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

PloS one | Jan 25, 2012

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.

Pubmed ID: 22276124 RIS Download

Mesh terms: Absorptiometry, Photon | Animals | Behavior, Animal | Blotting, Southern | Cell Line | Chromosome Deletion | Chromosomes, Human, Pair 21 | Diet, High-Fat | Female | Haploinsufficiency | Humans | Immunohistochemistry | In Situ Hybridization, Fluorescence | Male | Maze Learning | Mice | Monosomy | Recognition (Psychology) | Reverse Transcriptase Polymerase Chain Reaction

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Associated grants

  • Agency: Wellcome Trust, Id: 098330
  • Agency: Cancer Research UK, Id: 13031
  • Agency: Cancer Research UK, Id:
  • Agency: Wellcome Trust, Id:

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