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

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 ef...

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Veröffentlicht in:	Peptides (New York, N.Y. : 1980) N.Y. : 1980), 2024-12, Vol.182, p.171301, Article 171301
Hauptverfasser:	Liu, Xiaoxi, Cherepanov, Stanislav, Abouzari, Mehdi, Zuko, Amila, Yang, Shu, Sayadi, Jamasb, Jia, Xiaoyuan, Terao, Chikashi, Sasaki, Tsukasa, Yokoyama, Shigeru
Format:	Artikel
Sprache:	eng
Schlagworte:	autism Autism spectrum disorder Autism Spectrum Disorder - genetics Autism Spectrum Disorder - metabolism calcium Calcium - metabolism Cellular Biology Gain of Function Mutation genes Genetic Predisposition to Disease Genetic variation Genetics HEK293 Cells Human genetics Human health and pathology Humans Life Sciences loss-of-function mutation Mutation Mutation, Missense Oxytocin Oxytocin - genetics Oxytocin - metabolism Oxytocin receptor oxytocin receptors peptides Psychiatrics and mental health Receptors, Oxytocin - genetics Receptors, Oxytocin - metabolism
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