• Je něco špatně v tomto záznamu ?

Myopia disease mouse models: a missense point mutation (S673G) and a protein-truncating mutation of the Zfp644 mimic human disease phenotype

KI. Szczerkowska, S. Petrezselyova, J. Lindovsky, M. Palkova, J. Dvorak, P. Makovicky, M. Fang, C. Jiang, L. Chen, M. Shi, X. Liu, J. Zhang, A. Kubik-Zahorodna, B. Schuster, IM. Beck, V. Novosadova, J. Prochazka, R. Sedlacek,

. 2019 ; 9 (-) : 21. [pub] 20190221

Jazyk angličtina Země Anglie, Velká Británie

Typ dokumentu časopisecké články

Perzistentní odkaz   https://www.medvik.cz/link/bmc19013289

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 (Zfp644S673G ) or with a truncated form of Zfp644 (Zfp644Δ8 ). 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, Zfp644S673G and Zfp644Δ8 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.

Citace poskytuje Crossref.org

000      
00000naa a2200000 a 4500
001      
bmc19013289
003      
CZ-PrNML
005      
20210224130949.0
007      
ta
008      
190405s2019 enk f 000 0|eng||
009      
AR
024    7_
$a 10.1186/s13578-019-0280-4 $2 doi
035    __
$a (PubMed)30834109
040    __
$a ABA008 $b cze $d ABA008 $e AACR2
041    0_
$a eng
044    __
$a enk
100    1_
$a Szczerkowska, Katarzyna I $u 1Laboratory of Transgenic Models of Diseases, Institute of Molecular Genetics CAS, Prumyslova 595, Vestec, 252 50 Prague, Czech Republic.
245    10
$a Myopia disease mouse models: a missense point mutation (S673G) and a protein-truncating mutation of the Zfp644 mimic human disease phenotype / $c KI. Szczerkowska, S. Petrezselyova, J. Lindovsky, M. Palkova, J. Dvorak, P. Makovicky, M. Fang, C. Jiang, L. Chen, M. Shi, X. Liu, J. Zhang, A. Kubik-Zahorodna, B. Schuster, IM. Beck, V. Novosadova, J. Prochazka, R. Sedlacek,
520    9_
$a 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 (Zfp644S673G ) or with a truncated form of Zfp644 (Zfp644Δ8 ). 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, Zfp644S673G and Zfp644Δ8 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.
655    _2
$a časopisecké články $7 D016428
700    1_
$a Petrezselyova, Silvia $u 1Laboratory of Transgenic Models of Diseases, Institute of Molecular Genetics CAS, Prumyslova 595, Vestec, 252 50 Prague, Czech Republic. 2Czech Centre for Phenogenomics, Institute of Molecular Genetics CAS, Prague, Czech Republic.
700    1_
$a Lindovsky, Jiri $u 2Czech Centre for Phenogenomics, Institute of Molecular Genetics CAS, Prague, Czech Republic.
700    1_
$a Palkova, Marcela $u 2Czech Centre for Phenogenomics, Institute of Molecular Genetics CAS, Prague, Czech Republic.
700    1_
$a Dvorak, Jan $u 1Laboratory of Transgenic Models of Diseases, Institute of Molecular Genetics CAS, Prumyslova 595, Vestec, 252 50 Prague, Czech Republic.
700    1_
$a Makovicky, Peter $u 2Czech Centre for Phenogenomics, Institute of Molecular Genetics CAS, Prague, Czech Republic.
700    1_
$a Fang, Mingyan $u 3Division of Clinical Immunology, Department of Laboratory Medicine, Karolinska Institutet at Karolinska University Hospital Huddinge, Stockholm, Sweden. 4BGI-Shenzhen, Shenzhen, 518083 China. 5China National GeneBank, BGI-Shenzhen, Shenzhen, 518120 China.
700    1_
$a Jiang, Chongyi $u 4BGI-Shenzhen, Shenzhen, 518083 China. 5China National GeneBank, BGI-Shenzhen, Shenzhen, 518120 China.
700    1_
$a Chen, Lingyan $u 4BGI-Shenzhen, Shenzhen, 518083 China. 5China National GeneBank, BGI-Shenzhen, Shenzhen, 518120 China.
700    1_
$a Shi, Mingming $u 4BGI-Shenzhen, Shenzhen, 518083 China. 5China National GeneBank, BGI-Shenzhen, Shenzhen, 518120 China.
700    1_
$a Liu, Xiao $u 4BGI-Shenzhen, Shenzhen, 518083 China. 5China National GeneBank, BGI-Shenzhen, Shenzhen, 518120 China.
700    1_
$a Zhang, Jianguo $u 4BGI-Shenzhen, Shenzhen, 518083 China. 5China National GeneBank, BGI-Shenzhen, Shenzhen, 518120 China.
700    1_
$a Kubik-Zahorodna, Agnieszka $u 2Czech Centre for Phenogenomics, Institute of Molecular Genetics CAS, Prague, Czech Republic.
700    1_
$a Schuster, Bjoern $u 2Czech Centre for Phenogenomics, Institute of Molecular Genetics CAS, Prague, Czech Republic.
700    1_
$a Beck, Inken M $u 2Czech Centre for Phenogenomics, Institute of Molecular Genetics CAS, Prague, Czech Republic. 6Animal Research Center, Ulm University, Ulm, Germany.
700    1_
$a Novosadova, Vendula $u 2Czech Centre for Phenogenomics, Institute of Molecular Genetics CAS, Prague, Czech Republic.
700    1_
$a Prochazka, Jan $u 1Laboratory of Transgenic Models of Diseases, Institute of Molecular Genetics CAS, Prumyslova 595, Vestec, 252 50 Prague, Czech Republic. 2Czech Centre for Phenogenomics, Institute of Molecular Genetics CAS, Prague, Czech Republic.
700    1_
$a Sedlacek, Radislav $u 1Laboratory of Transgenic Models of Diseases, Institute of Molecular Genetics CAS, Prumyslova 595, Vestec, 252 50 Prague, Czech Republic. 2Czech Centre for Phenogenomics, Institute of Molecular Genetics CAS, Prague, Czech Republic.
773    0_
$w MED00198696 $t Cell & bioscience $x 2045-3701 $g Roč. 9, č. - (2019), s. 21
856    41
$u https://pubmed.ncbi.nlm.nih.gov/30834109 $y Pubmed
910    __
$a ABA008 $b sig $c sign $y a $z 0
990    __
$a 20190405 $b ABA008
991    __
$a 20210224130947 $b ABA008
999    __
$a ind $b bmc $g 1392599 $s 1051594
BAS    __
$a 3
BAS    __
$a PreBMC
BMC    __
$a 2019 $b 9 $c - $d 21 $e 20190221 $i 2045-3701 $m Cell & bioscience $n Cell Biosci $x MED00198696
LZP    __
$a Pubmed-20190405

Najít záznam

Citační ukazatele

Možnosti archivace