R150S mutation in the human oxytocin receptor: Gain-of-function effects and implication in autism spectrum disorder.

doi:10.1016/j.peptides.2024.171301

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Article

R150S mutation in the human oxytocin receptor: Gain-of-function effects and implication in autism spectrum disorder.

Peptides - 1 Dec 2024

Liu Xiaoxi, Cherepanov Stanislav, Abouzari Mehdi, Zuko Amila, Yang Shu, Sayadi Jamasb, Jia Xiaoyuan, Terao Chikashi, Sasaki Tsukasa, Yokoyama Shigeru

Abstract excerpt

This study investigates the rs547238576 (R150S) missense variant in the oxytocin receptor (OXTR) gene, previously observed through screening of rare variants in Japanese individuals with autism spectrum disorders (ASD). Contrary to the anticipated loss-of-function, R150S exhibits gain-of-function effects, enhancing oxytocin (OXT) sensitivity, ligand-binding affinity, and OXT-induced Ca2+ mobilization in vitro....

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PMID: 39395443
DOI: 10.1016/j.peptides.2024.171301

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OXT
OXTR

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