Title |
Modeling Partial Monosomy for Human Chromosome 21q11.2-q21.1 Reveals Haploinsufficient Genes Influencing Behavior and Fat Deposition
|
---|---|
Published in |
PLOS ONE, January 2012
|
DOI | 10.1371/journal.pone.0029681 |
Pubmed ID | |
Authors |
Anna M. Migdalska, Louise van der Weyden, Ozama Ismail, Jacqueline K. White, Sanger Mouse Genetics Project, Gabriela Sánchez-Andrade, Darren W. Logan, Mark J. Arends, David J. Adams |
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. |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Unknown | 22 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Researcher | 8 | 36% |
Student > Master | 5 | 23% |
Student > Ph. D. Student | 4 | 18% |
Lecturer | 1 | 5% |
Student > Postgraduate | 1 | 5% |
Other | 0 | 0% |
Unknown | 3 | 14% |
Readers by discipline | Count | As % |
---|---|---|
Medicine and Dentistry | 5 | 23% |
Neuroscience | 4 | 18% |
Agricultural and Biological Sciences | 3 | 14% |
Biochemistry, Genetics and Molecular Biology | 2 | 9% |
Psychology | 1 | 5% |
Other | 3 | 14% |
Unknown | 4 | 18% |