Matches in SemOpenAlex for { <https://semopenalex.org/work/W2019702993> ?p ?o ?g. }
- W2019702993 endingPage "4987" @default.
- W2019702993 startingPage "4981" @default.
- W2019702993 abstract "Abstract Context: The pituitary-specific transcription factor 1 plays a key role in the development and differentiation of three pituitary cell types: somatotrophs, lactotrophs, and thyrotrophs. Several mutations of the human gene (called POU1F1) have been shown to be responsible for a phenotype of combined pituitary hormone deficiency involving GH, prolactin (PRL), and TSH. Objective: We have identified a novel homozygous C to G mutation in exon 4 of the POU1F1 gene (S179R) in a patient with this rare phenotype. We analyzed the functional consequences of this S179R mutation associated with a single-amino acid change in the POU-specific domain. Methods: Consequences of this mutation on transcriptional activities by transfection studies in αT3 cells, DNA binding ability by EMSA, structural properties, and nuclear accumulation of POU1F1 were investigated. Results: The transactivation capacity of this mutant was markedly decreased on the GH1, PRL, TSHβ, and POU1F1 genes. Interestingly, this mutation abolished the functional interaction of POU1F1 on the PRL promoter with the coactivator cAMP response element-binding protein-binding protein but not with the transcription factor LIM homeodomain transcription factor 3. The S179R mutant displayed normal nuclear accumulation but a markedly decreased binding to a DNA response element in keeping with crystallographic data, suggesting that the S179R mutation might interfere with DNA binding. Conclusions: Together with previous data, our study indicates that both DNA binding and interaction with cofactors like cAMP response element-binding protein-binding protein are critical for POU1F1 function and that functional and structural properties of abnormal POU1F1 proteins are variously influenced by the type of mutations." @default.
- W2019702993 created "2016-06-24" @default.
- W2019702993 creator A5008033943 @default.
- W2019702993 creator A5015755014 @default.
- W2019702993 creator A5024442473 @default.
- W2019702993 creator A5024813019 @default.
- W2019702993 creator A5027180477 @default.
- W2019702993 creator A5028795531 @default.
- W2019702993 creator A5038139940 @default.
- W2019702993 creator A5071523355 @default.
- W2019702993 creator A5073956602 @default.
- W2019702993 creator A5074308093 @default.
- W2019702993 creator A5075765531 @default.
- W2019702993 creator A5078779925 @default.
- W2019702993 creator A5078813512 @default.
- W2019702993 date "2006-12-01" @default.
- W2019702993 modified "2023-10-10" @default.
- W2019702993 title "Identification and Functional Analysis of the Novel S179R POU1F1 Mutation Associated with Combined Pituitary Hormone Deficiency" @default.
- W2019702993 cites W1547617108 @default.
- W2019702993 cites W1947762817 @default.
- W2019702993 cites W1970092656 @default.
- W2019702993 cites W1970132032 @default.
- W2019702993 cites W1973561271 @default.
- W2019702993 cites W1981864913 @default.
- W2019702993 cites W1982810916 @default.
- W2019702993 cites W1989982146 @default.
- W2019702993 cites W1992626409 @default.
- W2019702993 cites W1993983978 @default.
- W2019702993 cites W2009357627 @default.
- W2019702993 cites W2013724819 @default.
- W2019702993 cites W2029686932 @default.
- W2019702993 cites W2057735345 @default.
- W2019702993 cites W2064557280 @default.
- W2019702993 cites W2065283382 @default.
- W2019702993 cites W2070808479 @default.
- W2019702993 cites W2075827799 @default.
- W2019702993 cites W2080167845 @default.
- W2019702993 cites W2086276236 @default.
- W2019702993 cites W2093990034 @default.
- W2019702993 cites W2115694090 @default.
- W2019702993 cites W2156814975 @default.
- W2019702993 cites W2161626193 @default.
- W2019702993 cites W2172003402 @default.
- W2019702993 doi "https://doi.org/10.1210/jc.2005-2289" @default.
- W2019702993 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/16968807" @default.
- W2019702993 hasPublicationYear "2006" @default.
- W2019702993 type Work @default.
- W2019702993 sameAs 2019702993 @default.
- W2019702993 citedByCount "21" @default.
- W2019702993 countsByYear W20197029932012 @default.
- W2019702993 countsByYear W20197029932014 @default.
- W2019702993 countsByYear W20197029932016 @default.
- W2019702993 countsByYear W20197029932018 @default.
- W2019702993 countsByYear W20197029932019 @default.
- W2019702993 countsByYear W20197029932021 @default.
- W2019702993 countsByYear W20197029932022 @default.
- W2019702993 crossrefType "journal-article" @default.
- W2019702993 hasAuthorship W2019702993A5008033943 @default.
- W2019702993 hasAuthorship W2019702993A5015755014 @default.
- W2019702993 hasAuthorship W2019702993A5024442473 @default.
- W2019702993 hasAuthorship W2019702993A5024813019 @default.
- W2019702993 hasAuthorship W2019702993A5027180477 @default.
- W2019702993 hasAuthorship W2019702993A5028795531 @default.
- W2019702993 hasAuthorship W2019702993A5038139940 @default.
- W2019702993 hasAuthorship W2019702993A5071523355 @default.
- W2019702993 hasAuthorship W2019702993A5073956602 @default.
- W2019702993 hasAuthorship W2019702993A5074308093 @default.
- W2019702993 hasAuthorship W2019702993A5075765531 @default.
- W2019702993 hasAuthorship W2019702993A5078779925 @default.
- W2019702993 hasAuthorship W2019702993A5078813512 @default.
- W2019702993 hasBestOaLocation W20197029931 @default.
- W2019702993 hasConcept C101762097 @default.
- W2019702993 hasConcept C104317684 @default.
- W2019702993 hasConcept C126322002 @default.
- W2019702993 hasConcept C1292079 @default.
- W2019702993 hasConcept C132376346 @default.
- W2019702993 hasConcept C134018914 @default.
- W2019702993 hasConcept C143065580 @default.
- W2019702993 hasConcept C150194340 @default.
- W2019702993 hasConcept C153911025 @default.
- W2019702993 hasConcept C2779029589 @default.
- W2019702993 hasConcept C2779064019 @default.
- W2019702993 hasConcept C501734568 @default.
- W2019702993 hasConcept C54355233 @default.
- W2019702993 hasConcept C54799321 @default.
- W2019702993 hasConcept C71315377 @default.
- W2019702993 hasConcept C71924100 @default.
- W2019702993 hasConcept C77445288 @default.
- W2019702993 hasConcept C86339819 @default.
- W2019702993 hasConcept C86803240 @default.
- W2019702993 hasConceptScore W2019702993C101762097 @default.
- W2019702993 hasConceptScore W2019702993C104317684 @default.
- W2019702993 hasConceptScore W2019702993C126322002 @default.
- W2019702993 hasConceptScore W2019702993C1292079 @default.
- W2019702993 hasConceptScore W2019702993C132376346 @default.
- W2019702993 hasConceptScore W2019702993C134018914 @default.
- W2019702993 hasConceptScore W2019702993C143065580 @default.
- W2019702993 hasConceptScore W2019702993C150194340 @default.