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Human Molecular Genetics Advance Access published online on May 10, 2008
Human Molecular Genetics, doi:10.1093/hmg/ddn148
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© The Author 2008. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oxfordjournals.org

Abnormal social behaviors and altered gene expression rates in a mouse model for Potocki-Lupski Syndrome

Jessica Molina1,2, Paulina Carmona Mora1,2, Jacqueline Chrast3, Paola M. Krall1,2, César P. Canales1,2, James R. Lupski4,5,6, Alexandre Reymond3 and Katherina Walz1,*

1 Centro de Estudios Científicos, CECS, Valdivia, Chile, Lausanne, Switzerland 2 Universidad Austral de Chile, Valdivia, Chile, Lausanne, Switzerland 3 The Center for Integrative Genomics, University of Lausanne, Lausanne, Switzerland 4 Departments of Molecular & Human Genetics and Houston, Texas, USA 5 Departments of Pediatrics, Baylor College of Medicine and Houston, Texas, USA 6 Texas Children's Hospital, Houston, Texas, USA

* Corresponding Author: Katherina Walz, Ph.D., Avda. Prat 514, 5110246, Valdivia, Chile. e-mail: kwalz{at}cecs.cl FAX: (56) 63-234517 Phone: (56) 63-234514

Received February 27, 2008; Revised May 7, 2008; Accepted May 7, 2008

The Potocki-Lupski syndrome (PTLS) is associated with a microduplication of 17p11.2. Clinical features include multiple congenital and neurobehavioral abnormalities and autistic features. We have generated a PTLS mouse model, Dp(11)17/+, that recapitulates some of the physical and neurobehavioral phenotypes present in patients. Here we investigated the social behavior and gene expression pattern of this mouse model in a pure genetic background. Dp(11)17/+ male mice displayed normal home cage behavior but increased anxiety and increased dominant behavior in specific tests. A subtle impairment in the preference for a social target vs. an inanimate target and abnormal preference for social novelty (the preference to explore an unfamiliar mouse versus a familiar one) was also observed. Our results indicate that these animals could provide a valuable model to identify the specific gene(s) that confer abnormal social behaviors and that map within this delimited genomic deletion interval. In a first attempt to identify candidate genes and for elucidating the mechanisms of regulation of these important phenotypes we directly assessed the relative transcription of genes within and around this genomic interval. In this mouse model we found that candidates genes include not only most of the duplicated genes, but also normal-copy genes that flank the engineered interval; both categories of genes showed altered expression levels in the hippocampus of Dp(11)17/+ mice.

GEO Series accession number: GSE11013


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