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Article

Functional Properties of POU1F1 Mutants in the Transcriptional Regulation of the Thyrotropin β Gene Compared with the Prolactin Gene.

International journal of molecular sciences - 22 Dec 2025

Kawauchi Yuto, Sasaki Shigekazu, Matsushita Akio, Nakamura Hiroko Misawa, Yamashita Miho, Kakizawa Keisuke, Ohba Kenji, Tsuriya Daisuke, Tanaka Tomohiro, Suda Takafumi

Abstract excerpt

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...

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Share to GATA2 Transcription Factor
Share to Gene Expression Regulation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Promoter Regions, Genetic

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Source

Open in PubMed Open full text

Identifiers

PMID: 41516000
DOI: 10.3390/ijms27010119
PMCID: PMC12785802

Genes

POU1F1
PRL
GATA2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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