Pleasantine Mill

Pleasantine Mill is a cell biologist and group leader at the MRC Human Genetics Unit at the University of Edinburgh.[1][3] She won the 2018 British Society for Cell Biology Women in Cell Biology Early Career Medal.[4]

Plesantine Mill
2016 Portrait of Pleasantine Mill, developmental and cell biologist
Alma materMcGill University (BSc)
University of Toronto (PhD)
Scientific career
FieldsCilia
Genetics
Disease mechanisms
Cell biology
Imaging[1]
InstitutionsUniversity of Edinburgh
The Hospital for Sick Children
ThesisThe role of Shh-dependent Gli activator and repressor functions in epidermal development and disease (2004)
Doctoral advisorChi-chung Hui[2]
Websitewww.ed.ac.uk/profile/pleasantine-mill

Early life and education

Mill completed her bachelor's degree at McGill University in 1999.[5] She joined University of Toronto for her PhD, working on transcription factors in the Hedgehog signaling pathway in skin development and tumorigenesis supervised by Chi-chung Hui.[2][5][6][7] Her work contributed to the book Hedgehog-Gli Signaling in Human Disease.[8] She worked at the Hospital for Sick Children and earned her PhD in 2004.[4]

Career and research

Mill was awarded a Canadian Natural Sciences and Engineering Research Council (NSERC) postdoctoral research fellowship to join the Medical Research Council (MRC) Human Genetics Unit (HGU). She worked on mouse mutagenesis.[5] During her postdoctoral work she identified several novel mutant lines that disrupted developmental signalling.[4] Mill was appointed a Caledonian Research Foundation Fellow at the University of Edinburgh.[5] Since 2014 Mill has established a cilia-focussed programme that uses Small interfering RNA screening.[5] She works with clinical geneticists to understand the molecular phenotypes that underlie ciliopathies in humans.[4] She was awarded a £1.5 million grant from UK Research and Innovation (UKRI) to explore mammalian cilia in development and disease.[9]

Mill examined the influence of the Retinitis pigmentosa GTPase regulator (RPGR) gene on the cells in the eye and how they can cause X-linked retinitis pigmentosa, a condition which causes blindness in middle age.[10] Photoreceptors decay in retinitis pigmentosa patients due to a flaw in the RPGR gene.[10] In 2018 Mill identified a new therapeutic technique for primary ciliary dyskinesia (PCD).[11] She proposed that drugs which make dynein motor proteins functional could improve the quality of life of patients suffering from primary ciliary dyskinesia.[11][12] In October 2018 Mill chaired the first PCD awareness day.[13] She proposed that the Government of the United Kingdom introduced early genetic diagnosis of PCD for babies with no identified causes of neonatal respiratory distress.[14] She hopes that genome editing will be able to treat PCD.[14] She collaborated with Richard Mort at Lancaster University to develop a fluorescent biosensor that illuminates dividing cilia and cells.[15] The technique allows the study of the interactions between cilia and cells in development, regeneration and disease.<[16] It investigates how cilia length and dynamics impact the speed of cell division and tissue development.[17]

Awards and honours

In 2018 Mill was awarded the British Society for Cell Biology Women in Cell Biology Early Career Medal.[4]

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References
  1. Pleasantine Mill publications indexed by Google Scholar
  2. Mill, Pleasantine (2004). The role of Shh-dependent Gli activator and repressor functions in epidermal development and disease (PhD thesis). University of Toronto. OCLC 61300528. ProQuest 305068261. (subscription required)
  3. Pleasantine Mill publications indexed by the Scopus bibliographic database. (subscription required)
  4. "WICB Medal Winner 2019: Pleasantine Mill". British Society for Cell Biology. Retrieved 2018-12-17.
  5. "Dr Pleasantine Mill". ed.ac.uk. University of Edinburgh. Retrieved 2018-12-17.
  6. Nicolas, Michael; Wolfer, Anita; Raj, Kenneth; Kummer, J. Alain; Mill, Pleasantine; van Noort, Mascha; Hui, Chi-chung; Clevers, Hans; Dotto, G. Paolo; Radtke, Freddy (2003). "Notch1 functions as a tumor suppressor in mouse skin". Nature Genetics. 33 (3): 416–421. doi:10.1038/ng1099. ISSN 1061-4036. PMID 12590261.
  7. Fernandes, Karl J. L.; McKenzie, Ian A.; Mill, Pleasantine; Smith, Kristen M.; Akhavan, Mahnaz; Barnabé-Heider, Fanie; Biernaskie, Jeff; Junek, Adrienne; Kobayashi, Nao R.; Toma, Jean G.; Kaplan, David R.; Labosky, Patricia A.; Rafuse, Victor; Hui, Chi-Chung; Miller, Freda D. (2004). "A dermal niche for multipotent adult skin-derived precursor cells". Nature Cell Biology. 6 (11): 1082–1093. doi:10.1038/ncb1181. ISSN 1465-7392. PMID 15517002.
  8. Ruiz i Altaba, Ariel (2006). Hedgehog-Gli Signaling in Human Disease. doi:10.1007/0-387-33777-6. ISBN 9781489989765.
  9. "Molecular Genetics of Mammalian Cilia in Development and Disease". ukri.org. Retrieved 2018-12-17.
  10. "Blindness study shows how gene causes middle-age sight loss". ScienceDaily.com. Retrieved 2018-12-17.
  11. "Molecular motor clue to rare genetic disorder". The University of Edinburgh. Retrieved 2018-12-17.
  12. Mali, Girish R.; Yeyati, Patricia L.; Mizuno, Seiya; Dodd, Daniel O.; Tennant, Peter A.; Keighren, Margaret A.; Lage, Petra zur; Shoemark, Amelia; Garcia-Munoz, Amaya (2018). "ZMYND10 functions in a chaperone relay during axonemal dynein assembly". eLife. 7. doi:10.7554/elife.34389. PMC 6044906. PMID 29916806.
  13. "Scottish PCD Awareness Day – PCD Support". pcdsupport.org.uk. Retrieved 2018-12-17.
  14. "Written evidence - Pleasantine Mill and Jane Lucas, MRC Human Genetics Unit". data.parliament.uk. Retrieved 2018-12-17.
  15. "Monitoring real time changes during cell division". phys.org. Retrieved 2018-12-17.
  16. Mill, Pleasantine; Lockhart, Paul J.; Fitzpatrick, Elizabeth; Mountford, Hayley S.; Hall, Emma A.; Reijns, Martin A.M.; Keighren, Margaret; Bahlo, Melanie; Bromhead, Catherine J.; Budd, Peter; Aftimos, Salim; Delatycki, Martin B.; Savarirayan, Ravi; Jackson, Ian J.; Amor, David J. (2011). "Human and Mouse Mutations in WDR35 Cause Short-Rib Polydactyly Syndromes Due to Abnormal Ciliogenesis". American Journal of Human Genetics. 88 (4): 508–515. doi:10.1016/j.ajhg.2011.03.015. ISSN 0002-9297. PMC 3071922. PMID 21473986.
  17. "Seeing is believing: monitoring real time changes during cell division". lancaster.ac.uk. Retrieved 2018-12-17.
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