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Updated: May 27, 2025

Prediction and Validation of Gene Regulatory Elements Activated During Retinoic Acid Induced Embryonic Stem Cell Differentiation
Published on: June 21, 2016
Functional characterization of OXTR-associated enhancers
Dianne Laboy Cintrón1,2, Rory R Sheng1,2, Nadav Ahituv1,2
1Department of Bioengineering and Therapeutic Sciences, University of California San Francisco, 1700 4th St, Byers Hall, San Francisco, CA 94158, United States.
Researchers identified novel regulatory elements for the oxytocin receptor (OXTR), a gene crucial for social behavior. A key enhancer, OCE7, was found active in the mouse olfactory bulb, offering new insights into OXTR gene regulation.
Area of Science:
- Neuroscience
- Genetics
- Molecular Biology
Background:
- The oxytocin receptor (OXTR) regulates critical human behaviors including social bonding, maternal care, and anxiety.
- Understanding OXTR's regulatory elements is essential for deciphering how genetic variations influence behavior.
Purpose of the Study:
- To identify and characterize cis-regulatory elements (cCREs) of the OXTR gene.
- To investigate the functional activity of these cCREs in cellular and animal models.
Main Methods:
- Analysis of single-cell RNA/ATAC-seq data from mouse and human hypothalamus to identify candidate OXTR cCREs.
- Luciferase assays in hypothalamus cell lines to test enhancer function.
- In vivo enhancer assays in mice to determine activity patterns and locations.
Main Results:
- Seven candidate OXTR cCREs were identified.
- Three of these cCREs demonstrated functional enhancer activity in cell lines.
- OXTR candidate enhancer 7 (OCE7) showed robust activity in the mouse olfactory bulb at different developmental stages.
Conclusions:
- The study successfully characterized the regulatory landscape of the OXTR gene.
- A novel OXTR-associated enhancer (OCE7) in the olfactory bulb was identified, potentially influencing behavior-related gene expression.
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