Akt signaling modifies the balance between cell proliferation and migration in neural crest cells from patients affected with bosma arhinia and microphthalmia syndrome
| العنوان: | Akt signaling modifies the balance between cell proliferation and migration in neural crest cells from patients affected with bosma arhinia and microphthalmia syndrome |
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| المؤلفون: | Bruno Reversade, Anaïs Baudot, Jean Philippe Trani, Frédérique Magdinier, Shifeng Xue, Karine Nguyen, Jérôme D. Robin, Vanitha Venkoba Rao, Elva Maria Novoa-Del-Toro, Camille Laberthonnière, Raphaël Chevalier, Natacha Broucqsault |
| المساهمون: | Marseille medical genetics - Centre de génétique médicale de Marseille (MMG), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Département de génétique médicale [Hôpital de la Timone - APHM], Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Institut National de la Santé et de la Recherche Médicale (INSERM), Reversade, Bruno, Laberthonnière, C., Novoa-Del-Toro, E. M., Chevalier, R., Broucqsault, N., Rao, V. V., Trani, J. P., Nguyen, K., Xue, S., Robin, J. D., Baudot, A., Magdinier, F., School of Medicine, ACS - Heart failure & arrhythmias, ARD - Amsterdam Reproduction and Development |
| المصدر: | Biomedicines Volume 9 Issue 7 Biomedicines, MDPI, 2021, 9 (7), pp.751. ⟨10.3390/biomedicines9070751⟩ Biomedicines, Vol 9, Iss 751, p 751 (2021) Biomedicines, 2021, 9 (7), pp.751. ⟨10.3390/biomedicines9070751⟩ Biomedicines, 9(7):751. MDPI AG |
| سنة النشر: | 2021 |
| مصطلحات موضوعية: | QH301-705.5, [SDV]Life Sciences [q-bio], Medicine (miscellaneous), Biology, medicine.disease_cause, Microphthalmia, General Biochemistry, Genetics and Molecular Biology, Article, Transcriptome, 03 medical and health sciences, 0302 clinical medicine, medicine, RNA-Seq, Biology (General), Induced pluripotent stem cell, Protein kinase B, Biochemistry, Molecular biology, Research and experimental medicine, Pharmacology, Pharmacy, 030304 developmental biology, 0303 health sciences, Mutation, [SDV.GEN]Life Sciences [q-bio]/Genetics, Bosma Arhinia and Microphthalmia Syndrome, SMCHD1, Neural crest, medicine.disease, Phenotype, Cell biology, Induced pluripotent stem cells, Facio Scapulo Humeral Dystrophy, RNA-Seqneural crest stem cells, Systems biology, Stem cell, Neural crest stem cells, 030217 neurology & neurosurgery, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology |
| الوصف: | Over the recent years, the SMCHD1 (Structural Maintenance of Chromosome flexible Hinge Domain Containing 1) chromatin-associated factor has triggered increasing interest after the identification of variants in three rare and unrelated diseases, type 2 Facio Scapulo Humeral Dystrophy (FSHD2), Bosma Arhinia and Microphthalmia Syndrome (BAMS), and the more recently isolated hypogonadotrophic hypogonadism (IHH) combined pituitary hormone deficiency (CPHD) and septo-optic dysplasia (SOD). However, it remains unclear why certain mutations lead to a specific muscle defect in FSHD while other are associated with severe congenital anomalies. To gain further insights into the specificity of SMCHD1 variants and identify pathways associated with the BAMS phenotype and related neural crest defects, we derived induced pluripotent stem cells from patients carrying a mutation in this gene. We differentiated these cells in neural crest stem cells and analyzed their transcriptome by RNA-Seq. Besides classical differential expression analyses, we analyzed our data using MOGAMUN, an algorithm allowing the extraction of active modules by integrating differential expression data with biological networks. We found that in BAMS neural crest cells, all subnetworks that are associated with differentially expressed genes converge toward a predominant role for AKT signaling in the control of the cell proliferation-migration balance. Our findings provide further insights into the distinct mechanism by which defects in neural crest migration might contribute to the craniofacial anomalies in BAMS. Marseille Maladies Rares (MarMaRa) Institute French Investissement D’avenir Programme; NUS PYP Start-up Grant; Association Française contre les Myopathies; Fondation Maladies Rares; French Ministry of Education Fellowship; FSH Society; Excellence Initiative of Aix-Marseille University A*Midex; National Research Foundation; Branco Weiss Foundation; EMBO Young Investigator; Agency for Science & Technology and Research (A*STAR) Use-Inspired Basic Research (UIBR) Grant |
| وصف الملف: | application/pdf; text/academic publication |
| اللغة: | English |
| تدمد: | 2227-9059 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0adb94ab76a315ee460ccb96f965a57bTest http://www.scopus.com/inward/record.url?scp=85109493277&partnerID=8YFLogxKTest |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....0adb94ab76a315ee460ccb96f965a57b |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 22279059 |
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