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

SYSNO ASEP	0544155
Document Type	J - Journal Article
R&D Document Type	Journal Article
Subsidiary J	Článek ve WOS
Title	Semi-Lethal Primary Ciliary Dyskinesia in Rats Lacking the Nme7 Gene
Author(s)	Šedová, Lucie (UMG-J) Buková, Ivana (UMG-J) Bažantová, P. (CZ) Petrezselyova, Silvia (UMG-J) Procházka, Jan (UMG-J)_ORCID Školníková, Elena (UMG-J) Zudová, Dagmar (UMG-J) Vcelak, J. (CZ) Makovický, P. (SK) Bendlova, B. (CZ) Šeda, O. (CZ) Sedláček, Radislav (UMG-J)_RID
Number of authors	12
Article number	3810
Source Title	International Journal of Molecular Sciences. - : MDPI Roč. 22, č. 8 (2021)
Number of pages	14 s.
Publication form	Online - E
Language	eng - English
Country	CH - Switzerland
Keywords	cilia ; hydrocephalus ; Nme7 ; knock-out rat ; infertility
Subject RIV	EB - Genetics ; Molecular Biology
OECD category	Biochemistry and molecular biology
R&D Projects	GA17-13491S GA ČR - Czech Science Foundation (CSF)
	LM2018126 GA MŠMT - Ministry of Education, Youth and Sports (MEYS)
	ED1.1.00/02.0109 GA MŠMT - Ministry of Education, Youth and Sports (MEYS)
	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	000644365000001
DOI	10.3390/ijms22083810
Annotation	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.
Workplace	Institute of Molecular Genetics
Contact	Nikol Škňouřilová, nikol.sknourilova@img.cas.cz, Tel.: 241 063 217
Year of Publishing	2022
Electronic address	https://www.mdpi.com/1422-0067/22/8/3810

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