A Missense
Base Sequence
Cell Nucleus
/ metabolism
Genes, Dominant
HeLa Cells
Hearing Loss, Sensorineural
/ genetics
Homeodomain Proteins
/ chemistry
Humans
Models, Molecular
Mutant Proteins
/ chemistry
Mutation, Missense
/ genetics
Protein Transport
Transcription Factor Brn-3C
/ chemistry
Transcription, Genetic
Journal
BioMed research international
ISSN: 2314-6141
Titre abrégé: Biomed Res Int
Pays: United States
ID NLM: 101600173
Informations de publication
Date de publication:
2021
2021
Historique:
received:
20
02
2021
accepted:
09
06
2021
entrez:
12
7
2021
pubmed:
13
7
2021
medline:
23
9
2021
Statut:
epublish
Résumé
The pathogenic variant, POU class 4 transcription factor 3 ( We explored the structural and functional alterations that the c.602T>C (p.Leu201Pro) variant enforces on the POU4F3 protein. We utilized wild-type (WT) and mutant (MUT) The WT POU4F3 is ubiquitously present in the nucleus, whereas the MUT form of POU4F3 exhibits a more restricted nuclear presence. This finding is different from other publications, which report a cytoplasmic localization of the MUT POU4F3. We also demonstrated that, as opposed to WT POU4F3, the MUT POU4F3 had 40% reduced luciferase activity. The reduced nuclear presence, combined with reduced transcriptional activity, suggests that the
Sections du résumé
BACKGROUND
BACKGROUND
The pathogenic variant, POU class 4 transcription factor 3 (
OBJECTIVES
OBJECTIVE
We explored the structural and functional alterations that the c.602T>C (p.Leu201Pro) variant enforces on the POU4F3 protein.
METHODS
METHODS
We utilized wild-type (WT) and mutant (MUT)
RESULTS
RESULTS
The WT POU4F3 is ubiquitously present in the nucleus, whereas the MUT form of POU4F3 exhibits a more restricted nuclear presence. This finding is different from other publications, which report a cytoplasmic localization of the MUT POU4F3. We also demonstrated that, as opposed to WT POU4F3, the MUT POU4F3 had 40% reduced luciferase activity.
CONCLUSIONS
CONCLUSIONS
The reduced nuclear presence, combined with reduced transcriptional activity, suggests that the
Identifiants
pubmed: 34250087
doi: 10.1155/2021/5574136
pmc: PMC8238589
doi:
Substances chimiques
Homeodomain Proteins
0
Mutant Proteins
0
POU4F3 protein, human
0
Transcription Factor Brn-3C
0
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
5574136Informations de copyright
Copyright © 2021 Dan Bai et al.
Déclaration de conflit d'intérêts
The authors declare that they have no conflicts of interest.
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