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

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00023761%3A_____%2F21%3AN0000001" target="_blank" >RIV/00023761:_____/21:N0000001 - isvavai.cz</a>

Alternative codes found

RIV/68378050:_____/21:00544155 RIV/00216208:11110/21:10428079 RIV/00064165:_____/21:10428079

Result on the web

<a href="https://www.mdpi.com/1422-0067/22/8/3810/pdf" target="_blank" >https://www.mdpi.com/1422-0067/22/8/3810/pdf</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.3390/ijms22083810" target="_blank" >10.3390/ijms22083810</a>

Result language

angličtina

Original language name

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

Original language description

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.

Czech name

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Czech description

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Type

J_imp - Article in a specialist periodical, which is included in the Web of Science database

CEP classification

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OECD FORD branch

10608 - Biochemistry and molecular biology

Project

Result was created during the realization of more than one project. More information in the Projects tab.

Continuities

P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)

Publication year

2021

Confidentiality

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Name of the periodical

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

ISSN

1422-0067

e-ISSN

—

Volume of the periodical

22

Issue of the periodical within the volume

8

Country of publishing house

CH - SWITZERLAND

Number of pages

14

Pages from-to

nestrankovano

UT code for WoS article

000644365000001

EID of the result in the Scopus database

2-s2.0-85103629181