ArticleJournal of cellular and molecular medicine2017
Paradoxical gain-of-function mutant of the G-protein-coupled receptor PROKR2 promotes early puberty.
Article in Journal of cellular and molecular medicine, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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Who cites it
19 citing papers in PubMed, 28 citations in OpenAlex.
- Idiopathic Central Precocious Puberty in Boys: Results from a National Portuguese Cohort.Hormone research in paediatrics · 2026Article
- Genetic Polymorphisms of Prokineticins and Prokineticin Receptors Associated with Human Disease.Life (Basel, Switzerland) · 2024Review
- Novel variants ensued genomic imprinting in familial central precocious puberty.Journal of endocrinological investigation · 2024Article
- Therapeutic Potential of Targeting Prokineticin Receptors in Diseases.Pharmacological reviews · 2023Review
- A new DLK1 defect in a family with idiopathic central precocious puberty: elucidation of the male phenotype.Journal of endocrinological investigation · 2023Article
- Phenotypic and genotypic landscape of PROKR2 in neuroendocrine disorders.Frontiers in endocrinology · 2023Review
- Prokineticin-Receptor Network: Mechanisms of Regulation.Life (Basel, Switzerland) · 2022Review
- Genetic causes of central precocious puberty.Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology · 2022Review
- A review of the genetics and epigenetics of central precocious puberty.Frontiers in endocrinology · 2022Review
- Methylation status of hypothalamicFrontiers in endocrinology · 2022Article
- Molecular screening of PROKR2 gene in girls with idiopathic central precocious puberty.Italian journal of pediatrics · 2021Observational
- Peripheral Precocious Puberty of Ovarian Origin in a Series of 18 Girls: Exome Study Finds Variants in Genes Responsible for Hypogonadotropic Hypogonadism.Frontiers in pediatrics · 2021Article
- CRISPR/Cas9 mediated mutation of the mtnr1a melatonin receptor gene causes rod photoreceptor degeneration in developing Xenopus tropicalis.Scientific reports · 2020Article
- (Epi)genetic defects ofHuman genome variation · 2019Article
- Central Precocious Puberty Caused by Novel Mutations in the Promoter and 5'-UTR Region of the ImprintedFrontiers in endocrinology · 2019Article
- Modeling mutant/wild-type interactions to ascertain pathogenicity of PROKR2 missense variants in patients with isolated GnRH deficiency.Human molecular genetics · 2018Article
- Article
- Next generation sequencing and array-based comparative genomic hybridization for molecular diagnosis of pediatric endocrine disorders.Annals of pediatric endocrinology & metabolism · 2017Review
- Genetic variants of G-protein coupled receptors associated with pubertal disorders.Reproductive medicine and biologyReview
Corrections and comments
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Authors and funding
15 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The human genome encodes ~750 G-protein-coupled receptors (GPCRs), including prokineticin receptor 2 (PROKR2) involved in the regulation of sexual maturation. Previously reported pathogenic gain-of-function mutations of GPCR genes invariably encoded aberrant receptors with excessive signal transduction activity. Although in vitro assays demonstrated that an artificially created inactive mutant of PROKR2 exerted paradoxical gain-of-function effects when co-transfected with wild-type proteins, such a phenomenon has not been observed in vivo. Here, we report a heterozygous frameshift mutation of PROKR2 identified in a 3.5-year-old girl with central precocious puberty. The mutant mRNA escaped nonsense-mediated decay and generated a GPCR lacking two transmembrane domains and the carboxyl-terminal tail. The mutant protein had no in vitro signal transduction activity; however, cells co-expressing the mutant and wild-type PROKR2 exhibited markedly exaggerated ligand-induced Ca
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