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Literature DB >> 32622340

The role of somatic mosaicism in brain disease.

Alexandre Jourdon¹, Liana Fasching¹, Soraya Scuderi¹, Alexej Abyzov², Flora M Vaccarino³.

Abstract

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.

Entities: Chemical

Mesh：

Year: 2020 PMID： 32622340 PMCID： PMC7749073 DOI： 10.1016/j.gde.2020.05.002

Source DB: PubMed Journal: Curr Opin Genet Dev ISSN： 0959-437X Impact factor: 5.578

81 in total

1. DNA replication precedes neuronal cell death in Alzheimer's disease.

Authors: Y Yang; D S Geldmacher; K Herrup
Journal: J Neurosci Date: 2001-04-15 Impact factor: 6.167

2. Somatic Mutations in TSC1 and TSC2 Cause Focal Cortical Dysplasia.

Authors: Jae Seok Lim; Ramu Gopalappa; Se Hoon Kim; Suresh Ramakrishna; Minji Lee; Woo-Il Kim; Junho Kim; Sang Min Park; Junehawk Lee; Jung-Hwa Oh; Heung Dong Kim; Chang-Hwan Park; Joon Soo Lee; Sangwoo Kim; Dong Seok Kim; Jung Min Han; Hoon-Chul Kang; Hyongbum Henry Kim; Jeong Ho Lee
Journal: Am J Hum Genet Date: 2017-02-16 Impact factor: 11.025

3. Activity-Induced DNA Breaks Govern the Expression of Neuronal Early-Response Genes.

Authors: Ram Madabhushi; Fan Gao; Andreas R Pfenning; Ling Pan; Satoko Yamakawa; Jinsoo Seo; Richard Rueda; Trongha X Phan; Hidekuni Yamakawa; Ping-Chieh Pao; Ryan T Stott; Elizabeta Gjoneska; Alexi Nott; Sukhee Cho; Manolis Kellis; Li-Huei Tsai
Journal: Cell Date: 2015-06-04 Impact factor: 41.582

4. Somatic copy number gains of α-synuclein (SNCA) in Parkinson's disease and multiple system atrophy brains.

Authors: Katya Mokretar; Daniel Pease; Jan-Willem Taanman; Aynur Soenmez; Ayesha Ejaz; Tammaryn Lashley; Helen Ling; Steve Gentleman; Henry Houlden; Janice L Holton; Anthony H V Schapira; Elizabeth Nacheva; Christos Proukakis
Journal: Brain Date: 2018-08-01 Impact factor: 13.501

5. DNA ligase IV mutations identified in patients exhibiting developmental delay and immunodeficiency.

Authors: M O'Driscoll; K M Cerosaletti; P M Girard; Y Dai; M Stumm; B Kysela; B Hirsch; A Gennery; S E Palmer; J Seidel; R A Gatti; R Varon; M A Oettinger; H Neitzel; P A Jeggo; P Concannon
Journal: Mol Cell Date: 2001-12 Impact factor: 17.970

6. Molecular characterization of a mosaic NIPBL deletion in a Cornelia de Lange patient with severe phenotype.

Authors: Cristina Gervasini; Ilaria Parenti; Chiara Picinelli; Jacopo Azzollini; Maura Masciadri; Anna Cereda; Angelo Selicorni; Silvia Russo; Palma Finelli; Lidia Larizza
Journal: Eur J Med Genet Date: 2013-01-08 Impact factor: 2.708

Review 7. DNA damage and its links to neurodegeneration.

Authors: Ram Madabhushi; Ling Pan; Li-Huei Tsai
Journal: Neuron Date: 2014-07-16 Impact factor: 17.173

8. L1-associated genomic regions are deleted in somatic cells of the healthy human brain.

Authors: Jennifer A Erwin; Apuã C M Paquola; Tatjana Singer; Iryna Gallina; Mark Novotny; Carolina Quayle; Tracy A Bedrosian; Francisco I A Alves; Cheyenne R Butcher; Joseph R Herdy; Anindita Sarkar; Roger S Lasken; Alysson R Muotri; Fred H Gage
Journal: Nat Neurosci Date: 2016-09-12 Impact factor: 24.884

The role of somatic mosaicism in brain disease.

1. DNA replication precedes neuronal cell death in Alzheimer's disease.

2. Somatic Mutations in TSC1 and TSC2 Cause Focal Cortical Dysplasia.

3. Activity-Induced DNA Breaks Govern the Expression of Neuronal Early-Response Genes.

4. Somatic copy number gains of α-synuclein (SNCA) in Parkinson's disease and multiple system atrophy brains.

5. DNA ligase IV mutations identified in patients exhibiting developmental delay and immunodeficiency.

6. Molecular characterization of a mosaic NIPBL deletion in a Cornelia de Lange patient with severe phenotype.

Review 7. DNA damage and its links to neurodegeneration.

8. L1-associated genomic regions are deleted in somatic cells of the healthy human brain.

Review 9. The genomically mosaic brain: aneuploidy and more in neural diversity and disease.

10. Post-zygotic Point Mutations Are an Underrecognized Source of De Novo Genomic Variation.

Review 1. Exploring the Origin and Physiological Significance of DNA Double Strand Breaks in the Developing Neuroretina.

Review 2. Somatic mosaicism in the diseased brain.

Review 3. Methods to Improve Molecular Diagnosis in Genomic Cold Cases in Pediatric Neurology.

4. Chromosome Instability, Aging and Brain Diseases.

Review 5. Modeling Somatic Mutations Associated With Neurodevelopmental Disorders in Human Brain Organoids.