Disruption of the homeodomain transcription factor orthopedia homeobox (Otp) is associated with obesity and anxiety.

ABSTRACT:

Objective

Genetic studies in obese rodents and humans can provide novel insights into the mechanisms involved in energy homeostasis.

Methods

In this study, we genetically mapped the chromosomal region underlying the development of severe obesity in a mouse line identified as part of a dominant N-ethyl-N-nitrosourea (ENU) mutagenesis screen. We characterized the metabolic and behavioral phenotype of obese mutant mice and examined changes in hypothalamic gene expression. In humans, we examined genetic data from people with severe early onset obesity.

Results

We identified an obese mouse heterozygous for a missense mutation (pR108W) in orthopedia homeobox (Otp), a homeodomain containing transcription factor required for the development of neuroendocrine cell lineages in

SUBMITTER: Moir L 

PROVIDER: S-EPMC5681237 | biostudies-literature | 2017 Nov

REPOSITORIES: biostudies-literature