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Authors: Li Zhang, Dawei Fu, Pavel V. Belichenko, Chunhong Liu, Alexander M. Kleschevnikov, Annie Pao, Ping Liang, Steven J. Clapcote, William C. Mobley and Y. Eugene Yu

Li Zhang

Children’s Guild Foundation Down Syndrome Research Program and Department of Cancer Genetics; Roswell Park Cancer Institute; Buffalo, NY USA; Department of Physiology and Pathophysiology; Medical School of Xi'an Jiaotong University; Xi'an China
These authors contributed equally to this manuscript.

Dawei Fu

Children’s Guild Foundation Down Syndrome Research Program and Department of Cancer Genetics; Roswell Park Cancer Institute; Buffalo, NY USA
These authors contributed equally to this manuscript.

Pavel V. Belichenko

Department of Neurosciences; University of California at San Diego; School of Medicine; La Jolla, CA USA
These authors contributed equally to this manuscript.

Chunhong Liu

Children’s Guild Foundation Down Syndrome Research Program and Department of Cancer Genetics; Roswell Park Cancer Institute; Buffalo, NY USA

Alexander M. Kleschevnikov

Department of Neurosciences; University of California at San Diego; School of Medicine; La Jolla, CA USA

Annie Pao

Children’s Guild Foundation Down Syndrome Research Program and Department of Cancer Genetics; Roswell Park Cancer Institute; Buffalo, NY USA

Ping Liang

Department of Biological Sciences; Brock University; St. Catharines, ON Canada

Steven J. Clapcote

Institute of Membrane and Systems Biology; University of Leeds; Leeds, West Yorkshire UK

William C. Mobley

Department of Neurosciences; University of California at San Diego; School of Medicine; La Jolla, CA USA

Y. Eugene Yu

Corresponding author: Yuejin.Yu@RoswellPark.org
Children’s Guild Foundation Down Syndrome Research Program and Department of Cancer Genetics; Roswell Park Cancer Institute; Buffalo, NY USA; New York State Center of Excellence in Bioinformatics and Life Sciences; Buffalo, NY USA; Department of Cellular and Molecular Biology; Roswell Park Division of Graduate School; State University of New York at Buffalo; Buffalo, NY USA

Abstract:
Human trisomy 21 is the most frequent live-born human aneuploidy and causes a constellation of disease phenotypes classified as Down syndrome, which include heart defects, myeloproliferative disorder, cognitive disabilities and Alzheimer-type neurodegeneration. Because these phenotypes are associated with an extra copy of a human chromosome, the genetic analysis of Down syndrome has been a major challenge. To complement human genetic approaches, mouse models have been generated and analyzed based on evolutionary conservation between the human and mouse genomes. These efforts have been greatly facilitated by Cre/loxP-mediated mouse chromosome engineering, which may result in the establishment of minimal critical genomic regions and eventually new dosage-sensitive genes associated with Down syndrome phenotypes. The success in genetic analysis of Down syndrome will further enhance our understanding of this disorder and lead to better strategies in developing effective therapeutic interventions.

Received: May 31, 2011; Accepted: August 10, 2011

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