Katanin p80 regulates human cortical development by limiting centriole and cilia number

Katanin p80 regulates human cortical development by limiting centriole and cilia number
Title:
Katanin p80 regulates human cortical development by limiting centriole and cilia number
Other Titles:
Neuron
Keywords:
Publication Date:
17 December 2014
Citation:
Wen F. Hu, Oz Pomp, Tawfeg Ben-Omran, Andrew Kodani, Katrin Henke, Ganeshwaran H. Mochida, Timothy W. Yu, Mollie B. Woodworth, Carine Bonnard, Grace Selva Raj, Thong Teck Tan, Hanan Hamamy, Amira Masri, Mohammad Shboul, Muna Al Saffar, Jennifer N. Partlow, Mohammed Al-Dosari, Anas Alazami, Mohammed Alowain, Fowzan S. Alkuraya, Jeremy F. Reiter, Matthew P. Harris, Bruno Reversade, Christopher A. Walsh, Katanin p80 Regulates Human Cortical Development by Limiting Centriole and Cilia Number, Neuron, Volume 84, Issue 6, 17 December 2014, Pages 1240-1257, ISSN 0896-6273, http://dx.doi.org/10.1016/j.neuron.2014.12.017.
Abstract:
Katanin is a microtubule-severing complex whose catalytic activities are well characterized, but whose in vivo functions are incompletely understood. Human mutations in KATNB1, which encodes the noncatalytic regulatory p80 subunit of katanin, cause severe microlissencephaly. Loss of Katnb1 in mice confirms essential roles in neurogenesis and cell survival, while loss of zebrafish katnb1 reveals specific roles for katnin p80 in early and late developmental stages. Surprisingly, Katnb1 null mutant mouse embryos display hallmarks of aberrant Sonic hedgehog signaling, including holoprosencephaly. KATNB1-deficient human cells show defective proliferation and spindle structure, while Katnb1 null fibroblasts also demonstrate a remarkable excess of centrioles, with supernumerary cilia but deficient Hedgehog signaling. Our results reveal unexpected functions for KATNB1 in regulating overall centriole, mother centriole, and cilia number, and as an essential gene for normal Hedgehog signaling during neocortical development.
License type:
PublisherCopyrights
Funding Info:
Description:
Full paper can be downloaded from the Publisher's URL provided.
ISSN:
0896-6273
1097-4199
Files uploaded:
File Size Format Action
There are no attached files.