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PLoS One. 2012;7(1):e29681. doi: 10.1371/journal.pone.0029681. Epub 2012 Jan 20.

Modeling partial monosomy for human chromosome 21q11.2-q21.1 reveals haploinsufficient genes influencing behavior and fat deposition.

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1
Wellcome Trust Sanger Institute, Hinxton, Cambridge, United Kingdom.

Erratum in

  • PLoS One. 2012;7(3). doi: 10.1371/annotation/26a586df-e769-4efc-884f-6e7d448003bc.

Abstract

Haploinsufficiency of part of human chromosome 21 results in a rare condition known as Monosomy 21. This disease displays a variety of clinical phenotypes, including intellectual disability, craniofacial dysmorphology, skeletal and cardiac abnormalities, and respiratory complications. To search for dosage-sensitive genes involved in this disorder, we used chromosome engineering to generate a mouse model carrying a deletion of the Lipi-Usp25 interval, syntenic with 21q11.2-q21.1 in humans. Haploinsufficiency for the 6 genes in this interval resulted in no gross morphological defects and behavioral analysis performed using an open field test, a test of anxiety, and tests for social interaction were normal in monosomic mice. Monosomic mice did, however, display impaired memory retention compared to control animals. Moreover, when fed a high-fat diet (HFD) monosomic mice exhibited a significant increase in fat mass/fat percentage estimate compared with controls, severe fatty changes in their livers, and thickened subcutaneous fat. Thus, genes within the Lipi-Usp25 interval may participate in memory retention and in the regulation of fat deposition.

PMID:
22276124
PMCID:
PMC3262805
DOI:
10.1371/journal.pone.0029681
[Indexed for MEDLINE]
Free PMC Article
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