title: [Mouse model for human chromosome abnormality].
abstract: Autism is a complex psychiatric illness which has received considerable attention as a developmental brain disorder. Substantial evidence suggests that chromosomal abnormalities contribute to autism risk. The duplication of human chromosome 15q11-13 is known to be the most frequent cytogenetic abnormality in autism. We have modeled this genetic change in mice using chromosome engineering to generate a 6.3-Mb duplication of the conserved linkage group on mouse chromosome 7. Mice with a paternal duplication display autistic behavioral features such as poor social interaction and stereotypical behavior, and exhibit abnormal ultrasonic vocalizations. This chromosome-engineered mouse model for autism seems to replicate various aspects of human autistic phenotypes and validates the relevance of the human chromosome abnormality. This model will be a founder mouse for forward genetics of autistic disease and an invaluable tool for its therapeutic development. I will present our analyses on these mice towards understanding the molecular pathophysiology of autism spectrum disorders.
authors.affiliation: Graduate School of Biomedical Sciences, Hiroshima University, Hiroshima, Japan. takumi@hiroshima-u.ac.jp
authors.forename: Toru
authors.initials: T
authors.lastname: Takumi
mesh_terms: D000818:Animals; D001321:Autistic Disorder / Q000235:genetics* / Q000503:physiopathology / Q000523:psychology; D001921:Brain / Q000378:metabolism; D002869:Chromosome Aberrations; D058674:Chromosome Duplication; D002884:Chromosomes, Human, Pair 15 / Q000235:genetics; D019175:DNA Methylation; D004195:Disease Models, Animal; D015870:Gene Expression / Q000235:genetics; D018392:Genomic Imprinting / Q000235:genetics; D006801:Humans; D007398:Interpersonal Relations; D051379:Mice; D012306:Risk; D012701:Serotonin / Q000378:metabolism; D013239:Stereotyped Behavior; D014828:Vocalization, Animal
chemical_list: D012701:Serotonin