دورية أكاديمية
Haploinsufficiency of the HIRA gene located in the 22q11 deletion syndrome region is associated with abnormal neurodevelopment and impaired dendritic outgrowth.
| العنوان: | Haploinsufficiency of the HIRA gene located in the 22q11 deletion syndrome region is associated with abnormal neurodevelopment and impaired dendritic outgrowth. |
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| المؤلفون: | Jeanne M; Service de Génétique, Centre Hospitalier Régional Universitaire, Tours, France.; UMR 1253, iBrain, University of Tours, Inserm, Tours, France., Vuillaume ML; Service de Génétique, Centre Hospitalier Régional Universitaire, Tours, France.; UMR 1253, iBrain, University of Tours, Inserm, Tours, France., Ung DC; UMR 1253, iBrain, University of Tours, Inserm, Tours, France., Vancollie VE; Wellcome Sanger Institute, Wellcome Genome Campus, Cambridge, Hinxton, UK., Wagner C; Centre National de la Recherche Scientifique, UMR 7104, Illkirch, France.; Institut National de la Santé et de la Recherche Médicale (Inserm), U 1258, Illkirch, France.; Université de Strasbourg, Illkirch, France., Collins SC; Centre National de la Recherche Scientifique, UMR 7104, Illkirch, France.; Institut National de la Santé et de la Recherche Médicale (Inserm), U 1258, Illkirch, France.; Université de Strasbourg, Illkirch, France., Vonwill S; Service de Génétique, Centre Hospitalier Régional Universitaire, Tours, France., Haye D; Service de Génétique, Centre Hospitalier Régional Universitaire, Tours, France., Chelloug N; Service de Génétique, Centre Hospitalier Régional Universitaire, Tours, France., Pfundt R; Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands., Kummeling J; Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands., Moizard MP; Service de Génétique, Centre Hospitalier Régional Universitaire, Tours, France., Marouillat S; UMR 1253, iBrain, University of Tours, Inserm, Tours, France., Kleefstra T; Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands., Yalcin B; Centre National de la Recherche Scientifique, UMR 7104, Illkirch, France.; Institut National de la Santé et de la Recherche Médicale (Inserm), U 1258, Illkirch, France.; Université de Strasbourg, Illkirch, France., Laumonnier F; Service de Génétique, Centre Hospitalier Régional Universitaire, Tours, France. frederic.laumonnier@inserm.fr.; UMR 1253, iBrain, University of Tours, Inserm, Tours, France. frederic.laumonnier@inserm.fr., Toutain A; Service de Génétique, Centre Hospitalier Régional Universitaire, Tours, France.; UMR 1253, iBrain, University of Tours, Inserm, Tours, France. |
| المصدر: | Human genetics [Hum Genet] 2021 Jun; Vol. 140 (6), pp. 885-896. Date of Electronic Publication: 2021 Jan 08. |
| نوع المنشور: | Journal Article |
| اللغة: | English |
| بيانات الدورية: | Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7613873 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1203 (Electronic) Linking ISSN: 03406717 NLM ISO Abbreviation: Hum Genet Subsets: MEDLINE |
| أسماء مطبوعة: | Publication: Berlin : Springer Verlag Original Publication: Berlin, New York, Springer-Verlag. |
| مواضيع طبية MeSH: | Haploinsufficiency*, Cell Cycle Proteins/*genetics , DiGeorge Syndrome/*genetics , Histone Chaperones/*genetics , Neurodevelopmental Disorders/*genetics , Neuronal Plasticity/*genetics , Neurons/*metabolism , Transcription Factors/*genetics, Animals ; Base Sequence ; Cell Cycle Proteins/antagonists & inhibitors ; Cell Cycle Proteins/deficiency ; Cell Cycle Proteins/metabolism ; Child ; Child, Preschool ; Corpus Callosum/metabolism ; Corpus Callosum/pathology ; DiGeorge Syndrome/metabolism ; DiGeorge Syndrome/pathology ; Female ; Fornix, Brain/metabolism ; Fornix, Brain/pathology ; Gene Expression ; Heterozygote ; Hippocampus/metabolism ; Hippocampus/pathology ; Histone Chaperones/antagonists & inhibitors ; Histone Chaperones/deficiency ; Histone Chaperones/metabolism ; Humans ; Mice ; Neurodevelopmental Disorders/metabolism ; Neurodevelopmental Disorders/pathology ; Neurogenesis/genetics ; Neurons/pathology ; Primary Cell Culture ; RNA, Small Interfering/genetics ; RNA, Small Interfering/metabolism ; Transcription Factors/antagonists & inhibitors ; Transcription Factors/deficiency ; Transcription Factors/metabolism |
| مستخلص: | The 22q11.2 deletion syndrome (22q11DS) is associated with a wide spectrum of cognitive and psychiatric symptoms. Despite the considerable work performed over the past 20 years, the genetic etiology of the neurodevelopmental phenotype remains speculative. Here, we report de novo heterozygous truncating variants in the HIRA (Histone cell cycle regulation defective, S. Cerevisiae, homolog of, A) gene associated with a neurodevelopmental disorder in two unrelated patients. HIRA is located within the commonly deleted region of the 22q11DS and encodes a histone chaperone that regulates neural progenitor proliferation and neurogenesis, and that belongs to the WD40 Repeat (WDR) protein family involved in brain development and neuronal connectivity. To address the specific impact of HIRA haploinsufficiency in the neurodevelopmental phenotype of 22q11DS, we combined Hira knock-down strategies in developing mouse primary hippocampal neurons, and the direct study of brains from heterozygous Hira +/- mice. Our in vitro analyses revealed that Hira gene is mostly expressed during neuritogenesis and early dendritogenesis stages in mouse total brain and in developing primary hippocampal neurons. Moreover, shRNA knock-down experiments showed that a twofold decrease of endogenous Hira expression level resulted in an impaired dendritic growth and branching in primary developing hippocampal neuronal cultures. In parallel, in vivo analyses demonstrated that Hira +/- mice displayed subtle neuroanatomical defects including a reduced size of the hippocampus, the fornix and the corpus callosum. Our results suggest that HIRA haploinsufficiency would likely contribute to the complex pathophysiology of the neurodevelopmental phenotype of 22q11DS by impairing key processes in neurogenesis and by causing neuroanatomical defects during cerebral development. |
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| المشرفين على المادة: | 0 (Cell Cycle Proteins) 0 (HIRA protein, human) 0 (Hira protein, mouse) 0 (Histone Chaperones) 0 (RNA, Small Interfering) 0 (Transcription Factors) |
| تواريخ الأحداث: | Date Created: 20210108 Date Completed: 20210512 Latest Revision: 20210512 |
| رمز التحديث: | 20240628 |
| DOI: | 10.1007/s00439-020-02252-1 |
| PMID: | 33417013 |
| قاعدة البيانات: | MEDLINE |
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| DOI: | 10.1007/s00439-020-02252-1 |