Genetic analysis of Down syndrome facilitated by mouse chromosome engineering

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

Research output: Contribution to journalArticlepeer-review

8 Scopus citations


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 dosagesensitive 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.

Original languageEnglish (US)
Pages (from-to)8-12
Number of pages5
JournalBioengineered Bugs
Issue number1
StatePublished - Jan 2012
Externally publishedYes


  • Chromosome engineering
  • Down syndrome
  • Genetic dissection
  • Mouse models
  • Trisomy 21

ASJC Scopus subject areas

  • Biotechnology
  • Bioengineering
  • Applied Microbiology and Biotechnology


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