2023
DOI: 10.1002/rmb2.12515
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Genetic variants of G‐protein coupled receptors associated with pubertal disorders

Abstract: BackgroundThe human hypothalamic–pituitary‐gonadal (HPG) axis is the regulatory center for pubertal development. This axis involves six G‐protein coupled receptors (GPCRs) encoded by KISS1R, TACR3, PROKR2, GNRHR, LHCGR, and FSHR.MethodsPrevious studies have identified several rare variants of the six GPCR genes in patients with pubertal disorders. In vitro assays and animal studies have provided information on the function of wild‐type and variant GPCRs.Main FindingsOf the six GPCRs, those encoded by KISS1R an… Show more

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Cited by 4 publications
(2 citation statements)
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“…GPCRs play particularly important roles in the neurosensory and endocrine systems. The hypothalamic-pituitary–gonadal (HPG) axis in humans comprises at least six GPCRs whose genetic defects, alone or in combination with other gene variants, lead to puberty disorders [ 65 ]. Although alterations in the methylation of GPCR-associated signaling have been reported so far mainly in the development of certain types of tumors [ 66 68 ], epigenetic modifications of this pathway could also be linked to normal or early pubertal development [ 69 ].…”
Section: Discussionmentioning
confidence: 99%
“…GPCRs play particularly important roles in the neurosensory and endocrine systems. The hypothalamic-pituitary–gonadal (HPG) axis in humans comprises at least six GPCRs whose genetic defects, alone or in combination with other gene variants, lead to puberty disorders [ 65 ]. Although alterations in the methylation of GPCR-associated signaling have been reported so far mainly in the development of certain types of tumors [ 66 68 ], epigenetic modifications of this pathway could also be linked to normal or early pubertal development [ 69 ].…”
Section: Discussionmentioning
confidence: 99%
“…Additionally, GCs play a significant role in synthesizing and secreting steroid hormones, which are crucial regulators of reproductive function and under tight control by the hypothalamic–pituitary–gonadal (HPG) axis [ 11 , 12 ]. Receptors in the GCs membrane, including follicle-stimulating hormone receptor (FSHR) and luteinizing hormone/choriogonadotropin receptor (LHCGR), bind to the corresponding pituitary-secreted gonadotropins [ 13 ]. Both FSHR and LHCGR play critical roles in facilitating successful follicular development and ovulation.…”
Section: Introductionmentioning
confidence: 99%