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The microphthalmia-associated transcription factor (Mitf) gene and its role in regulating eye function

The microphthalmia-associated transcription factor (Mitf) gene and its role in regulating eye function

Title: The microphthalmia-associated transcription factor (Mitf) gene and its role in regulating eye function
Author: García-Llorca, Andrea
Gudmundsdottir Aspelund, Snaefridur   orcid.org/0000-0002-8754-3686
Ogmundsdottir, Margret H   orcid.org/0000-0003-2836-9988
Steingrimsson, Eirikur   orcid.org/0000-0001-5826-7486
Eysteinsson, Thor   orcid.org/0000-0002-9748-5854
Date: 2019-10-28
Language: English
Scope: 15386
University/Institute: Háskóli Íslands
University of Iceland
School: Heilbrigðisvísindasvið (HÍ)
School of Health Sciences (UI)
Department: Læknadeild (HÍ)
Faculty of Medicine (UI)
Lífeðlisfræðistofnun (HÍ)
Institute of Physiology (UI)
Lífvísindasetur (HÍ)
Biomedical Center (UI)
Series: Scientific Reports;9(1)
ISSN: 2045-2322
DOI: 10.1038/s41598-019-51819-0
Subject: Molecular medicine; Sensory processing; Sameindafræði; Stökkbreytingar; Augu
URI: https://hdl.handle.net/20.500.11815/1524

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García-Llorca, A., Aspelund, S.G., Ogmundsdottir, M.H. et al. The microphthalmia-associated transcription factor (Mitf) gene and its role in regulating eye function. Sci Rep 9, 15386 (2019). https://doi.org/10.1038/s41598-019-51819-0


Mutations in the microphthalmia-associated transcription factor (Mitf) gene can cause retinal pigment epithelium (RPE) and retinal dysfunction and degeneration. We examined retinal and RPE structure and function in 3 month old mice homo- or heterozygous or compound heterozygous for different Mitf mutations (Mitfmi-vga9/+, Mitfmi-enu22(398)/Mitfmi-enu22(398), MitfMi-Wh/+ and MitfMi-Wh/Mitfmi) which all have normal eye size with apparently normal eye pigmentation. Here we show that their vision and retinal structures are differentially affected. Hypopigmentation was evident in all the mutants while bright-field fundus images showed yellow spots with non-pigmented areas in the Mitfmi-vga9/+ mice. MitfMi-Wh/+ and MitfMi-Wh/Mitfmi mice showed large non-pigmented areas. Fluorescent angiography (FA) of all mutants except Mitfmi-vga9/+ mice showed hyperfluorescent areas, whereas FA from both Mitf-Mi-Wh/+ and MitfMi-Wh/Mitfmi mice showed reduced capillary network as well as hyperfluorescent areas. Electroretinogram (ERG) recordings show that MitfMi-Wh/+ and MitfMi-Wh/Mitfmi mice are severely impaired functionally whereas the scotopic and photopic ERG responses of Mitfmi-vga9/+ and Mitfmi-enu22(398)/Mitfmi-enu22(398) mice were not significantly different from wild type mice. Histological sections demonstrated that the outer retinal layers were absent from the MitfMi-Wh/+ and MitfMi-Wh/Mitfmi blind mutants. Our results show that Mitf mutations affect eye function, even in the heterozygous condition and that the alleles studied can be arranged in an allelic series in this respect.


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