{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Kawauchi Y"],"funding":["Japan Society for the Promotion of Science KAKENHI grants"],"pagination":["119"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC12785802"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["27(1)"],"pubmed_abstract":["Mutations in the POU1F1 gene cause defects in the expression of the genes encoding thyroid-stimulating hormone (TSH)-β subunit, growth hormone (GH), and prolactin (PRL). Here, we characterized 15 missense and nonsense mutations. Protein stability was reduced in the P14L, P24L, F135C, K145X, F233S and E250X mutants. Transactivation by 15 mutants in the TSHβ promoter was moderately correlated with that of the PRL promoter. Based on their transcriptional activity, we classified them into three groups: group I, equivalent to the wild type; group II, partial; and group III, substantially lost. A review of case reports on four patients with group II mutations revealed that TSH deficiency manifested after recombinant GH therapy. A transcription factor, GATA2, is the main activator in the TSHβ gen"],"journal":["International journal of molecular sciences"],"pubmed_title":["Functional Properties of POU1F1 Mutants in the Transcriptional Regulation of the Thyrotropin β Gene Compared with the Prolactin Gene."],"pmcid":["PMC12785802"],"funding_grant_id":["15K09425, 24K10950, and 21K08226"],"pubmed_authors":["Suda T","Tsuriya D","Nakamura HM","Ohba K","Matsushita A","Tanaka T","Sasaki S","Kakizawa K","Kawauchi Y","Yamashita M"],"additional_accession":[]},"is_claimable":false,"name":"Functional Properties of POU1F1 Mutants in the Transcriptional Regulation of the Thyrotropin β Gene Compared with the Prolactin Gene.","description":"Mutations in the POU1F1 gene cause defects in the expression of the genes encoding thyroid-stimulating hormone (TSH)-β subunit, growth hormone (GH), and prolactin (PRL). Here, we characterized 15 missense and nonsense mutations. Protein stability was reduced in the P14L, P24L, F135C, K145X, F233S and E250X mutants. Transactivation by 15 mutants in the TSHβ promoter was moderately correlated with that of the PRL promoter. Based on their transcriptional activity, we classified them into three groups: group I, equivalent to the wild type; group II, partial; and group III, substantially lost. A review of case reports on four patients with group II mutations revealed that TSH deficiency manifested after recombinant GH therapy. A transcription factor, GATA2, is the main activator in the TSHβ gen","dates":{"release":"2025-01-01T00:00:00Z","publication":"2025 Dec","modification":"2026-05-30T03:14:49.378Z","creation":"2026-05-30T03:10:46.621Z"},"accession":"S-EPMC12785802","cross_references":{"pubmed":["41516000"],"doi":["10.3390/ijms27010119"]}}