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Wei, Wei; Keogh, Michael J; Aryaman, Juvid; Golder, Zoe; Kullar, Peter J; Wilson, Ian; Talbot, Kevin; Turner, Martin R; McKenzie, Chris-Anne; Troakes, Claire; Attems, Johannes; Smith, Colin; Sarraj, Safa Al; Morris, Chris M; Ansorge, Olaf; Jones, Nick S; Ironside, James W; Chinnery, Patrick F
Genetics in medicine, 04/2019, Letnik: 21, Številka: 4Journal Article
To systematically study somatic variants arising during development in the human brain across a spectrum of neurodegenerative disorders. In this study we developed a pipeline to identify somatic variants from exome sequencing data in 1461 diseased and control human brains. Eighty-eight percent of the DNA samples were extracted from the cerebellum. Identified somatic variants were validated by targeted amplicon sequencing and/or PyroMark® Q24. We observed somatic coding variants present in >10% of sampled cells in at least 1% of brains. The mutational signature of the detected variants showed a predominance of C>T variants most consistent with arising from DNA mismatch repair, occurred frequently in genes that are highly expressed within the central nervous system, and with a minimum somatic mutation rate of 4.25 × 10 per base pair per individual. These findings provide proof-of-principle that deleterious somatic variants can affect sizeable brain regions in at least 1% of the population, and thus have the potential to contribute to the pathogenesis of common neurodegenerative diseases.
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