DYNC2LI1 mutations broaden the clinical spectrum of dynein-2 defects
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11130%2F15%3A10295668" target="_blank" >RIV/00216208:11130/15:10295668 - isvavai.cz</a>
Alternative codes found
RIV/00064203:_____/15:10295668
Result on the web
<a href="http://dx.doi.org/10.1038/srep11649" target="_blank" >http://dx.doi.org/10.1038/srep11649</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1038/srep11649" target="_blank" >10.1038/srep11649</a>
Alternative languages
Result language
angličtina
Original language name
DYNC2LI1 mutations broaden the clinical spectrum of dynein-2 defects
Original language description
Skeletal ciliopathies are a heterogeneous group of autosomal recessive osteochondrodysplasias caused by defects in formation, maintenance and function of the primary cilium. Mutations in the underlying genes affect the molecular motors, intraflagellar transport complexes (IFT), or the basal body. The more severe phenotypes are caused by defects of genes of the dynein-2 complex, where mutations in DYNC2H1, WDR34 and WDR60 have been identified. In a patient with a Jeune-like phenotype we performed exome sequencing and identified compound heterozygous missense and nonsense mutations in DYNC2LI1 segregating with the phenotype. DYNC2LI1 is ubiquitously expressed and interacts with DYNC2H1 to form the dynein-2 complex important for retrograde IFT. Using DYNC2LI1 siRNA knockdown in fibroblasts we identified a significantly reduced cilia length proposed to affect cilia function. In addition, depletion of DYNC2LI1 induced altered cilia morphology with broadened ciliary tips and accumulation of
Czech name
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Czech description
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Classification
Type
J<sub>x</sub> - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)
CEP classification
EB - Genetics and molecular biology
OECD FORD branch
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Result continuities
Project
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Continuities
I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace
Others
Publication year
2015
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
Scientific Reports
ISSN
2045-2322
e-ISSN
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Volume of the periodical
5
Issue of the periodical within the volume
neuveden
Country of publishing house
GB - UNITED KINGDOM
Number of pages
12
Pages from-to
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UT code for WoS article
000357166500002
EID of the result in the Scopus database
2-s2.0-84934283321