Epigenetic profiling reveals key genes and cis-regulatory networks specific to human parathyroids

Youngsook Lucy Jung (), Wenping Zhao, Ian Li, Dhawal Jain, Charles B. Epstein, Bradley E. Bernstein, Sareh Parangi, Richard Sherwood, Cassianne Robinson-Cohen, Yi-Hsiang Hsu, Peter J. Park and Michael Mannstadt ()
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Youngsook Lucy Jung: Harvard Medical School
Wenping Zhao: Massachusetts General Hospital and Harvard Medical School
Ian Li: Massachusetts General Hospital and Harvard Medical School
Dhawal Jain: Harvard Medical School
Charles B. Epstein: Broad Institute of MIT and Harvard
Bradley E. Bernstein: Broad Institute of MIT and Harvard
Sareh Parangi: Harvard Medical School
Richard Sherwood: Brigham and Women’s Hospital and Harvard Medical School
Cassianne Robinson-Cohen: Vanderbilt University Medical Center
Yi-Hsiang Hsu: Hebrew Senior Life
Peter J. Park: Harvard Medical School
Michael Mannstadt: Massachusetts General Hospital and Harvard Medical School

Nature Communications, 2024, vol. 15, issue 1, 1-13

Abstract: 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.

Date: 2024
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DOI: 10.1038/s41467-024-46181-3

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