Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Review
. 2019 Sep;111(9):217-231.
doi: 10.1111/boc.201900012. Epub 2019 Jun 17.

Cilia in hereditary cerebral anomalies

Sophie Thomas  1 , Lucile Boutaud  1 , Madeline Louise Reilly  2   3 , Alexandre Benmerah  2
Affiliations
Free article
Review

Cilia in hereditary cerebral anomalies

Sophie Thomas et al. Biol Cell. 2019 Sep.
Free article

Abstract

Ciliopathies are complex genetic multi-system disorders causally related to abnormal assembly or function of motile or non-motile cilia. While most human cells possess a non-motile sensory/primary cilium (PC) during development and/or in adult tissues, motile cilia are restricted to specialised cells. As a result, PC-associated ciliopathies are characterised by high phenotypic variability with extensive clinical and genetic overlaps. In the present review, we have focused on cerebral developmental anomalies, which are commonly found in PC-associated ciliopathies and which have mostly been linked to Hedgehog signalling defects. In addition, we have reviewed emerging evidence that PC dysfunctions could be directly or indirectly involved in the mechanisms underlying malformations of cerebral cortical development including primary microcephaly.

Keywords: Brain/nervous system; Cell cycle; Centriole; Development; Microtubule.

PubMed Disclaimer

References

    1. Abuzzahab, M.J., Schneider, A., Goddard, A., Grigorescu, F., Lautier, C., Keller, E., Kiess, W., Klammt, J., Kratzsch, J., Osgood, D., Pfäffle, R., Raile, K., Seidel, B., Smith, R.J., Chernausek, S.D. and Intrauterine Growth Retardation (IUGR) Study Group (2003) IGF-I receptor mutations resulting in intrauterine and postnatal growth retardation. N. Engl. J. Med. 349, 2211-2222
    1. Aguilar, A., Meunier, A., Strehl, L., Martinovic, J., Bonniere, M., Attie-Bitach, T., Encha-Razavi, F. and Spassky, N. (2012) Analysis of human samples reveals impaired SHH-dependent cerebellar development in Joubert syndrome/Meckel syndrome. Proc. Natl. Acad. Sci. U. S. A. 109, 16951-16956
    1. Al-Dosari, M.S., Shaheen, R., Colak, D. and Alkuraya, F.S. (2010) Novel CENPJ mutation causes Seckel syndrome. J. Med. Genet. 47, 411-414
    1. Alkuraya, F.S., Cai, X., Emery, C., Mochida, G.H., Al-Dosari, M.S., Felie, J.M., Hill, R.S., Barry, B.J., Partlow, J.N., Gascon, G.G., Kentab, A., Jan, M., Shaheen, R., Feng, Y. and Walsh, C.A. (2011) Human mutations in NDE1 cause extreme microcephaly with lissencephaly [corrected]. Am. J. Hum. Genet. 88, 536-547
    1. Anderson, C.T. and Stearns, T. (2009) Centriole age underlies asynchronous primary cilium growth in mammalian cells. Curr. Biol. 19, 1498-1502

Substances

Supplementary concepts