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The polymicrogyria-associated GPR56 promoter preferentially drives gene expression in developing GABAergic neurons in common marmosets
by
Bae, Byoung-Il
, Okuno, Misako
, Walsh, Christopher A.
, Mashiko, Hiromi
, Okahara, Junko
, Murayama, Ayako Y.
, Sasaki, Erika
, Kuwako, Ken-ichiro
, Shimogori, Tomomi
, Okano, Hideyuki
in
631/136
/ 631/136/368
/ 631/136/368/2430
/ 631/378
/ 631/378/1689
/ 631/378/2571
/ Animals
/ Animals, Genetically Modified - genetics
/ Base Sequence - genetics
/ Brain - metabolism
/ Callithrix - genetics
/ Callithrix - metabolism
/ Cell Movement - genetics
/ Cerebral cortex
/ Cerebral Cortex - metabolism
/ Epilepsy
/ Fetuses
/ GABAergic Neurons - metabolism
/ Gene deletion
/ Gene expression
/ Gene Expression - genetics
/ Glutamatergic transmission
/ Homozygote
/ Humanities and Social Sciences
/ Humans
/ multidisciplinary
/ Mutation
/ Mutation - genetics
/ Neural stem cells
/ Neural Stem Cells - metabolism
/ Neurons
/ Non-coding RNA
/ Polymicrogyria
/ Polymicrogyria - genetics
/ Polymicrogyria - metabolism
/ Polymicrogyria - pathology
/ Progenitor cells
/ Promoter Regions, Genetic - genetics
/ Proteins
/ Receptors, G-Protein-Coupled - genetics
/ Receptors, G-Protein-Coupled - metabolism
/ Science
/ Science (multidisciplinary)
/ Sequence Deletion - genetics
/ Ventricle
/ Ventricular zone
/ γ-Aminobutyric acid
2020
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The polymicrogyria-associated GPR56 promoter preferentially drives gene expression in developing GABAergic neurons in common marmosets
by
Bae, Byoung-Il
, Okuno, Misako
, Walsh, Christopher A.
, Mashiko, Hiromi
, Okahara, Junko
, Murayama, Ayako Y.
, Sasaki, Erika
, Kuwako, Ken-ichiro
, Shimogori, Tomomi
, Okano, Hideyuki
in
631/136
/ 631/136/368
/ 631/136/368/2430
/ 631/378
/ 631/378/1689
/ 631/378/2571
/ Animals
/ Animals, Genetically Modified - genetics
/ Base Sequence - genetics
/ Brain - metabolism
/ Callithrix - genetics
/ Callithrix - metabolism
/ Cell Movement - genetics
/ Cerebral cortex
/ Cerebral Cortex - metabolism
/ Epilepsy
/ Fetuses
/ GABAergic Neurons - metabolism
/ Gene deletion
/ Gene expression
/ Gene Expression - genetics
/ Glutamatergic transmission
/ Homozygote
/ Humanities and Social Sciences
/ Humans
/ multidisciplinary
/ Mutation
/ Mutation - genetics
/ Neural stem cells
/ Neural Stem Cells - metabolism
/ Neurons
/ Non-coding RNA
/ Polymicrogyria
/ Polymicrogyria - genetics
/ Polymicrogyria - metabolism
/ Polymicrogyria - pathology
/ Progenitor cells
/ Promoter Regions, Genetic - genetics
/ Proteins
/ Receptors, G-Protein-Coupled - genetics
/ Receptors, G-Protein-Coupled - metabolism
/ Science
/ Science (multidisciplinary)
/ Sequence Deletion - genetics
/ Ventricle
/ Ventricular zone
/ γ-Aminobutyric acid
2020
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The polymicrogyria-associated GPR56 promoter preferentially drives gene expression in developing GABAergic neurons in common marmosets
by
Bae, Byoung-Il
, Okuno, Misako
, Walsh, Christopher A.
, Mashiko, Hiromi
, Okahara, Junko
, Murayama, Ayako Y.
, Sasaki, Erika
, Kuwako, Ken-ichiro
, Shimogori, Tomomi
, Okano, Hideyuki
in
631/136
/ 631/136/368
/ 631/136/368/2430
/ 631/378
/ 631/378/1689
/ 631/378/2571
/ Animals
/ Animals, Genetically Modified - genetics
/ Base Sequence - genetics
/ Brain - metabolism
/ Callithrix - genetics
/ Callithrix - metabolism
/ Cell Movement - genetics
/ Cerebral cortex
/ Cerebral Cortex - metabolism
/ Epilepsy
/ Fetuses
/ GABAergic Neurons - metabolism
/ Gene deletion
/ Gene expression
/ Gene Expression - genetics
/ Glutamatergic transmission
/ Homozygote
/ Humanities and Social Sciences
/ Humans
/ multidisciplinary
/ Mutation
/ Mutation - genetics
/ Neural stem cells
/ Neural Stem Cells - metabolism
/ Neurons
/ Non-coding RNA
/ Polymicrogyria
/ Polymicrogyria - genetics
/ Polymicrogyria - metabolism
/ Polymicrogyria - pathology
/ Progenitor cells
/ Promoter Regions, Genetic - genetics
/ Proteins
/ Receptors, G-Protein-Coupled - genetics
/ Receptors, G-Protein-Coupled - metabolism
/ Science
/ Science (multidisciplinary)
/ Sequence Deletion - genetics
/ Ventricle
/ Ventricular zone
/ γ-Aminobutyric acid
2020
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The polymicrogyria-associated GPR56 promoter preferentially drives gene expression in developing GABAergic neurons in common marmosets
Journal Article
The polymicrogyria-associated GPR56 promoter preferentially drives gene expression in developing GABAergic neurons in common marmosets
2020
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Overview
GPR56, a member of the adhesion G protein-coupled receptor family, is abundantly expressed in cells of the developing cerebral cortex, including neural progenitor cells and developing neurons. The human
GPR56
gene has multiple presumptive promoters that drive the expression of the GPR56 protein in distinct patterns. Similar to coding mutations of the human
GPR56
gene that may cause GPR56 dysfunction, a 15-bp homozygous deletion in the cis-regulatory element upstream of the noncoding exon 1 of
GPR56
(
e1m
) leads to the cerebral cortex malformation and epilepsy. To clarify the expression profile of the
e1m
promoter-driven GPR56 in primate brain, we generated a transgenic marmoset line in which EGFP is expressed under the control of the human minimal
e1m
promoter. In contrast to the endogenous GPR56 protein, which is highly enriched in the ventricular zone of the cerebral cortex, EGFP is mostly expressed in developing neurons in the transgenic fetal brain. Furthermore, EGFP is predominantly expressed in GABAergic neurons, whereas the total GPR56 protein is evenly expressed in both GABAergic and glutamatergic neurons, suggesting the GABAergic neuron-preferential activity of the minimal
e1m
promoter. These results indicate a possible pathogenic role for GABAergic neuron in the cerebral cortex of patients with
GPR56
mutations.
Publisher
Nature Publishing Group UK,Nature Publishing Group,Nature Portfolio
Subject
/ 631/378
/ Animals
/ Animals, Genetically Modified - genetics
/ Cerebral Cortex - metabolism
/ Epilepsy
/ Fetuses
/ GABAergic Neurons - metabolism
/ Humanities and Social Sciences
/ Humans
/ Mutation
/ Neural Stem Cells - metabolism
/ Neurons
/ Promoter Regions, Genetic - genetics
/ Proteins
/ Receptors, G-Protein-Coupled - genetics
/ Receptors, G-Protein-Coupled - metabolism
/ Science
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