title: Genetic changes shaping the human brain.
abstract: The development and function of our brain are governed by a genetic blueprint, which reflects dynamic changes over the history of evolution. Recent progress in genetics and genomics, facilitated by next-generation sequencing and single-cell sorting, has identified numerous genomic loci that are associated with a neuroanatomical or neurobehavioral phenotype. Here, we review some of the genetic changes in both protein-coding and noncoding regions that affect brain development and evolution, as well as recent progress in brain transcriptomics. Understanding these genetic changes may provide novel insights into neurological and neuropsychiatric disorders, such as autism and schizophrenia.
authors.affiliation: Division of Genetics and Genomics, Manton Center for Orphan Disease, and Howard Hughes Medical Institute, Boston Children's Hospital, Boston, MA 02115, USA; Broad Institute of MIT and Harvard, Boston, MA 02115, USA; and Departments of Pediatrics and Neurology, Harvard Medical School, Boston, MA 02115, USA.
authors.forename: Byoung-Il
authors.initials: BI
authors.lastname: Bae
authors.affiliation: Division of Genetics and Genomics, Manton Center for Orphan Disease, and Howard Hughes Medical Institute, Boston Children's Hospital, Boston, MA 02115, USA; Broad Institute of MIT and Harvard, Boston, MA 02115, USA; and Departments of Pediatrics and Neurology, Harvard Medical School, Boston, MA 02115, USA.
authors.forename: Divya
authors.initials: D
authors.lastname: Jayaraman
authors.affiliation: Division of Genetics and Genomics, Manton Center for Orphan Disease, and Howard Hughes Medical Institute, Boston Children's Hospital, Boston, MA 02115, USA; Broad Institute of MIT and Harvard, Boston, MA 02115, USA; and Departments of Pediatrics and Neurology, Harvard Medical School, Boston, MA 02115, USA. Electronic address: christopher.walsh@childrens.harvard.edu.
authors.forename: Christopher A
authors.initials: CA
authors.lastname: Walsh
mesh_terms: D000818:Animals; D005075:Biological Evolution; D001921:Brain / Q000378:metabolism*; D030541:Databases, Genetic; D005786:Gene Expression Regulation / Q000235:genetics*; D023281:Genomics; D006801:Humans; D010641:Phenotype