Posts Tagged ‘texp’
GTEx somatic mosaicism from RNA-Seq in Science
June 8, 2019Intersection of diverse neuronal genomes and neuropsychiatric disease: The Brain Somatic Mosaicism Network | Science
May 15, 2017The #Brain #Somatic Mosaicism Network
http://science.ScienceMag.org/content/356/6336/eaal1641 Long lifespan of neurons accentuates impact of individual somatic mutations
QT:{{”
Neuropsychiatric disorders have a complex genetic architecture. Human genetic population-based studies have identified numerous heritable sequence and structural genomic variants associated with
susceptibility to neuropsychiatric disease. However, these germline variants do not fully account for disease risk. During brain development, progenitor cells undergo billions of cell divisions to generate the ~80 billion neurons in the brain. The failure to accurately repair DNA damage arising during replication,
transcription, and cellular metabolism amid this dramatic cellular expansion can lead to somatic mutations. Somatic mutations that alter subsets of neuronal transcriptomes and proteomes can, in turn, affect cell proliferation and survival and lead to neurodevelopmental disorders. The long life span of individual neurons and the direct relationship between neural circuits and behavior suggest that somatic mutations in small populations of neurons can significantly affect individual neurodevelopment. The Brain Somatic Mosaicism Network has been founded to study somatic mosaicism both in neurotypical human brains and in the context of complex neuropsychiatric disorders.” “}}
Mechanisms underlying structural variant formation in genomic disorders : Nature Reviews Genetics : Nature Publishing Group
April 1, 2017Mechanisms underlying #SV formation in…disorders
http://www.Nature.com/nrg/journal/v17/n4/abs/nrg.2015.25.html Highlights importance of repeats in creating genomic plasticity
Nat Rev Genet. 2016 Apr;17(4):224-38. doi: 10.1038/nrg.2015.25. Epub 2016 Feb 29.
Mechanisms underlying structural variant formation in genomic disorders. Carvalho CM, Lupski JR
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