Genetic variants of G-protein coupled receptors associated with pubertal disorders.

ABSTRACT:

Background

The 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.

Methods

Previous 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 findings

Of the six GPCRs, those encoded by KISS1R and TACR3 are likely to reside at the top of the HPG axis. Several loss-of-function variants in the six genes were shown to cause late/absent puberty. In particular, variants in KISS1R, TACR3

SUBMITTER: Suzuki E 

PROVIDER: S-EPMC10134480 | biostudies-literature | 2023 Jan-Dec

REPOSITORIES: biostudies-literature