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Pleasantine Mill

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Pleasantine Mill
Mill in 2016
Alma materMcGill University (BSc)
University of Toronto (PhD)
Occupation(s)Developmental and cell biologist
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

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]

Early life and education

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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

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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 with 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

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

References

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  1. ^ a b Pleasantine Mill publications indexed by Google Scholar Edit this at Wikidata
  2. ^ a b 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. ^ a b c d e "WICB Medal Winner 2019: Pleasantine Mill". British Society for Cell Biology. Retrieved 2018-12-17.
  5. ^ a b c d e "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. S2CID 12359172. Closed access icon
  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. S2CID 34420816. Closed access icon
  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. ^ a b "Blindness study shows how gene causes middle-age sight loss". ScienceDaily.com. Retrieved 2018-12-17.
  11. ^ a b "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. ^ a b "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.