Dr Pleasantine Mill
Group Leader
- MRC Human Genetics Unit
- Institute of Genetics and Cancer
Contact details
- Email: pleasantine.mill@ed.ac.uk
Background
Dr Mill received her BSc degree from McGill University and then went on to do a PhD with Prof Chi-chung Hui at the University of Toronto. Her work focused on dissecting the roles of the Gli transcription factors in Hedgehog signaling in skin development and tumorigenesis using knock-out and transgenic mouse models. Upon completion of her PhD, Pleasantine received a Canadian NSERC Post-doctoral Fellowship to continue her work in Developmental Genetics with Prof Ian Jackson at the MRC Human Genetics Unit in Edinburgh driving a mouse mutagenesis project to identify genes controlling neural crest development. As a Caledonian Research Fellow, Pleasantine focused on characterizing several mutant mouse lines that exhibited hallmarks of deregulated signaling through defects in cilia structure and/or function. This work led her to develop a cilia-centric research programme using siRNA cell-based screens and targeted mouse mutants to discover and understand genes critical to ciliogenesis.
Qualifications
-
- 2004, Doctor of Philosophy, Medical and Molecular Genetics, University of Toronto, Canada
- 1999, Bachelor of Science, Microbiology and Immunology, McGill University, Canada
-
PLAA Mutations Cause a Lethal Infantile Epileptic Encephalopathy by Disrupting Ubiquitin-Mediated Endolysosomal Degradation of Synaptic Proteins
In:
American Journal of Human Genetics, vol. 100, pp. 706-724
DOI: https://doi.org/10.1016/j.ajhg.2017.03.008
Research output: Contribution to Journal › Article (Published) -
Gelsolin dysfunction causes photoreceptor loss in induced pluripotent cell and animal retinitis pigmentosa models
(10 pages)
In:
Nature Communications, vol. 8
DOI: https://doi.org/10.1038/s41467-017-00111-8
Research output: Contribution to Journal › Article (E-pub ahead of print) -
Ciliary dynein motor preassembly is regulated by Wdr92 in association with HSP90 co-chaperone, R2TP
In:
Journal of Cell Biology
DOI: https://doi.org/10.1083/jcb.201709026
Research output: Contribution to Journal › Article (Published) -
ZMYND10 functions in a chaperone relay during axonemal dynein assembly
(27 pages)
In:
eLIFE, vol. 7
DOI: https://doi.org/10.7554/eLife.34389
Research output: Contribution to Journal › Article (Published) -
A Cell/Cilia Cycle Biosensor for Single-Cell Kinetics Reveals Persistence of Cilia after G1/S Transition Is a General Property in Cells and Mice
In:
Developmental Cell, vol. 47, pp. 509-523.e5
DOI: https://doi.org/10.1016/j.devcel.2018.10.027
Research output: Contribution to Journal › Article (Published)