We found a match
Your institution may have rights to this item. Sign in to continue.
- Title
Epigenetic profiling reveals key genes and cis-regulatory networks specific to human parathyroids.
- Authors
Jung, Youngsook Lucy; Zhao, Wenping; Li, Ian; Jain, Dhawal; Epstein, Charles B.; Bernstein, Bradley E.; Parangi, Sareh; Sherwood, Richard; Robinson-Cohen, Cassianne; Hsu, Yi-Hsiang; Park, Peter J.; Mannstadt, Michael
- Abstract
In all terrestrial vertebrates, the parathyroid glands are critical regulators of calcium homeostasis and the sole source of parathyroid hormone (PTH). Hyperparathyroidism and hypoparathyroidism are clinically important disorders affecting multiple organs. However, our knowledge regarding regulatory mechanisms governing the parathyroids has remained limited. Here, we present the comprehensive maps of the chromatin landscape of the human parathyroid glands, identifying active regulatory elements and chromatin interactions. These data allow us to define regulatory circuits and previously unidentified genes that play crucial roles in parathyroid biology. We experimentally validate candidate parathyroid-specific enhancers and demonstrate their integration with GWAS SNPs for parathyroid-related diseases and traits. For instance, we observe reduced activity of a parathyroid-specific enhancer of the Calcium Sensing Receptor gene, which contains a risk allele associated with higher PTH levels compared to the wildtype allele. Our datasets provide a valuable resource for unraveling the mechanisms governing parathyroid gland regulation in health and disease.Parathyroid glands are crucial for balancing blood calcium levels. Here, the authors generate comprehensive maps of the chromatin landscape of human parathyroids, linking identified regulatory elements to key functions in calcium homeostasis.
- Publication
Nature Communications, 2024, Vol 15, Issue 1, p1
- ISSN
2041-1723
- Publication type
Article
- DOI
10.1038/s41467-024-46181-3