ArticleHuman molecular genetics2016
Functional characterization of a human POU1F1 mutation associated with isolated growth hormone deficiency: a novel etiology for IGHD.
Article in Human molecular genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers, 1 of them a synthesis that pooled it.
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Who cites it
24 citing papers in PubMed, 1 synthesis or guideline pooled it, 46 citations in OpenAlex.
- Pooled it
- Unraveling the Genetic Heterogeneity of Isolated Growth Hormone Deficiency: Insights from the GENHYPOPIT Cohort.Hormone research in paediatrics · 2026Article
- Functional Properties of POU1F1 Mutants in the Transcriptional Regulation of the Thyrotropin β Gene Compared with the Prolactin Gene.International journal of molecular sciences · 2025Article
- Short Stature Due to a Novel Compound Heterozygous Mutation of theJCEM case reports · 2025Article
- A functional SNP of the core promoter region within goat CFrontiers in veterinary science · 2024Article
- Elucidation of the genetic determination of clutch traits in Chinese local chickens of the Laiwu Black breed.BMC genomics · 2023Article
- Osmosensitive transcription factors in the prolactin cell of a euryhaline teleost.Comparative biochemistry and physiology. Part A, Molecular & integrative physiology · 2023Article
- Article
- POU1F1/Pou1f1 c.143-83A > G Variant Disrupts the Branch Site in Pre-mRNA and Leads to Dwarfism.Endocrinology · 2022Article
- A Novel Splice-Site Deletion in theGenes · 2022Article
- Cushing disease due to a somaticArchives of endocrinology and metabolism · 2022Article
- Congenital hypopituitarism due to novel compound heterozygousMolecular genetics and metabolism reports · 2021Article
- Intronic variant in POU1F1 associated with canine pituitary dwarfism.Human genetics · 2021Article
- High-throughput splicing assays identify missense and silent splice-disruptive POU1F1 variants underlying pituitary hormone deficiency.American journal of human genetics · 2021Article
- Polymorphism of the growth hormone gene GH1 in Polish children and adolescents with short stature.Endocrine · 2020Article
- Relationship between SNPs ofAnimals : an open access journal from MDPI · 2019Article
- Functional Annotation of the Transcriptome of the Pig,Frontiers in genetics · 2019Article
- Extreme Short Stature and Severe Neurological Impairment in a 17-Year-Old Male With Untreated Combined Pituitary Hormone Deficiency Due toFrontiers in endocrinology · 2019Article
- Association of polymorphisms in Pit-1 gene with growth and feed efficiency in meat-type chickens.Asian-Australasian journal of animal sciences · 2018Article
- Innovative Approach of Non-Thermal Plasma Application for Improving the Growth Rate in Chickens.International journal of molecular sciences · 2018Article
Corrections and comments
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Authors and funding
13 authors at 4 institutions in 2 countries.
Funding
Abstract
POU1F1, a pituitary-specific POU-homeo domain transcription factor, plays an essential role in the specification of the somatotroph, lactotroph and thyrotroph lineages and in the activation of GH1, PRL and TSHβ transcription. Individuals with mutations in POU1F1 present with combined deficiency of GH, PRL and TSH. Here, we identified a heterozygous missense mutation with evidence of pathogenicity, at the POU1F1 locus, in a large family in which an isolated growth hormone deficiency segregates as an autosomal dominant trait. The corresponding p.Pro76Leu mutation maps to a conserved site within the POU1F1 transactivation domain. Bandshift assays revealed that the mutation alters wild-type POU1F1 binding to cognate sites within the hGH-LCR and hGH1 promoter, but not to sites within the PRL promoter, and it selectively increases binding affinity to sites within the hGH-LCR. Co-immunoprecipitation studies reveal that this substitution enhances interactions of POU1F1 with three of its cofactors, PITX1, LHX3a and ELK1, and that residue 76 plays a critical role in these interactions. The insertion of the mutation at the mouse Pou1f1 locus results in a dramatic loss of protein expression despite normal mRNA concentrations. Mice heterozygous for the p.Pro76Leu mutation were phenotypically normal while homozygotes demonstrated a dwarf phenotype. Overall, this study unveils the involvement of POU1F1 in dominantly inherited isolated GH deficiency and demonstrates a significant impact of the Pro76Leu mutation on DNA-binding activities, alterations in transactivating functions and interactions with cofactors. Our data further highlight difficulties in modeling human genetic disorders in the mouse despite apparent conservation of gene expression pathways and physiologic functions.
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