دورية أكاديمية
Ciliogenesis and cell cycle alterations contribute to KIF2A-related malformations of cortical development.
| العنوان: | Ciliogenesis and cell cycle alterations contribute to KIF2A-related malformations of cortical development. |
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| المؤلفون: | Broix L; Institut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch 67400, France.; CNRS U7104, Illkirch 67400, France.; INSERM U964, Illkirch 67400, France.; Université de Strasbourg, Illkirch 67400, France.; Institut Cochin, INSERM U1016, CNRS U8104, Paris Descartes University, Paris 75000, France., Asselin L; Institut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch 67400, France.; CNRS U7104, Illkirch 67400, France.; INSERM U964, Illkirch 67400, France.; Université de Strasbourg, Illkirch 67400, France., Silva CG; GIGA-Neurosciences, University of Liège, C.H.U. Sart Tilman, Liège 4000, Belgium., Ivanova EL; Institut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch 67400, France.; CNRS U7104, Illkirch 67400, France.; INSERM U964, Illkirch 67400, France.; Université de Strasbourg, Illkirch 67400, France., Tilly P; Institut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch 67400, France.; CNRS U7104, Illkirch 67400, France.; INSERM U964, Illkirch 67400, France.; Université de Strasbourg, Illkirch 67400, France., Gilet JG; Institut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch 67400, France.; CNRS U7104, Illkirch 67400, France.; INSERM U964, Illkirch 67400, France.; Université de Strasbourg, Illkirch 67400, France., Lebrun N; Institut Cochin, INSERM U1016, CNRS U8104, Paris Descartes University, Paris 75000, France., Jagline H; Institut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch 67400, France.; CNRS U7104, Illkirch 67400, France.; INSERM U964, Illkirch 67400, France.; Université de Strasbourg, Illkirch 67400, France., Muraca G; Institut Cochin, INSERM U1016, CNRS U8104, Paris Descartes University, Paris 75000, France., Saillour Y; Institut Cochin, INSERM U1016, CNRS U8104, Paris Descartes University, Paris 75000, France., Drouot N; Institut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch 67400, France.; CNRS U7104, Illkirch 67400, France.; INSERM U964, Illkirch 67400, France.; Université de Strasbourg, Illkirch 67400, France., Reilly ML; Paris Diderot University, Paris 75013, France.; INSERM UMR 1163, Paris 75015, France.; Paris Descartes - Sorbonne Paris Cité University, Imagine Institute, Paris 75015, France., Francis F; Inserm UMR-S 839, Paris 75005, France.; Sorbonne Université, Université Pierre et Marie Curie, Paris 75000, France.; Institut du Fer à Moulin, Paris 75000, France., Benmerah A; INSERM UMR 1163, Paris 75015, France.; Paris Descartes - Sorbonne Paris Cité University, Imagine Institute, Paris 75015, France., Bahi-Buisson N; Paris Diderot University, Paris 75013, France.; INSERM UMR 1163, Paris 75015, France., Belvindrah R; Inserm UMR-S 839, Paris 75005, France.; Sorbonne Université, Université Pierre et Marie Curie, Paris 75000, France.; Institut du Fer à Moulin, Paris 75000, France., Nguyen L; GIGA-Neurosciences, University of Liège, C.H.U. Sart Tilman, Liège 4000, Belgium., Godin JD; Institut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch 67400, France.; CNRS U7104, Illkirch 67400, France.; INSERM U964, Illkirch 67400, France.; Université de Strasbourg, Illkirch 67400, France., Chelly J; Institut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch 67400, France.; CNRS U7104, Illkirch 67400, France.; INSERM U964, Illkirch 67400, France.; Université de Strasbourg, Illkirch 67400, France.; Service de Diagnostic Génétique, Hôpital Civil de Strasbourg, Hôpitaux Universitaires de Strasbourg, Strasbourg 67000, France., Hinckelmann MV; Institut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch 67400, France.; CNRS U7104, Illkirch 67400, France.; INSERM U964, Illkirch 67400, France.; Université de Strasbourg, Illkirch 67400, France. |
| المصدر: | Human molecular genetics [Hum Mol Genet] 2018 Jan 15; Vol. 27 (2), pp. 224-238. |
| نوع المنشور: | Journal Article; Research Support, Non-U.S. Gov't |
| اللغة: | English |
| بيانات الدورية: | Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model: Print Cited Medium: Internet ISSN: 1460-2083 (Electronic) Linking ISSN: 09646906 NLM ISO Abbreviation: Hum Mol Genet Subsets: MEDLINE |
| أسماء مطبوعة: | Original Publication: Oxford, England ; New York : IRL Press at Oxford University Press, c1992- |
| مواضيع طبية MeSH: | Cilia/*genetics , Kinesins/*metabolism , Malformations of Cortical Development/*genetics , Repressor Proteins/*metabolism, Animals ; Brain/metabolism ; Cell Cycle/genetics ; Cilia/physiology ; HeLa Cells ; Humans ; Kinesins/genetics ; Malformations of Cortical Development/metabolism ; Mice ; Microcephaly/metabolism ; Microtubules/metabolism ; Neurogenesis ; Repressor Proteins/genetics ; Spindle Apparatus/metabolism ; Tubulin/metabolism |
| مستخلص: | Genetic findings reported by our group and others showed that de novo missense variants in the KIF2A gene underlie malformations of brain development called pachygyria and microcephaly. Though KIF2A is known as member of the Kinesin-13 family involved in the regulation of microtubule end dynamics through its ATP dependent MT-depolymerase activity, how KIF2A variants lead to brain malformations is still largely unknown. Using cellular and in utero electroporation approaches, we show here that KIF2A disease-causing variants disrupts projection neuron positioning and interneuron migration, as well as progenitors proliferation. Interestingly, further dissection of this latter process revealed that ciliogenesis regulation is also altered during progenitors cell cycle. Altogether, our data suggest that deregulation of the coupling between ciliogenesis and cell cycle might contribute to the pathogenesis of KIF2A-related brain malformations. They also raise the issue whether ciliogenesis defects are a hallmark of other brain malformations, such as those related to tubulins and MT-motor proteins variants. (© The Author 2017. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com.) |
| المشرفين على المادة: | 0 (KIF2A protein, human) 0 (Repressor Proteins) 0 (Tubulin) EC 3.6.1.- (KIF2A protein, mouse) EC 3.6.4.4 (Kinesins) |
| تواريخ الأحداث: | Date Created: 20171028 Date Completed: 20190103 Latest Revision: 20211204 |
| رمز التحديث: | 20240628 |
| DOI: | 10.1093/hmg/ddx384 |
| PMID: | 29077851 |
| قاعدة البيانات: | MEDLINE |
Full Text Finder | تدمد: | 1460-2083 |
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| DOI: | 10.1093/hmg/ddx384 |