HCFC1 loss-of-function mutations disrupt neuronal and neural progenitor cells of the developing brain

Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11130%2F15%3A10295159" target="_blank" >RIV/00216208:11130/15:10295159 - isvavai.cz</a>
Alternative codes found
RIV/00843989:_____/15:E0104815 RIV/00064203:_____/15:10295159
Result on the web
<a href="http://dx.doi.org/10.1093/hmg/ddv083" target="_blank" >http://dx.doi.org/10.1093/hmg/ddv083</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1093/hmg/ddv083" target="_blank" >10.1093/hmg/ddv083</a>

Result language
angličtina
Original language name
HCFC1 loss-of-function mutations disrupt neuronal and neural progenitor cells of the developing brain
Original language description
Both gain- and loss-of-function mutations have recently implicated HCFC1 in neurodevelopmental disorders. Here, we extend our previous HCFC1 over-expression studies by employing short hairpin RNA to reduce the expression of Hcfc1 in embryonic neural cells. We show that in contrast to over-expression, loss of Hcfc1 favoured proliferation of neural progenitor cells at the expense of differentiation and promoted axonal growth of post-mitotic neurons. To further support the involvement of HCFC1 in neurological disorders, we report two novel HCFC1 missense variants found in individuals with intellectual disability (ID). One of these variants, together with three previously reported HCFC1 missense variants of unknown pathogenicity, were functionally assessedusing multiple cell-based assays. We show that three out of the four variants tested result in a partial loss of HCFC1 function. While over-expression of the wild-type HCFC1 caused reduction in HEK293T cell proliferation and axonal growt
Czech name
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Czech description
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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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Project
<a href="/en/project/NT14200" target="_blank" >NT14200: Identification of genetic defects in families of patients with autism</a><br>
Continuities
I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Publication year
2015
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

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