The roles of primary cilia in hearing
Cilia are antenna-like membrane-associated structures which play essential roles during development, and during the normal function of many cells throughout the body. Dysfunction of these organelles can lead to serious illnesses, involving deafness and blindness, as well as life-threatening complications such as kidney and liver disease, diabetes, respiratory problems, and obesity. These so-called “ciliopathies” are usually genetically inherited, and at present there are few, if any cures.
Following collaborations with Phil Beales (Institute of Child Health, UCL) on Bardet-Biedl Syndrome, and with Jan Marshall (Jackson Labs, USA) on Alström Syndrome, we are continuing to work in the field of human ciliary diseases. In collaboration with Colin Johnson (University of Leeds) we more recently characterized the role of the Meckel-Gruber Syndrome protein TMEM67 in the development of the cochlea.
In related public engagement projects I have worked with patient support groups such as Alström Syndrome UK (www.alstrom.org.uk), the Laurence-Moon Bardet-Biedl Society (www.lmbbs.org.uk/), and the Ciliopathy Alliance (www.ciliopathyalliance.org).
- See our full publication list
- Abdelhamed ZA , Natarajan S, Wheway G, Inglehearn CF, Toomes C, Johnson CA, Jagger DJ. The Meckel-Gruber syndrome protein TMEM67 controls basal body positioning and epithelial branching morphogenesis via the non-canonical Wnt pathway. Disease Models & Mechanisms 8, 527-541, 2015.
- Collin GB. Marshall JD. King BL. Milan G. Maffei P. Jagger DJ. Naggert JK. The Alström Syndrome protein, ALMS1, interacts with α-actinin and components of the endosome recycling pathway. PLoS ONE e37925 (doi:10.1371/journal.pone.0037925), 2012.
- Jagger DJ. Forge A. Assessing PCP in the cochlea of mammalian ciliopathy models. Methods in Molecular Biology, 839, 239-248 2012.
- Jagger D, Collin G, Kelly J, Towers E, Nevill G, Longo-Guess C, Benson J, Halsey K, Dolan D, Marshall J, Naggert J, Forge A. Alström Syndrome protein ALMS1 localizes to basal bodies of cochlear hair cells and regulates cilium-dependent planar cell polarity. Human Molecular Genetics 20, 466-481, 2011.