title: Genome-wide identification and characterization of fixed human-specific regulatory regions.
abstract: Changes in gene regulatory networks are believed to have played an important role in the development of human-specific anatomy and behavior. We identified the human genome regions that show the typical chromatin marks of regulatory regions but cannot be aligned to other mammalian genomes. Most of these regions have become fixed in the human genome. Their regulatory targets are enriched in genes involved in neural processes, CNS development, and diseases such as autism, depression, and schizophrenia. Specific transposable elements contributing to the rewiring of the human regulatory network can be identified by the creation of human-specific regulatory regions. Our results confirm the relevance of regulatory evolution in the emergence of human traits and cognitive abilities and the importance of newly acquired genomic elements for such evolution.
authors.affiliation: Department of Molecular Biotechnology and Health Sciences, University of Turin, 10126 Turin, Italy.
authors.forename: Davide
authors.initials: D
authors.lastname: Marnetto
authors.affiliation: Department of Molecular Biotechnology and Health Sciences, University of Turin, 10126 Turin, Italy.
authors.forename: Ivan
authors.initials: I
authors.lastname: Molineris
authors.affiliation: Department of Molecular Biotechnology and Health Sciences, University of Turin, 10126 Turin, Italy.
authors.forename: Elena
authors.initials: E
authors.lastname: Grassi
authors.affiliation: Department of Molecular Biotechnology and Health Sciences, University of Turin, 10126 Turin, Italy; Center for Translational Genomics and Bioinformatics, San Raffaele Scientific Institute, 20132 Milan, Italy. Electronic address: paolo.provero@unito.it.
authors.forename: Paolo
authors.initials: P
authors.lastname: Provero
mesh_terms: D000818:Animals; D055106:Genome-Wide Association Study; D006801:Humans; D012045:Regulatory Sequences, Nucleic Acid; D013045:Species Specificity