Bioinformatics Database
PTH1R: Parathyroid hormone 1 receptor
Cellular Process
Tooth Eruption
Gene Name
PTH1R: Parathyroid hormone 1 receptor
Gene ID
5745
Gene Sequence
General Description
The protein encoded by this gene is a member of the G-protein coupled receptor family 2. This protein is a receptor for parathyroid hormone (PTH) and for parathyroid hormone-like hormone (PTHLH). The activity of this receptor is mediated by G proteins which activate adenylyl cyclase and also a phosphatidylinositol-calcium second messenger system. Defects in this receptor are known to be the cause of Jansen's metaphyseal chondrodysplasia (JMC), chondrodysplasia Blomstrand type (BOCD), as well as enchodromatosis.
Alternative titles; symbols
PARATHYROID HORMONE RECEPTOR 1; PTHR1 PTH RECEPTOR; PTHR PARATHYROID HORMONE/PARATHYROID HORMONE-RELATED PROTEIN RECEPTOR PTH/PTHRP RECEPTOR
Chromosome
Chromosome 3
Cytogenetic location
3p21.31
Encoded Protein
Parathyroid hormone/parathyroid hormone-related peptide receptor precursor
Function of the protein in oral and tooth development
Bone remodeling plays an essential role during tooth eruption, suggesting that a role for parathyroid hormone 1 receptor (PTH1R) in tooth development. Cui et al., (2020) found that mice with conditional deletion of PTH1R exhibited arrested mandibular incisor eruption and delayed molar eruption.
Dental and Oral Diseases
Primary failure of tooth eruption (PFE)
OMIM ID: 125350
Primary failure of tooth eruption (PFE) is an autosomal dominant disorder in which nonankylosed posterior teeth fail to move along the eruption path cleared for them, resulting in a posterior open bite.
Protein Sequence
>NP_000307.1 parathyroid hormone/parathyroid hormone-related peptide receptor precursor [Homo sapiens]
MGTARIAPGLALLLCCPVLSSAYALVDADDVMTKEEQIFLLHRAQAQCEKRLKEVLQRPASIMESDKGWT
SASTSGKPRKDKASGKLYPESEEDKEAPTGSRYRGRPCLPEWDHILCWPLGAPGEVVAVPCPDYIYDFNH
KGHAYRRCDRNGSWELVPGHNRTWANYSECVKFLTNETREREVFDRLGMIYTVGYSVSLASLTVAVLILA
YFRRLHCTRNYIHMHLFLSFMLRAVSIFVKDAVLYSGATLDEAERLTEEELRAIAQAPPPPATAAAGYAG
CRVAVTFFLYFLATNYYWILVEGLYLHSLIFMAFFSEKKYLWGFTVFGWGLPAVFVAVWVSVRATLANTG
CWDLSSGNKKWIIQVPILASIVLNFILFINIVRVLATKLRETNAGRCDTRQQYRKLLKSTLVLMPLFGVH
YIVFMATPYTEVSGTLWQVQMHYEMLFNSFQGFFVAIIYCFCNGEVQAEIKKSWSRWTLALDFKRKARSG
SSSYSYGPMVSHTSVTNVGPRVGLGLPLSPRLLPTATTNGHPQLPGHAKPGTPALETLETTPPAMAAPKD
DGFLNGSCSGLDEEASGPERPPALLQEEWETVM
Mutations
Primary failure of tooth eruption (PFE)
IVS11AS, C-G, -3:
Decker et al. (2008) identified heterozygosity for a -3C-G splice site transversion in intron 11 (1050-3C-G) of the PTHR1 gene. Functional studies using gingival tissue from an affected individual showed that the mutant allele results in complete exclusion of exon 12, predicted to cause a frameshift at codon 351 and inclusion of 133 PTHR1-unrelated C-terminal amino acids.
IVS8DS, G-A, +1 :
Decker et al. (2008) identified heterozygosity for a +1G-A splice site transition in intron 8 (543+1G-A) of the PTHR1 gene. Minigene reporter assay analysis demonstrated loss of the donor splice site, predicting a frameshift and premature termination of the protein.
GLU155TER:
Decker et al. (2008) identified heterozygosity for a 463G-T transversion in the PTHR1 gene, predicted to result in a glu155-to-ter (E155X) substitution.
Related Literature
Decker, E., Stellzig-Eisenhauer, A., Fiebig, B. S., Rau, C., Kress, W., Saar, K., Rüschendorf, F., Hubner, N., Grimm, T., & Weber, B. H. (2008). PTHR1 loss-of-function mutations in familial, nonsyndromic primary failure of tooth eruption. American journal of human genetics, 83(6), 781–786. https://doi.org/10.1016/j.ajhg.2008.11.006
Cui, C., Bi, R., Liu, W., Guan, S., Li, P., Song, D., Xu, R., Zheng, L., Yuan, Q., Zhou, X., & Fan, Y. (2020). Role of PTH1R Signaling in Prx1+ Mesenchymal Progenitors during Eruption. Journal of dental research, 99(11), 1296–1305. https://doi.org/10.1177/0022034520934732
