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Semi-Lethal Primary Ciliary Dyskinesia in Rats Lacking the Nme7 Gene

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    0544155 - ÚMG 2022 RIV CH eng J - Journal Article
    Šedová, Lucie - Buková, Ivana - Bažantová, P. - Petrezselyova, Silvia - Procházka, Jan - Školníková, Elena - Zudová, Dagmar - Vcelak, J. - Makovický, P. - Bendlova, B. - Šeda, O. - Sedláček, Radislav
    Semi-Lethal Primary Ciliary Dyskinesia in Rats Lacking the Nme7 Gene.
    International Journal of Molecular Sciences. Roč. 22, č. 8 (2021), č. článku 3810. E-ISSN 1422-0067
    R&D Projects: GA ČR GA17-13491S; GA MŠMT(CZ) LM2018126; GA MŠMT(CZ) ED1.1.00/02.0109; GA MŠMT ED2.1.00/19.0395
    Institutional support: RVO:68378050
    Keywords : cilia * hydrocephalus * Nme7 * knock-out rat * infertility
    OECD category: Biochemistry and molecular biology
    Impact factor: 6.208, year: 2021
    Method of publishing: Open access
    https://www.mdpi.com/1422-0067/22/8/3810

    NME7 (non-metastatic cells 7, nucleoside diphosphate kinase 7) is a member of a gene family with a profound effect on health/disease status. NME7 is an established member of the ciliome and contributes to the regulation of the microtubule-organizing center. We aimed to create a rat model to further investigate the phenotypic consequences of Nme7 gene deletion. The CRISPR/Cas9 nuclease system was used for the generation of Sprague Dawley Nme7 knock-out rats targeting the exon 4 of the Nme7 gene. We found the homozygous Nme7 gene deletion to be semi-lethal, as the majority of SDNme7-/- pups died prior to weaning. The most prominent phenotypes in surviving SDNme7-/- animals were hydrocephalus, situs inversus totalis, postnatal growth retardation, and sterility of both sexes. Thinning of the neocortex was histologically evident at 13.5 day of gestation, dilation of all ventricles was detected at birth, and an external sign of hydrocephalus, i.e., doming of the skull, was usually apparent at 2 weeks of age. Heterozygous SDNme7+/- rats developed normally, we did not detect any symptoms of primary ciliary dyskinesia. The transcriptomic profile of liver and lungs corroborated the histological findings, revealing defects in cell function and viability. In summary, the knock-out of the rat Nme7 gene resulted in a range of conditions consistent with the presentation of primary ciliary dyskinesia, supporting the previously implicated role of the centrosomally located Nme7 gene in ciliogenesis and control of ciliary transport.
    Permanent Link: http://hdl.handle.net/11104/0321203

     
     
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