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Myopia disease mouse models: a missense point mutation (S673G) and a protein-truncating mutation of the Zfp644 mimic human disease phenotype
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SYSNO ASEP 0521524 Document Type J - Journal Article R&D Document Type Journal Article Subsidiary J Článek ve WOS Title Myopia disease mouse models: a missense point mutation (S673G) and a protein-truncating mutation of the Zfp644 mimic human disease phenotype Author(s) Szczerkowska, Katarzyna (UMG-J)
Petrezselyova, Silvia (UMG-J)
Lindovský, Jiří (UMG-J) ORCID
Pálková, Marcela (UMG-J)
Dvořák, Jan (UMG-J) RID
Makovický, Peter (UMG-J)
Fang, M. (SE)
Jiang, C. (CN)
Chen, L. (CN)
Shi, M. (CN)
Liu, W. (CN)
Zhang, J. (CN)
Kubik-Zahorodna, Agnieszka (UMG-J)
Schuster, Bjorn (UMG-J)
Beck, Inken (UMG-J) RID
Novosadová, Vendula (UMG-J)
Procházka, Jan (UMG-J) ORCID
Sedláček, Radislav (UMG-J) RIDNumber of authors 18 Article number 21 Source Title Cell and Bioscience. - : BioMed Central
Roč. 9, February (2019)Number of pages 10 s. Publication form Online - E Language eng - English Country GB - United Kingdom Keywords Myopia ; Mouse model ; Genetics ; Zinc finger 644 ; Vision ; Eye Subject RIV EB - Genetics ; Molecular Biology OECD category Genetics and heredity (medical genetics to be 3) R&D Projects LH14276 GA MŠMT - Ministry of Education, Youth and Sports (MEYS) LM2015040 GA MŠMT - Ministry of Education, Youth and Sports (MEYS) ED1.1.00/02.0109 GA MŠMT - Ministry of Education, Youth and Sports (MEYS) LQ1604 GA MŠMT - Ministry of Education, Youth and Sports (MEYS) GA19-21696S GA ČR - Czech Science Foundation (CSF) ED2.1.00/19.0395 GA MŠMT - Ministry of Education, Youth and Sports (MEYS) Method of publishing Open access Institutional support UMG-J - RVO:68378050 UT WOS 000459413400001 DOI 10.1186/s13578-019-0280-4 Annotation Zinc finger 644 (Zfp644 in mouse, ZNF644 in human) gene is a transcription factor whose mutation S672G is considered a potential genetic factor of inherited high myopia. ZNF644 interacts with G9a/GLP complex, which functions as a H3K9 methyltransferase to silence transcription. In this study, we generated mouse models to unravel the mechanisms leading to symptoms associated with high myopia. Employing TALEN technology, two mice mutants were generated, either with the disease-carrying mutation (Zfp644(S673G)) or with a truncated form of Zfp644 (Zfp644(8)). Eye morphology and visual functions were analysed in both mutants, revealing a significant difference in a vitreous chamber depth and lens diameter, however the physiological function of retina was preserved as found under the high-myopia conditions. Our findings prove that ZNF644/Zfp644 is involved in the development of high-myopia, indicating that mutations such as, Zfp644(S673G) and Zfp644(8) are causative for changes connected with the disease. The developed models represent a valuable tool to investigate the molecular basis of myopia pathogenesis and its potential treatment. Workplace Institute of Molecular Genetics Contact Nikol Škňouřilová, nikol.sknourilova@img.cas.cz, Tel.: 241 063 217 Year of Publishing 2020 Electronic address https://cellandbioscience.biomedcentral.com/articles/10.1186/s13578-019-0280-4
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