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Human Molecular Genetics Advance Access originally published online on April 5, 2007
Human Molecular Genetics 2007 16(11):1359-1366; doi:10.1093/hmg/ddm086
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© The Author 2007. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oxfordjournals.org

Duplication of the entire 22.9 Mb human chromosome 21 syntenic region on mouse chromosome 16 causes cardiovascular and gastrointestinal abnormalities

Zhongyou Li1,{dagger}, Tao Yu1,{dagger}, Masae Morishima3,{ddagger}, Annie Pao1, Jeffrey LaDuca1, Jeffrey Conroy1, Norma Nowak1,2, Sei-Ichi Matsui1, Isao Shiraishi3 and Y. Eugene Yu1,2,*

1 Department of Cancer Genetics and Center for Genetics and Pharmacology, Roswell Park Cancer Institute, Buffalo, NY 14263, USA, 2 New York State Center of Excellence in Bioinformatics and Life Sciences, Buffalo, NY 14263, USA and 3 Department of Pediatric Cardiology and Nephrology, Kyoto Prefectural University of Medicine, Kamigyo, Kyoto 602-8566, Japan

* To whom correspondence should be addressed at: Department of Cancer Genetics and Center for Genetics and Pharmacology, Roswell Park Cancer Institute, Elm and Carlton Streets, Buffalo, NY 14263, USA. Tel: +1 7168451099; Fax: +1 7168451698; Email: yuejin.yu{at}roswellpark.org

Received December 29, 2006; Accepted March 31, 2007

Down syndrome is caused by a genomic imbalance of human chromosome 21 which is mainly observed as trisomy 21. The regions on human chromosome 21 are syntenically conserved in three regions on mouse chromosomes 10, 16 and 17. Ts65Dn mice, the most widely used model for Down syndrome, are trisomic for ~56.5% of the human chromosome 21 syntenic region on mouse chromosome 16. To generate a more complete trisomic mouse model of Down syndrome, we have established a 22.9 Mb duplication spanning the entire human chromosome 21 syntenic region on mouse chromosome 16 in mice using Cre/loxP-mediated long-range chromosome engineering. The presence of the intact duplication in mice was confirmed by fluorescent in situ hybridization and BAC-based array comparative genomic hybridization. The expression levels of the genes within the duplication interval reflect gene-dosage effects in the mutant mice. The cardiovascular and gastrointestinal phenotypes of the mouse model were similar to those of patients with Down syndrome. This new mouse model represents a powerful tool to further understand the molecular and cellular mechanisms of Down syndrome.

{dagger} The authors wish it to be known that, in their opinion, the first two authors should be regarded as joint First Authors.

{ddagger} Present address: International Research and Educational Institute for Integrated Medical Sciences, Tokyo Women's Medical University, Tokyo 162-8666, Japan.


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