Abstract
The microtubule-severing protein complex katanin is composed two subunits, the ATPase subunit, KATNA1, and the non-catalytic regulatory subunit, KATNB1. Recently, the Katnb1 gene has been linked to infertility, regulation of centriole and cilia formation in fish and mammals, as well as neocortical brain development. KATNB1 protein is expressed in germ cells in humans and mouse, mitotic/meiotic spindles and cilia, although the full expression pattern of the Katnb1 gene has not been described. Results: Using a knockin-knockout mouse model of Katnb1 dysfunction we demonstrate that Katnb1 is ubiquitously expressed during embryonic development, although a stronger expression is seen in the crown cells of the gastrulation organizer, the murine node. Furthermore, null and hypomorphic Katnb1 gene mutations show a novel correlation between Katnb1 dysregulation and the development of impaired left-right signaling, including cardiac malformations. Conclusion: Katanin function is a critical regulator of heart development in mice. These findings are potentially relevant to human cardiac development.
Original language | English |
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Pages (from-to) | 1027-1035 |
Number of pages | 9 |
Journal | Developmental Dynamics |
Volume | 246 |
Issue number | 12 |
DOIs | |
Publication status | Published - Dec 2017 |
Keywords
- cilia
- Katnb1
- heart
- development
- katanin
- microtubules
Equipment
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Histology Platform
Camilla Cohen (Manager)
Office of the Vice-Provost (Research and Research Infrastructure)Facility/equipment: Facility
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Monash Micro Imaging
Ian Harper (Manager), Stephen Firth (Manager), Alex Fulcher (Operator), Oleks Chernyavskiy (Operator), Margaret Rzeszutek (Other), David Potter (Manager), Volker Hilsenstein (Operator), Juan Nunez-Iglesias (Other), Stephen Cody (Manager), Irena Carmichael (Operator), Betty Kouskousis (Other), Chad Johnson (Operator), Sarah Creed (Manager) & Giulia Ballerin (Operator)
Office of the Vice-Provost (Research and Research Infrastructure)Facility/equipment: Facility