{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Lodato MA"],"funding":["National Institute of Neurological Disorders and Stroke","National Center for Research Resources","NCRR NIH HHS","Howard Hughes Medical Institute","NIA NIH HHS","NIMH NIH HHS","Leonard and Isabelle Goldenson Research Fellowship","Paul G. Allen Family Foundation","Eleanor and Miles Shore Fellowship","National Institute on Aging","Manton Center for Orphan Disease Research","Louis Lange III Scholarship in Translational Research","National Institute of Mental Health","NINDS NIH HHS","National Institute of General Medical Sciences (NIGMS)","NIGMS NIH HHS","NIGMS"],"pagination":["94-98"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC4664477"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["350(6256)"],"pubmed_abstract":["Neurons live for decades in a postmitotic state, their genomes susceptible to DNA damage. Here we survey the landscape of somatic single-nucleotide variants (SNVs) in the human brain. We identified thousands of somatic SNVs by single-cell sequencing of 36 neurons from the cerebral cortex of three normal individuals. Unlike germline and cancer SNVs, which are often caused by errors in DNA replication, neuronal mutations appear to reflect damage during active transcription. Somatic mutations create nested lineage trees, allowing them to be dated relative to developmental landmarks and revealing a polyclonal architecture of the human cerebral cortex. Thus, somatic mutations in the brain represent a durable and ongoing record of neuronal life history, from development through postmitotic function."],"journal":["Science (New York, N.Y.)"],"pubmed_title":["Somatic mutation in single human neurons tracks developmental and transcriptional history."],"pmcid":["PMC4664477"],"funding_grant_id":["U01 MH106883","R01 NS079277","P50 MH106933","T32 GM007753","1S10RR028832-01","S10 RR028832","T32 GM007226","R01 NS032457","T32 AG000222"],"pubmed_authors":["Park PJ","Lee S","Karger A","Woodworth MB","Lodato MA","Lee E","D'Gama AM","Chittenden TW","Walsh CA","Evrony GD","Mehta BK","Luquette LJ","Cai X"],"additional_accession":[]},"is_claimable":false,"name":"Somatic mutation in single human neurons tracks developmental and transcriptional history.","description":"Neurons live for decades in a postmitotic state, their genomes susceptible to DNA damage. Here we survey the landscape of somatic single-nucleotide variants (SNVs) in the human brain. We identified thousands of somatic SNVs by single-cell sequencing of 36 neurons from the cerebral cortex of three normal individuals. Unlike germline and cancer SNVs, which are often caused by errors in DNA replication, neuronal mutations appear to reflect damage during active transcription. Somatic mutations create nested lineage trees, allowing them to be dated relative to developmental landmarks and revealing a polyclonal architecture of the human cerebral cortex. Thus, somatic mutations in the brain represent a durable and ongoing record of neuronal life history, from development through postmitotic function.","dates":{"release":"2015-01-01T00:00:00Z","publication":"2015 Oct","modification":"2024-11-20T17:08:27.642Z","creation":"2019-03-27T02:02:59Z"},"accession":"S-EPMC4664477","cross_references":{"pubmed":["26430121"],"doi":["10.1126/science.aab1785"]}}