Literature DB >> 29226270

Insights into the role of somatic mosaicism in the brain.

Apuã C M Paquola1, Jennifer A Erwin1, Fred H Gage1.   

Abstract

Somatic mosaicism refers to the fact that cells within an organism have different genomes. It is now clear that somatic mosaicism occurs in all brains and that somatic mutations in a subset of cells can cause various rare neurodevelopmental disorders. However, for most individuals, the extent and consequences of somatic mosaicism are largely unknown. The complexity and unique features of the brain suggest that somatic mosaicism can play an important role in behavior and cognition. Here we review recent manuscripts showing instances of somatic mosaicism in the brain and estimating its extent and possible biological consequences. The consequences of somatic mosaicism span vast dimensions -from a single-locus variant, to genes and gene networks, to cells, to the interactions of the mosaic cells via neural networks affecting behavior and cognition. We highlight how systems biology approaches are particularly well suited for the complex emerging field of brain somatic mosaicism.

Entities:  

Keywords:  Brain development; Mutation; Retrotransposition; Somatic mosaicism

Year:  2016        PMID: 29226270      PMCID: PMC5718369          DOI: 10.1016/j.coisb.2016.12.004

Source DB:  PubMed          Journal:  Curr Opin Syst Biol        ISSN: 2452-3100


  19 in total

1.  Somatic mosaicism in neuronal precursor cells mediated by L1 retrotransposition.

Authors:  Alysson R Muotri; Vi T Chu; Maria C N Marchetto; Wei Deng; John V Moran; Fred H Gage
Journal:  Nature       Date:  2005-06-16       Impact factor: 49.962

Review 2.  Generation of neuronal variability and complexity.

Authors:  Alysson R Muotri; Fred H Gage
Journal:  Nature       Date:  2006-06-29       Impact factor: 49.962

3.  Mosaic copy number variation in human neurons.

Authors:  Michael J McConnell; Michael R Lindberg; Kristen J Brennand; Julia C Piper; Thierry Voet; Chris Cowing-Zitron; Svetlana Shumilina; Roger S Lasken; Joris R Vermeesch; Ira M Hall; Fred H Gage
Journal:  Science       Date:  2013-11-01       Impact factor: 47.728

Review 4.  Cockayne syndrome: the expanding clinical and mutational spectrum.

Authors:  Vincent Laugel
Journal:  Mech Ageing Dev       Date:  2013-02-18       Impact factor: 5.432

5.  Mutations in PNKP cause microcephaly, seizures and defects in DNA repair.

Authors:  Jun Shen; Edward C Gilmore; Christine A Marshall; Mary Haddadin; John J Reynolds; Wafaa Eyaid; Adria Bodell; Brenda Barry; Danielle Gleason; Kathryn Allen; Vijay S Ganesh; Bernard S Chang; Arthur Grix; R Sean Hill; Meral Topcu; Keith W Caldecott; A James Barkovich; Christopher A Walsh
Journal:  Nat Genet       Date:  2010-01-31       Impact factor: 38.330

6.  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

7.  Failed clearance of aneuploid embryonic neural progenitor cells leads to excess aneuploidy in the Atm-deficient but not the Trp53-deficient adult cerebral cortex.

Authors:  Michael J McConnell; Dhruv Kaushal; Amy H Yang; Marcy A Kingsbury; Stevens K Rehen; Kai Treuner; Robert Helton; Emily G Annas; Jerold Chun; Carrolee Barlow
Journal:  J Neurosci       Date:  2004-09-15       Impact factor: 6.167

8.  Increased chromosome instability dramatically disrupts neural genome integrity and mediates cerebellar degeneration in the ataxia-telangiectasia brain.

Authors:  Ivan Y Iourov; Svetlana G Vorsanova; Thomas Liehr; Alexei D Kolotii; Yuri B Yurov
Journal:  Hum Mol Genet       Date:  2009-05-04       Impact factor: 6.150

9.  Ubiquitous L1 mosaicism in hippocampal neurons.

Authors:  Kyle R Upton; Daniel J Gerhardt; J Samuel Jesuadian; Sandra R Richardson; Francisco J Sánchez-Luque; Gabriela O Bodea; Adam D Ewing; Carmen Salvador-Palomeque; Marjo S van der Knaap; Paul M Brennan; Adeline Vanderver; Geoffrey J Faulkner
Journal:  Cell       Date:  2015-04-09       Impact factor: 41.582

10.  Long Neural Genes Harbor Recurrent DNA Break Clusters in Neural Stem/Progenitor Cells.

Authors:  Pei-Chi Wei; Amelia N Chang; Jennifer Kao; Zhou Du; Robin M Meyers; Frederick W Alt; Bjoern Schwer
Journal:  Cell       Date:  2016-02-11       Impact factor: 41.582

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  15 in total

1.  Unbiased mosaic variant assessment in sperm: a cohort study to test predictability of transmission.

Authors:  Martin W Breuss; Xiaoxu Yang; Valentina Stanley; Jennifer McEvoy-Venneri; Xin Xu; Arlene J Morales; Joseph G Gleeson
Journal:  Elife       Date:  2022-07-05       Impact factor: 8.713

Review 2.  The Dynamics of Somatic Mutagenesis During Life in Humans.

Authors:  Freek Manders; Ruben van Boxtel; Sjors Middelkamp
Journal:  Front Aging       Date:  2021-12-17

Review 3.  Somatic mosaicism in the diseased brain.

Authors:  Ivan Y Iourov; Svetlana G Vorsanova; Oxana S Kurinnaia; Sergei I Kutsev; Yuri B Yurov
Journal:  Mol Cytogenet       Date:  2022-10-21       Impact factor: 1.904

Review 4.  Retrotransposons as Drivers of Mammalian Brain Evolution.

Authors:  Roberto Ferrari; Nicole Grandi; Enzo Tramontano; Giorgio Dieci
Journal:  Life (Basel)       Date:  2021-04-22

5.  Lysergic acid diethylamide induces increased signalling entropy in rats' prefrontal cortex.

Authors:  Aurora Savino; Charles D Nichols
Journal:  J Neurochem       Date:  2021-11-14       Impact factor: 5.546

Review 6.  Warning SINEs: Alu elements, evolution of the human brain, and the spectrum of neurological disease.

Authors:  Peter A Larsen; Kelsie E Hunnicutt; Roxanne J Larsen; Anne D Yoder; Ann M Saunders
Journal:  Chromosome Res       Date:  2018-02-19       Impact factor: 5.239

Review 7.  Somatic mutations in neurons during aging and neurodegeneration.

Authors:  Bert M Verheijen; Marc Vermulst; Fred W van Leeuwen
Journal:  Acta Neuropathol       Date:  2018-04-28       Impact factor: 17.088

8.  Robust elimination of genome-damaged cells safeguards against brain somatic aneuploidy following Knl1 deletion.

Authors:  Lei Shi; Adel Qalieh; Mandy M Lam; Jason M Keil; Kenneth Y Kwan
Journal:  Nat Commun       Date:  2019-06-13       Impact factor: 17.694

9.  Verifying Feighner's Hypothesis; Anorexia Nervosa Is Not a Psychiatric Disorder.

Authors:  Per Södersten; Ulf Brodin; Modjtaba Zandian; Cecilia E K Bergh
Journal:  Front Psychol       Date:  2019-09-16

Review 10.  Genomic Indexing by Somatic Gene Recombination of mRNA/ncRNA - Does It Play a Role in Genomic Mosaicism, Memory Formation, and Alzheimer's Disease?

Authors:  Uwe Ueberham; Thomas Arendt
Journal:  Front Genet       Date:  2020-04-29       Impact factor: 4.599

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