Identifying domains of EFHC1 involved in ciliary localization, ciliogenesis, and the regulation of Wnt signaling

Developmental Biology
Ying ZhaoMichael W Klymkowsky

Abstract

EFHC1 encodes a ciliary protein that has been linked to Juvenile Myoclonic Epilepsy. In ectodermal explants, derived from Xenopus laevis embryos, the morpholino-mediated down-regulation of EFHC1b inhibited multiciliated cell formation. In those ciliated cells that did form, axoneme but not basal body formation was inhibited. EFHC1b morphant embryos displayed defects in central nervous system (CNS) and neural crest patterning that were rescued by a EFHC1b-GFP chimera. EFHC1b-GFP localized to ciliary axonemes in epidermal, gastrocoele roof plate, and neural tube cells. In X. laevis there is a link between Wnt signaling and multiciliated cell formation. While down-regulation of EFHC1b led to a ~2-fold increase in the activity of the β-catenin/Wnt-responsive TOPFLASH reporter, EFHC1b-GFP did not inhibit β-catenin activation of TOPFLASH. Wnt8a RNA levels were increased in EFHC1b morphant ectodermal explants and intact embryos, analyzed prior to the on-set of ciliogenesis. Rescue of the EFHC1b MO's ciliary axonemal phenotypes required the entire protein; in contrast, the EFHC1b morpholino's Wnt8a, CNS, and neural crest phenotypes were rescued by a truncated form of EFHC1b. The EFHC1b morpholino's Wnt8a phenotype was also rescued by t...Continue Reading

References

Mar 23, 2000·Mechanisms of Development·L S Gammill, H Sive
Jul 20, 2004·Nature Genetics·Toshimitsu SuzukiKazuhiro Yamakawa
Mar 31, 2006·Cell Motility and the Cytoskeleton·Stephen M King
Jul 13, 2006·Experimental Cell Research·Peter W SetterRichard W Linck
Jan 6, 2007·PloS One·Chi ZhangMichael W Klymkowsky
Sep 6, 2007·The Journal of Cell Biology·Chandra L KilburnMark Winey
Jan 1, 2008·Biochemical and Biophysical Research Communications·Toshimitsu SuzukiKazuhiro Yamakawa
Jun 25, 2008·The Journal of Cell Biology·Feng-Qian LiKen-Ichi Takemaru
Jan 17, 2009·Human Molecular Genetics·Toshimitsu SuzukiKazuhiro Yamakawa
Jan 23, 2009·Cell Cycle·Ken-Ichi TakemaruFeng-Qian Li
Feb 4, 2011·Genes & Development·John B Wallingford, Brian Mitchell
Apr 22, 2011·The New England Journal of Medicine·Friedhelm HildebrandtNicholas Katsanis
Jul 1, 2011·Development·Jianli ShiMichael W Klymkowsky
Nov 16, 2011·Genesis : the Journal of Genetics and Development·M E Werner, B J Mitchell
Dec 20, 2011·The Journal of Pediatrics·Thomas W Ferkol, Margaret W Leigh
Jul 11, 2012·Developmental Dynamics : an Official Publication of the American Association of Anatomists·Kyeongmi KimSergei Y Sokol
Jun 14, 2013·Epilepsy & Behavior : E&B·Laurence de NijsBernard Lakaye
Jun 14, 2013·Epilepsy & Behavior : E&B·Kazuhiro Yamakawa, Toshimitsu Suzuki
Apr 3, 2014·The Journal of Clinical Investigation·Yangfan P LiuNicholas Katsanis
Oct 15, 2014·Nucleic Acids Research·J Brad KarpinkaPeter D Vize
Jan 28, 2015·Epilepsy & Behavior : E&B·Felix von PodewilsUwe Runge
May 12, 2015·Bioscience·Jason M Brown, George B Witman
Jul 15, 2015·Nature·Andrea RossiDidier Y R Stainier

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Citations

Jan 18, 2017·Genesis : the Journal of Genetics and Development·Amy K Sater, Sally A Moody
Apr 4, 2017·Human Mutation·Praveen K RajuAnuranjan Anand
Aug 23, 2018·Molecular Biology of the Cell·Daniel StoddardDaniela Nicastro
May 25, 2018·FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology·Yuan LiJiankang Liu
Nov 25, 2016·Frontiers in Pharmacology·Massimiliano BerrettaRaffaele Di Francia
Oct 2, 2019·Cells·Yu JiChengji J Zhou
Oct 16, 2019·Frontiers in Cellular Neuroscience·Maxime GilsoulBernard Lakaye
Jun 1, 2017·Cilia·Tristan D McClure-Begley, Michael W Klymkowsky
Apr 24, 2021·Asian Journal of Psychiatry·Dhruva IthalSanjeev Jain

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