title: Diametric gene-dosage effects as windows into neurogenetic architecture.
abstract: Gene expression can be modulated in two opposite directions, towards higher or lower amounts of product. How do diametric changes in gene dosage influence neurological development and function? Recent studies of transgenic and knockout mouse models, genomic copy-number variants, imprinted-gene expression alterations, and sex-chromosome aneuploidies are revealing examples of 'mirror-extreme' brain and behavior phenotypes, which provide unique insights into neurodevelopmental architecture. These convergent studies quantitatively connect gene dosages with specific trajectories and outcomes, with important implications for the experimental dissection of normal neurological functions, the genetic analysis of psychiatric disorders, the development of pharmacological therapies, and mechanisms for the evolution of human brain and behavior.
authors.affiliation: Department of Biological Sciences, Simon Fraser University, Burnaby, British Columbia V5A 1S6, Canada. crespi@sfu.ca
authors.forename: Bernard
authors.initials: B
authors.lastname: Crespi
mesh_terms: D000818:Animals; D005075:Biological Evolution; D001921:Brain; D018628:Gene Dosage; D006801:Humans; D010641:Phenotype