NDLI: Functional Analysis of HSF4 Mutations Found in Patients With Autosomal Recessive Congenital Cataracts

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Functional Analysis of HSF4 Mutations Found in Patients With Autosomal Recessive Congenital Cataracts

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Functional Analysis of HSF4 Mutations Found in Patients With Autosomal Recessive Congenital Cataracts

Content Provider	World Health Organization (WHO)-Global Index Medicus
Author	Merath, Kate Ronchetti, Adam Sidjanin, Duska J.
Description	Author Affiliation: Merath K ( Department of Cell Biology, Neurobiology, and Anatomy, Medical College of Wisconsin, Milwaukee, Wisconsin.)
Abstract	PURPOSE: The goal of this study was to functionally evaluate three previously uncharacterized heat shock factor protein 4 (HSF4) mutations (c.595_599delGGGCC, c.1213C>T, c.1327+4A>G) encoding mutant HSF4 proteins (G199EfsX15, R405X, and M419GfsX29) with missing C-terminal ends. These HSF4 mutations were previously identified in families with congenital autosomal recessive cataracts. METHODS: FLAG-tagged recombinant wild type (WT) and mutant HSF4 proteins were analyzed using the protein stability assay, cellular immunofluorescence, Western blotting, electrophoretic mobility shift assay (EMSA), and reporter activation. RESULTS: HSF4 mutant proteins did not differ in the protein turnover rate when compared with WT HSF4. Immunofluorescence revealed that WT and mutant HSF4 proteins were properly trafficked to the nucleus. EMSA analysis revealed that the G199EfsX15 and M419GfsX29 proteins exhibited decreased heat shock element (HSE)-mediated DNA binding, whereas the R405X mutant exhibited increased HSE-mediated DNA binding when compared with WT HSF4. All three HSF4 mutant proteins exhibited abolished HSE-mediated luciferase reporter activation. Detailed evaluation of the C-terminal region identified three novel domains: two activation domains and one repression domain. CONCLUSIONS: The three HSF4 autosomal recessive mutations evaluated here result in a loss of HSF4 function due to a loss of regulatory domains present at the C-terminal end. These findings collectively indicate that the transcriptional activation of HSF4 is mediated by interactions between activator and repressor domains within the C-terminal end.
ISSN	01460404
e-ISSN	15525783
DOI	10.1167/iovs.13-12283
Journal	Investigative Opthalmology & Visual Science
Issue Number	10
Volume Number	54
Language	English
Publisher	Association for Research in Vision and Ophthalmology
Publisher Date	2013-10-11
Publisher Place	United States
Access Restriction	Open
Subject Keyword	Cataract Congenital Dna-binding Proteins Genetics Mutation Transcription Factors Blotting, Western Metabolism Cells, Cultured Dna Mutational Analysis Electrophoretic Mobility Shift Assay Genes, Recessive Heat-shock Proteins Transcriptional Activation Comparative Study Research Support, N.i.h., Extramural Discipline Ophthalmology
Content Type	Text
Resource Type	Article
Subject	Ophthalmology Sensory Systems Cellular and Molecular Neuroscience

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