Cis-regulatory architecture of human ESC-derived hypothalamic neuron differentiation aids in variant-to-gene mapping of relevant complex traits

• Published in: Nature communications Vol. 12; no. 1; p. 6749
• Main Authors: Pahl, Matthew C., Doege, Claudia A., Hodge, Kenyaita M., Littleton, Sheridan H., Leonard, Michelle E., Lu, Sumei, Rausch, Rick, Pippin, James A., De Rosa, Maria Caterina, Basak, Alisha, Bradfield, Jonathan P., Hammond, Reza K., Boehm, Keith, Berkowitz, Robert I., Lasconi, Chiara, Su, Chun, Chesi, Alessandra, Johnson, Matthew E., Wells, Andrew D., Voight, Benjamin F., Leibel, Rudolph L., Cousminer, Diana L., Grant, Struan F. A.
• Format: Journal Article
• Language: English
• Published: London Nature Publishing Group UK 19.11.2021; Nature Publishing Group; Nature Portfolio
• Subjects: 13/100; 14/63; 45/22; 45/23; 45/91; 631/208/177; 631/208/200; Body weight; Cell Differentiation - genetics; Cell Line; Chromatin; Chromosome Mapping; Differentiation; Endocrine system; Gene Expression Regulation, Developmental; Gene mapping; Gene regulation; Gene Regulatory Networks; Genes; Genome-Wide Association Study; High resolution; Homeostasis; Human Embryonic Stem Cells - physiology; Humanities and Social Sciences; Humans; Hypothalamus; Hypothalamus - cytology; Hypothalamus - embryology; multidisciplinary; Multifactorial Inheritance; Neurons - physiology; Pathogenesis; Regulatory Elements, Transcriptional - genetics; Regulatory sequences; RNA-Seq; Science; Science (multidisciplinary); Stem cells

The hypothalamus regulates metabolic homeostasis by influencing behavior and endocrine systems. Given its role governing key traits, such as body weight and reproductive timing, understanding the genetic regulation of hypothalamic development and function could yield insights into disease pathogenes...