دورية أكاديمية
أعرض في EDS

The Fuzzy planar cell polarity protein (FUZ), necessary for primary cilium formation, is essential for pituitary development.

التفاصيل البيبلوغرافية
العنوان: The Fuzzy planar cell polarity protein (FUZ), necessary for primary cilium formation, is essential for pituitary development.
المؤلفون: Lodge EJ; Centre for Craniofacial and Regenerative Biology, King's College London, London, UK., Barrell WB; Centre for Craniofacial and Regenerative Biology, King's College London, London, UK., Liu KJ; Centre for Craniofacial and Regenerative Biology, King's College London, London, UK., Andoniadou CL; Centre for Craniofacial and Regenerative Biology, King's College London, London, UK.; Department of Medicine III, University Hospital Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany.
المصدر: Journal of anatomy [J Anat] 2024 Feb; Vol. 244 (2), pp. 358-367. Date of Electronic Publication: 2023 Oct 04.
نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't
اللغة: English
بيانات الدورية: Publisher: Blackwell Publishing Country of Publication: England NLM ID: 0137162 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1469-7580 (Electronic) Linking ISSN: 00218782 NLM ISO Abbreviation: J Anat Subsets: MEDLINE
أسماء مطبوعة: Publication: 2002- : Oxford : Blackwell Publishing
Original Publication: London, Cambridge Univ. Press [etc.].
مواضيع طبية MeSH: Cell Polarity* , Cilia*/physiology, Animals ; Mice ; Hedgehog Proteins/metabolism ; Mice, Knockout ; Pituitary Gland/metabolism ; Proteins/metabolism
مستخلص: The primary cilium is an essential organelle that is important for normal cell signalling during development and homeostasis but its role in pituitary development has not been reported. The primary cilium facilitates signal transduction for multiple pathways, the best-characterised being the SHH pathway, which is known to be necessary for correct pituitary gland development. FUZ is a planar cell polarity (PCP) effector that is essential for normal ciliogenesis, where the primary cilia of Fuz -/- mutants are shorter or non-functional. FUZ is part of a group of proteins required for recruiting retrograde intraflagellar transport proteins to the base of the organelle. Previous work has reported ciliopathy phenotypes in Fuz -/- homozygous null mouse mutants, including neural tube defects, craniofacial abnormalities, and polydactyly, alongside PCP defects including kinked/curly tails and heart defects. Interestingly, the pituitary gland was reported to be missing in Fuz -/- mutants at 14.5 dpc but the mechanisms underlying this phenotype were not investigated. Here, we have analysed the pituitary development of Fuz -/- mutants. Histological analyses reveal that Rathke's pouch (RP) is initially induced normally but is not specified and fails to express LHX3, resulting in hypoplasia and apoptosis. Characterisation of SHH signalling reveals reduced pathway activation in Fuz -/- mutant relative to control embryos, leading to deficient specification of anterior pituitary fate. Analyses of the key developmental signals FGF8 and BMP4, which are influenced by SHH, reveal abnormal patterning in the ventral diencephalon, contributing further to abnormal RP development. Taken together, our analyses suggest that primary cilia are required for normal pituitary specification through SHH signalling.
(© 2023 The Authors. Journal of Anatomy published by John Wiley & Sons Ltd on behalf of Anatomical Society.)
References: J Med Genet. 1999 Feb;36(2):161-6. (PMID: 10051020)
J Anat. 2024 Feb;244(2):358-367. (PMID: 37794731)
Development. 2000 Apr;127(8):1593-605. (PMID: 10725236)
Nat Methods. 2012 Jun 28;9(7):676-82. (PMID: 22743772)
Elife. 2019 Mar 26;8:. (PMID: 30912742)
Dev Biol. 2014 Dec 1;396(1):1-7. (PMID: 25300580)
J Cell Biol. 2012 Jul 9;198(1):37-45. (PMID: 22778277)
Ann Med. 2006;38(8):560-77. (PMID: 17438671)
Dev Cell. 2013 Jun 24;25(6):623-35. (PMID: 23806618)
Am J Hum Genet. 2005 Apr;76(4):609-22. (PMID: 15739154)
Dev Dyn. 2009 Dec;238(12):3035-42. (PMID: 19877275)
Am J Med Genet. 1980;7(1):75-83. (PMID: 7211954)
Development. 2017 Sep 15;144(18):3289-3302. (PMID: 28807898)
Nat Cell Biol. 2009 Oct;11(10):1225-32. (PMID: 19767740)
Science. 2010 Sep 10;329(5997):1337-40. (PMID: 20671153)
Int J Mol Med. 2021 Sep;48(3):. (PMID: 34278440)
Clin Endocrinol (Oxf). 2015 May;82(5):728-38. (PMID: 25327282)
Biomolecules. 2022 Jun 17;12(6):. (PMID: 35740972)
Cell Mol Life Sci. 2022 Dec 1;79(12):612. (PMID: 36451046)
BMC Biol. 2013 Mar 28;11:27. (PMID: 23537390)
Handb Clin Neurol. 2021;181:9-27. (PMID: 34238482)
Hum Mol Genet. 2011 Nov 15;20(22):4324-33. (PMID: 21840926)
Hum Mol Genet. 2002 May 1;11(9):1129-35. (PMID: 11978771)
J Clin Endocrinol Metab. 2018 May 1;103(5):1834-1841. (PMID: 29409041)
J Clin Endocrinol Metab. 2020 Jun 1;105(6):. (PMID: 32060556)
Development. 2001 Feb;128(3):377-86. (PMID: 11152636)
Eur J Hum Genet. 2022 Mar;30(3):282-290. (PMID: 34719684)
Am J Med Genet A. 2019 Jun;179(6):1010-1014. (PMID: 30895720)
Science. 1997 Dec 5;278(5344):1809-12. (PMID: 9388186)
Children (Basel). 2023 Mar 30;10(4):. (PMID: 37189898)
Development. 2013 Jun;140(11):2299-309. (PMID: 23674600)
Am J Med Genet. 1980;7(1):47-74. (PMID: 7211952)
Elife. 2017 Feb 13;6:. (PMID: 28177282)
Anat Embryol (Berl). 1985;171(2):187-92. (PMID: 3985368)
Dev Biol. 2016 Sep 1;417(1):4-10. (PMID: 27395007)
JCI Insight. 2020 Oct 27;5(23):. (PMID: 33108146)
Dev Cell. 2012 Mar 13;22(3):585-96. (PMID: 22421044)
Am J Med Genet. 1995 May 22;57(1):22-6. (PMID: 7645593)
An Esp Pediatr. 2000 Apr;52(4):401-5. (PMID: 11003938)
Dev Biol. 2010 Dec 15;348(2):199-209. (PMID: 20934421)
Am J Med Genet A. 2023 May;191(5):1282-1292. (PMID: 36826837)
PLoS One. 2011;6(9):e24608. (PMID: 21935430)
Hum Mutat. 2018 Jan;39(1):152-166. (PMID: 29068549)
معلومات مُعتمدة: MC_PC_21044 United Kingdom MRC_ Medical Research Council; MC/PC21044 United Kingdom MRC_ Medical Research Council; MR/T012153/1 United Kingdom MRC_ Medical Research Council; MC_PC_21047 United Kingdom MRC_ Medical Research Council; BB/X512047/1 United Kingdom BB_ Biotechnology and Biological Sciences Research Council
فهرسة مساهمة: Keywords: FUZ; SHH signalling; pituitary development; primary cilium
المشرفين على المادة: 0 (Hedgehog Proteins)
0 (Proteins)
0 (Fuz protein, mouse)
تواريخ الأحداث: Date Created: 20231005 Date Completed: 20240112 Latest Revision: 20240410
رمز التحديث: 20240410
مُعرف محوري في PubMed: PMC10780146
DOI: 10.1111/joa.13961
PMID: 37794731
قاعدة البيانات: MEDLINE
الوصف
تدمد:1469-7580
DOI:10.1111/joa.13961