GPCR signalling

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SEEK ID: https://sandbox9.fairdomhub.org/investigations/26

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Created: 16th Jun 2021 at 10:22

Last updated: 16th Jun 2021 at 11:21

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Institutions: Training Institution

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SEEK is introduced as a data and model management platform fitted to the needs of systems biologists to provide data access and storage due to the FAIR principles.

Programme: This Project is not associated with a Programme

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Organisms: Homo sapiens, Sulfolobus solfataricus, Hirundo rustica, Mus musculus, Rattus norvegicus

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Functional characterization of PTH1R mutations causing pseudohypoparathyroidism

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Investigation: GPCR signalling

Assays: Modelling GPCR signalling, PTHR1 SNP variants

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Created: 16th Jun 2021 at 10:28, Last updated: 16th Jun 2021 at 11:21

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PTHR1 SNP variants

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Assay type: SNP Detection

Technology type: SNP Array

Investigation: GPCR signalling

Study: Functional characterization of PTH1R mutations ...

Organisms: Homo sapiens

SOPs: No SOPs

Data files: PDB 6NBF PTH1R, PDB 6NBF PTH1R Fasta, PTH1R SNP variants and 2 hidden items

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Created: 16th Jun 2021 at 10:33, Last updated: 11th Oct 2022 at 16:38

Modelling GPCR signalling

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Biological problem addressed: Model Analysis Type

Investigation: GPCR signalling

Study: Functional characterization of PTH1R mutations ...

Organisms: Homo sapiens

Models: BIOMD 842: Heitzler2012 - GPCR signalling

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Data files: 1 hidden item

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Created: 16th Jun 2021 at 11:11, Last updated: 11th Oct 2022 at 16:17

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PDB 6NBF PTH1R

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Investigations: GPCR signalling

Studies: Functional characterization of PTH1R mutations ...

Assays: PTHR1 SNP variants

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Created: 16th Jun 2021 at 10:37, Last updated: 12th Oct 2022 at 06:21

PDB 6NBF PTH1R Fasta

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Investigations: GPCR signalling

Studies: Functional characterization of PTH1R mutations ...

Assays: PTHR1 SNP variants

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Created: 16th Jun 2021 at 10:39, Last updated: 16th Jun 2021 at 11:21

PTH1R SNP variants

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Investigations: GPCR signalling

Studies: Functional characterization of PTH1R mutations ...

Assays: PTHR1 SNP variants

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Created: 16th Jun 2021 at 11:04

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BIOMD 842: Heitzler2012 - GPCR signalling

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Model type: Ordinary differential equations (ODE)

Model format: SBML

Environment: Not specified

Organism: Not specified

Investigations: GPCR signalling

Studies: Functional characterization of PTH1R mutations ...

Assays: Modelling GPCR signalling

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Created: 16th Jun 2021 at 11:14, Last updated: 16th Jun 2021 at 11:21

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Characterization of a PTH1R missense mutation responsible for Jansen type metaphyseal chondrodysplasia.

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Abstract (Expand)

Parathyroid hormone and parathyroid hormone-related peptide (PTHrP), and its receptor (PTH1R) play an important role in differentiation of bone and cartilage in the developing stages. Constitutive … dimers of PTH1R are believed to be dissociated by ligand binding, and monomeric PTH1R is capable of activating G protein. Jansen type metaphyseal chondrodysplasia is caused by missense mutations in PTH1R, which are constitutively active even without the presence of the ligands. However, the underlying pathomechanisms remained largely unknown. In this study, we have attempted to further characterize a PTH1R missense mutation H223R responsible for Jansen type metaphyseal chondrodysplasia. cDNAs encoding wild-type (Wt)- and H223R mutant (Mut)-PTH1R were transfected into HEK293T cells, and as a consequence of western blots, both the Wt- and Mut-PTH1R proteins showed several fragments between 55 and 65 kDa in size, while the patterns of N-glycosylation were distinct between them. Then we hypothesized that the Mut-PTH1R might physically interact with the Wt-PTH1R, leading to affect the downstream cAMP accumulation. Co-immunoprecipitation assays clearly showed that interaction occurred not only between the Wt-PTH1R themselves, but also between the Wt- and Mut-PTH1R. Furthermore, we performed CRE reporter assays to investigate cAMP accumulation. Constitutive, ligand-independent cAMP accumulation was observed in HEK293T cells expressing the Mut-PTH1R. Interestingly, there was a statistically lower constitutive activity in HEK293T cells co-expressing the Wt- and Mut-PTH1R proteins. Summarizing, it seems likely that Mut-PTH1R may be, at least in part, co-localized with Wt-PTH1R by forming a heterodimer, leading to affect the function to each other.

Authors: J. Shimomura-Kuroki, M. Farooq, T. Sekimoto, N. Amizuka, Y. Shimomura

Date Published: 11th May 2016

Publication Type: Journal

PubMed ID: 27160269

Citation: Odontology. 2017 Apr;105(2):150-154. doi: 10.1007/s10266-016-0247-4. Epub 2016 May 9.

Created: 16th Jun 2021 at 10:25

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