NIH R01 · 2024
Control of allelic Gsα expression for regulating hormone signaling
Abstract The α-subunit of the stimulatory G protein (Gsα) mediates the signaling of many hormones, autocrine/paracrine factors, and neurotransmitters. Gsα and its gene, the GNAS complex locus, are central to many human disorders with perturbed hormone actions and skeletal development. A distinctive way Gsα signaling is regulated involves the control of allelic Gsα expression. While Gsα is produced from both parental GNAS alleles in most cells, including growth plate chondrocytes and osteoblasts, it is derived predominantly from the maternal allele in specific cells/tissues, most prominently renal proximal tubules and thyroid cells. This monoallelic expression plays a crucial role in…
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