Your browser doesn't support javascript.
loading
Somatic mutation in single human neurons tracks developmental and transcriptional history.
Lodato, Michael A; Woodworth, Mollie B; Lee, Semin; Evrony, Gilad D; Mehta, Bhaven K; Karger, Amir; Lee, Soohyun; Chittenden, Thomas W; D'Gama, Alissa M; Cai, Xuyu; Luquette, Lovelace J; Lee, Eunjung; Park, Peter J; Walsh, Christopher A.
Afiliación
  • Lodato MA; Division of Genetics and Genomics, Manton Center for Orphan Disease, and Howard Hughes Medical Institute, Boston Children's Hospital, Boston, MA, USA; Departments of Neurology and Pediatrics, Harvard Medical School, Boston, MA, USA; and Broad Institute of MIT and Harvard, Cambridge, MA, USA.
  • Woodworth MB; Division of Genetics and Genomics, Manton Center for Orphan Disease, and Howard Hughes Medical Institute, Boston Children's Hospital, Boston, MA, USA; Departments of Neurology and Pediatrics, Harvard Medical School, Boston, MA, USA; and Broad Institute of MIT and Harvard, Cambridge, MA, USA.
  • Lee S; Department of Biomedical Informatics, Harvard Medical School, Boston, MA, USA.
  • Evrony GD; Division of Genetics and Genomics, Manton Center for Orphan Disease, and Howard Hughes Medical Institute, Boston Children's Hospital, Boston, MA, USA; Departments of Neurology and Pediatrics, Harvard Medical School, Boston, MA, USA; and Broad Institute of MIT and Harvard, Cambridge, MA, USA.
  • Mehta BK; Division of Genetics and Genomics, Manton Center for Orphan Disease, and Howard Hughes Medical Institute, Boston Children's Hospital, Boston, MA, USA; Departments of Neurology and Pediatrics, Harvard Medical School, Boston, MA, USA; and Broad Institute of MIT and Harvard, Cambridge, MA, USA.
  • Karger A; Research Computing, Harvard Medical School, Boston, MA, USA.
  • Lee S; Department of Biomedical Informatics, Harvard Medical School, Boston, MA, USA.
  • Chittenden TW; Research Computing, Harvard Medical School, Boston, MA, USA.
  • D'Gama AM; Complex Biological Systems Alliance, North Andover, MA, USA.
  • Cai X; Division of Genetics and Genomics, Manton Center for Orphan Disease, and Howard Hughes Medical Institute, Boston Children's Hospital, Boston, MA, USA; Departments of Neurology and Pediatrics, Harvard Medical School, Boston, MA, USA; and Broad Institute of MIT and Harvard, Cambridge, MA, USA.
  • Luquette LJ; Division of Genetics and Genomics, Manton Center for Orphan Disease, and Howard Hughes Medical Institute, Boston Children's Hospital, Boston, MA, USA; Departments of Neurology and Pediatrics, Harvard Medical School, Boston, MA, USA; and Broad Institute of MIT and Harvard, Cambridge, MA, USA.
  • Lee E; Department of Biomedical Informatics, Harvard Medical School, Boston, MA, USA.
  • Park PJ; Department of Biomedical Informatics, Harvard Medical School, Boston, MA, USA.
  • Walsh CA; Division of Genetics, Brigham and Women's Hospital, Boston, MA, USA.
Science ; 350(6256): 94-98, 2015 Oct 02.
Article en En | MEDLINE | ID: mdl-26430121
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.
Asunto(s)
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Transcripción Genética / Corteza Cerebral / Polimorfismo de Nucleótido Simple / Mutación / Neuronas Tipo de estudio: Prognostic_studies Límite: Adolescent / Female / Humans / Male Idioma: En Revista: Science Año: 2015 Tipo del documento: Article País de afiliación: Estados Unidos
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Transcripción Genética / Corteza Cerebral / Polimorfismo de Nucleótido Simple / Mutación / Neuronas Tipo de estudio: Prognostic_studies Límite: Adolescent / Female / Humans / Male Idioma: En Revista: Science Año: 2015 Tipo del documento: Article País de afiliación: Estados Unidos