Article
Analysis of somatic mutations in 131 human brains reveals aging-associated hypermutability.
Science (New York, N.Y.) - 29 Jul 2022
Bae Taejeong, Fasching Liana, Wang Yifan, Shin Joo Heon, Suvakov Milovan, Jang Yeongjun, Norton Scott, Dias Caroline, Mariani Jessica, Jourdon Alexandre, Wu Feinan, Panda Arijit, Pattni Reenal, Chahine Yasmine, Yeh Rebecca, Roberts Rosalinda C, Huttner Anita, Kleinman Joel E, Hyde Thomas M, Straub Richard E, Walsh Christopher A, Urban Alexander E, Leckman James F, Weinberger Daniel R, Vaccarino Flora M, Abyzov Alexej
Abstract excerpt
We analyzed 131 human brains (44 neurotypical, 19 with Tourette syndrome, 9 with schizophrenia, and 59 with autism) for somatic mutations after whole genome sequencing to a depth of more than 200×. Typically, brains had 20 to 60 detectable single-nucleotide mutations, but ~6% of brains harbored hundreds of somatic mutations. Hypermutability was associated with age and damaging mutations in genes implicated in...
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