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Genetics, activity, and cell-type specification in a mouse model of a recently described neurodevelopmental brain disorder

le 24 mars 2022

Séminaire de Michèle Studer (Institut de Biologie Valrose, Université Côte d’Azur, Nice)

Neocortical arealization is a developmental process in which the primordial cortical neuroepithelium becomes shaped into a structure subdivided into several tangential domains with distinct and complex functions. Despite an apparently similar laminar and cell-type organization, neocortical areas have distinct features in terms of molecular identity, morphology, activity and long-range connectivity of residing projection neurons, leading ultimately to the formation of functional cortical maps. The molecular mechanisms by which neuronal subtypes within cortical layers and across functional domains are specified, as well as their precise assembly into distinct functional areas of the neocortex, are fundamental for understanding proper brain activity and assembly. Several transcription factors expressed in distinct prospective areas and cortical subtypes control the specification and connectivity of a given neuronal sub-population. This talk will give an overview of how diverse populations of cortical projection neurons are coordinated into high-functional territories and how they interact during assembly of cortical circuits into distinct functional areas in healthy and pathological conditions. I will then focus on the role of a key area patterning gene, called Nr2f1 or COUP-TFI, which acts during early organization of the primordial cortex and which mutations leads to a newly emerging rare neurodevelopmental disorder, called BBSOAS (Boonstra-Bosch-Schaff Optic Atrophy Syndrome). The relationships between impaired cortical development, malformations and consequent symptoms in BBSOAS children will be discussed during the talk. Understanding the basic mechanisms of cortical development is primordial, if we want to properly diagnose and find targeted therapies for children with genetic cognitive disorders.

Relevant publications:

  1. Bertacchi M, Romano AL, Loubat A, Tran Mau-Them F, Willems M, Kuentz P, Faivre L, Philippe C, Perrin L, Garde A, Devillard F, Sorlin A, Di Giaimo R, Cappello S, D’Incerti L, Frassoni C, Studer M. NR2F1 Regulates Regional Progenitor Dynamics in the Mouse Neocortex and Cortical Gyrification in BBSOAS Patients EMBO J. 2020 Jun 2:e104163. doi: 10.15252/embj.2019104163.

  2. Del Pino I., Tocco C., Magrinelli E., Marcantoni A., Ferraguto C., Tomagra G., Alfano C., Leinekugel X., Frick A., Studer M. COUP-TFI/Nr2f1 orchestrates intrinsic neuronal activity during cortical area patterning. Cerebral Cortex 2020 Jun 23;bhaa137. doi: 10.1093/cercor/bhaa137.

  3. Bertacchi M., Gruart A., Kaimakis P., Allet C., Serra L., Giacobini P., Delgado-García J.M., Bovolenta P. and Studer M. Mouse Nr2f1 haploinsufficiency unveils new pathological mechanisms of a human optic atrophy syndrome. EMBO Mol Med 2019 Jul 18:e10291. doi: 10.15252/emmm.201910291.

  4. Bonzano S., Crisci I., Podlesny-Drabiniok, A., Krezel W., Studer M.*, De Marchis S.* Astrogliogenesis in the adult hippocampal neurogenic niche is cell-intrinsically controlled by COUP-TFI in vivo. Cell Reports 2018, Jul 10;24(2):329-341. doi: 10.1016/j.celrep.2018.06.044. *co-last authors. F1000 Prime Recommended.

  5. Alfano C., Magrinelli E., Harb K., Hevner R. F., and Studer M. Postmitotic control of sensory area specification during neocortical development. Nature Comm 2014 Dec 5;5:5632.

  6. Tomassy Srubek G., De Leonibus E., Jabaudon D., Lodato S., Alfano C., Mele A., Macklis J.D. and Studer M. Area-specific temporal control of corticospinal motor neuron differentiation by COUP- TFI. Proc Natl Acad Sci USA 2010, 107(8): 3576-81.

  7. Armentano M., Chou S. J., Srubek Tomassy G., Leingärtner A., O’Leary D.D.M. and Studer M. COUP-TFI regulates the balance of cortical patterning between frontal/motor and sensory areas. Nat Neurosci 2007, 10, 1277-1286.

    Michèle Studer est invitée par Annie Andrieux.

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Amphi Kampf
Mise à jour le 16 décembre 2021

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