick W. ;

Schwer, Bjoern .

DNA REPAIR, 2018, 71 :158-163

[5] Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism [J].

Ansari, Morad ;

Poke, Gemma ;

Ferry, Quentin ;

Williamson, Kathleen ;

Aldridge, Roland ;

Meynert, Alison M. ;

Bengani, Hemant ;

Chan, Cheng Yee ;

Kayserili, Hulya ;

Avci, Sahin ;

Hennekam, Raoul C. M. ;

Lampe, Anne K. ;

Redeker, Egbert ;

Homfray, Tessa ;

Ross, Alison ;

Smeland, Marie Falkenberg ;

Mansour, Sahar ;

Parker, Michael J. ;

Cook, Jacqueline A. ;

Splitt, Miranda ;

Fisher, Richard B. ;

Fryer, Alan ;

Magee, Alex C. ;

Wilkie, Andrew ;

Barnicoat, Angela ;

Brady, Angela F. ;

Cooper, Nicola S. ;

Mercer, Catherine ;

Deshpande, Charu ;

Bennett, Christopher P. ;

Pilz, Daniela T. ;

Ruddy, Deborah ;

Cilliers, Deirdre ;

Johnson, Diana S. ;

Josifova, Dragana ;

Rosser, Elisabeth ;

Thompson, Elizabeth M. ;

Wakeling, Emma ;

Kinning, Esther ;

Stewart, Fiona ;

Flinter, Frances ;

Girisha, Katta M. ;

Cox, Helen ;

Firth, Helen V. ;

Kingston, Helen ;

Wee, Jamie S. ;

Hurst, Jane A. ;

Clayton-Smith, Jill ;

Tolmie, John ;

Vogt, Julie .

JOURNAL OF MEDICAL GENETICS, 2014, 51 (10) :659-668

[6] Different mutational rates and mechanisms in human cells at pregastrulation and neurogenesis [J].

Bae, Taejeong ;

Tomasini, Livia ;

Mariani, Jessica ;

Zhou, Bo ;

Roychowdhury, Tanmoy ;

Franjic, Daniel ;

Pletikos, Mihovil ;

Pattni, Reenal ;

Chen, Bo-Juen ;

Venturini, Elisa ;

Riley-Gillis, Bridget ;

Sestan, Nenad ;

Urban, Alexander E. ;

Abyzov, Alexej ;

Vaccarino, Flora M. .

SCIENCE, 2018, 359 (6375) :550-+

[7] Somatic retrotransposition alters the genetic landscape of the human brain [J].

Baillie, J. Kenneth ;

Barnett, Mark W. ;

Upton, Kyle R. ;

Gerhardt, Daniel J. ;

Richmond, Todd A. ;

De Sapio, Fioravante ;

Brennan, Paul ;

Rizzu, Patrizia ;

Smith, Sarah ;

Fell, Mark ;

Talbot, Richard T. ;

Gustincich, Stefano ;

Freeman, Thomas C. ;

Mattick, John S. ;

Hume, David A. ;

Heutink, Peter ;

Carninci, Piero ;

Jeddeloh, Jeffrey A. ;

Faulkner, Geoffrey J. .

NATURE, 2011, 479 (7374) :534-537

[8] Dissecting the genetic basis of focal cortical dysplasia: a large cohort study [J].

Baldassari, Sara ;

Ribierre, Theo ;

Marsan, Elise ;

Adle-Biassette, Homa ;

Ferrand-Sorbets, Sarah ;

Bulteau, Christine ;

Dorison, Nathalie ;

Fohlen, Martine ;

Polivka, Marc ;

Weckhuysen, Sarah ;

Dorfmueller, Georg ;

Chipaux, Mathilde ;

Baulac, Stephanie .

ACTA NEUROPATHOLOGICA, 2019, 138 (06) :885-900

[9] A patient with mutations in DNA ligase IV: Clinical features and overlap with Nijmegen breakage syndrome [J].

Ben-Omran, TI ;

Cerosaletti, K ;

Concannon, P ;

Weitzman, S ;

Nezarati, MM .

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2005, 137A (03) :283-287

[10] Tissue-specific mutation accumulation in human adult stem cells during life [J].

Blokzijl, Francis ;

de Ligt, Joep ;

Jager, Myrthe ;

Sasselli, Valentina ;

Roerink, Sophie ;

Sasaki, Nobuo ;

Huch, Meritxell ;

Boymans, Sander ;

Kuijk, Ewart ;

Prins, Pjotr ;

Nijman, Isaac J. ;

Martincorena, Inigo ;

Mokry, Michal ;

Wiegerinck, Caroline L. ;

Middendorp, Sabine ;

Sato, Toshiro ;

Schwank, Gerald ;

Nieuwenhuis, Edward E. S. ;

Verstegen, Monique M. A. ;

van der Laan, Luc J. W. ;

de Jonge, Jeroen ;

IJzermans, Jan N. M. ;

Vries, Robert G. ;

van de Wetering, Marc ;

Stratton, Michael R. ;

Clevers, Hans ;

Cuppen, Edwin ;

van Boxtel, Ruben .

NATURE, 2016, 538 (7624) :260-+

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