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Corticogenesis

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https://www.readbyqxmd.com/read/28385010/coactosin-like-protein-1-inhibits-the-neuronal-migration-during-mouse-corticogenesis
#1
Guohong Li, Yupeng Yin, Jiong Chen, Yanle Fan, Juhong Ma, Yingxue Huang, Chen Chen, Pengxiu Dai, Shulin Chen, Shanting Zhao
Coactosin-like protein-1 (Cotl1), a member of the actin-depolymerizing factor (ADF)/cofilin family, was first purified from the soluble fraction of Dictyostelium discoideum cells. Neuronal migration requires cytoskeletal remodeling and actin regulation. Although Cotl1 strongly binds to F-actin, the role of Cotl1 in neuronal migration remains unknown. Here, we revealed that Cotl1 overexpression impaired the migration of both early- and late-born neurons during mouse corticogenesis. Moreover, Cotl1 overexpression delayed, rather than blocked, neuronal migration in late-born neurons...
April 6, 2017: Journal of Veterinary Science
https://www.readbyqxmd.com/read/28295210/cnvs-analysis-in-a-cohort-of-isolated-and-syndromic-dd-id-reveals-novel-genomic-disorders-position-effects-and-candidate-disease-genes
#2
Eleonora Di Gregorio, Evelise Riberi, Elga Fabia Belligni, Elisa Biamino, Malte Spielmann, Ugo Ala, Alessandro Calcia, Irene Bagnasco, Diana Carli, Giorgia Gai, Mara Giordano, Andrea Guala, Roberto Keller, Giorgia Mandrile, Carlo Arduino, Antonella Maffè, Valeria Giorgia Naretto, Fabio Sirchia, Lorena Sorasio, Silvana Ungari, Andrea Zonta, Giulia Zacchetti, Flavia Talarico, Patrizia Pappi, Simona Cavalieri, Elisa Giorgio, Cecilia Mancini, Marta Ferrero, Alessandro Brussino, Elisa Savin, Marina Gandione, Alessandra Pelle, Daniela Francesca Giachino, Mario De Marchi, Gabriella Restagno, Paolo Provero, Margherita Cirillo Silengo, Enrico Grosso, Joseph D Buxbaum, Barbara Pasini, Silvia De Rubeis, Alfredo Brusco, Giovanni Battista Ferrero
Array-comparative genomic hybridization (array-CGH) is a widely used technique to detect Copy Number Variants (CNVs) associated with developmental delay/intellectual disability (DD/ID). We performed a comprehensive array-CGH investigation of 1,015 consecutive cases with DD/ID and combined literature mining, genetic evidence, evolutionary constraint scores, and functional information in order to assess the pathogenicity of the CNVs. We identified non-benign CNVs in 29% of patients. Amongst the pathogenic variants (11%), detected with a yield consistent with the literature, we found rare genomic disorders and CNVs spanning known disease genes...
March 14, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28262759/role-of-a-circadian-relevant-gene-nr1d1-in-brain-development-possible-involvement-in-the-pathophysiology-of-autism-spectrum-disorders
#3
Masahide Goto, Makoto Mizuno, Ayumi Matsumoto, Zhiliang Yang, Eriko F Jimbo, Hidenori Tabata, Takanori Yamagata, Koh-Ichi Nagata
In our previous study, we screened autism spectrum disorder (ASD) patients with and without sleep disorders for mutations in the coding regions of circadian-relevant genes, and detected mutations in several clock genes including NR1D1. Here, we further screened ASD patients for NR1D1 mutations and identified three novel mutations including a de novo heterozygous one c.1499 G > A (p.R500H). We then analyzed the role of Nr1d1 in the development of the cerebral cortex in mice. Acute knockdown of mouse Nr1d1 with in utero electroporation caused abnormal positioning of cortical neurons during corticogenesis...
March 6, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28257707/a-back-door-to-cortical-development
#4
Gerd Kempermann
The mammalian cortex develops in an "inside-out" manner, as neural stem and progenitor cells lining the ventricles build the brain from within. Bifari et al. (2017), in this issue of Cell Stem Cell, find a small set of cortical neurons that appear to originate from radial glia-like progenitors in the meninges, suggesting an outside-in contribution to corticogenesis.
March 2, 2017: Cell Stem Cell
https://www.readbyqxmd.com/read/28160199/an-overview-of-the-mechanisms-of-abnormal-gabaergic-interneuronal-cortical-migration-associated-with-prenatal-ethanol-exposure
#5
REVIEW
Botros B Shenoda
GABAergic Interneuronal migration constitutes an essential process during corticogenesis. Derived from progenitor cells located in the proliferative zones of the ventral telencephalon, newly generated GABAergic Interneuron migrate to their cortical destinations. Cortical dysfunction associated with defects in neuronal migration results in severe developmental consequences. There is growing evidence linking prenatal ethanol exposure to abnormal GABAergic interneuronal migration and subsequent cortical dysfunction...
February 3, 2017: Neurochemical Research
https://www.readbyqxmd.com/read/28123074/abnormal-neurogenesis-and-cortical-growth-in-congenital-heart-disease
#6
Paul D Morton, Ludmila Korotcova, Bobbi K Lewis, Shivaprasad Bhuvanendran, Shruti D Ramachandra, David Zurakowski, Jiangyang Zhang, Susumu Mori, Joseph A Frank, Richard A Jonas, Vittorio Gallo, Nobuyuki Ishibashi
Long-term neurological deficits due to immature cortical development are emerging as a major challenge in congenital heart disease (CHD). However, cellular mechanisms underlying dysregulation of perinatal corticogenesis in CHD remain elusive. The subventricular zone (SVZ) represents the largest postnatal niche of neural stem/progenitor cells (NSPCs). We show that the piglet SVZ resembles its human counterpart and displays robust postnatal neurogenesis. We present evidence that SVZ NSPCs migrate to the frontal cortex and differentiate into interneurons in a region-specific manner...
January 25, 2017: Science Translational Medicine
https://www.readbyqxmd.com/read/28063930/systematic-time-dependent-visualization-and-quantitation-of-the-neurogenic-rate-in-brain-organoids
#7
Yoichi Kosodo, Taeko Suetsugu, Tetsuya J Kobayashi, Fumio Matsuzaki
Organoids mimicking the formation of the brain cortex have been demonstrated to be powerful tools for developmental studies as well as pathological investigations of brain malformations. Here, we report an integrated approach for the quantification of temporal neural production (neurogenic rate) in organoids derived from embryonic brains. Spherical tissue fragments with polarized cytoarchitectures were incubated in multiple cavities arranged in a polymethylmethacrylate chip. The time-dependent neurogenic rate in the organoids was monitored by the level of EGFP under the promoter of Tbr2, a transcription factor that is transiently expressed in neural fate-committed progenitors during corticogenesis...
January 29, 2017: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/28041895/induction-of-expansion-and-folding-in-human-cerebral-organoids
#8
Yun Li, Julien Muffat, Attya Omer, Irene Bosch, Madeline A Lancaster, Mriganka Sur, Lee Gehrke, Juergen A Knoblich, Rudolf Jaenisch
An expansion of the cerebral neocortex is thought to be the foundation for the unique intellectual abilities of humans. It has been suggested that an increase in the proliferative potential of neural progenitors (NPs) underlies the expansion of the cortex and its convoluted appearance. Here we show that increasing NP proliferation induces expansion and folding in an in vitro model of human corticogenesis. Deletion of PTEN stimulates proliferation and generates significantly larger and substantially folded cerebral organoids...
March 2, 2017: Cell Stem Cell
https://www.readbyqxmd.com/read/27912755/establishment-of-high-reciprocal-connectivity-between-clonal-cortical-neurons-is-regulated-by-the-dnmt3b-dna-methyltransferase-and-clustered-protocadherins
#9
Etsuko Tarusawa, Makoto Sanbo, Atsushi Okayama, Toshio Miyashita, Takashi Kitsukawa, Teruyoshi Hirayama, Takahiro Hirabayashi, Sonoko Hasegawa, Ryosuke Kaneko, Shunsuke Toyoda, Toshihiro Kobayashi, Megumi Kato-Itoh, Hiromitsu Nakauchi, Masumi Hirabayashi, Takeshi Yagi, Yumiko Yoshimura
BACKGROUND: The specificity of synaptic connections is fundamental for proper neural circuit function. Specific neuronal connections that underlie information processing in the sensory cortex are initially established without sensory experiences to a considerable extent, and then the connections are individually refined through sensory experiences. Excitatory neurons arising from the same single progenitor cell are preferentially connected in the postnatal cortex, suggesting that cell lineage contributes to the initial wiring of neurons...
December 2, 2016: BMC Biology
https://www.readbyqxmd.com/read/27911741/neural-stem-cells-to-cerebral-cortex-emerging-mechanisms-regulating-progenitor-behavior-and-productivity
#10
Noelle D Dwyer, Bin Chen, Shen-Ju Chou, Simon Hippenmeyer, Laurent Nguyen, H Troy Ghashghaei
This review accompanies a 2016 SFN mini-symposium presenting examples of current studies that address a central question: How do neural stem cells (NSCs) divide in different ways to produce heterogeneous daughter types at the right time and in proper numbers to build a cerebral cortex with the appropriate size and structure? We will focus on four aspects of corticogenesis: cytokinesis events that follow apical mitoses of NSCs; coordinating abscission with delamination from the apical membrane; timing of neurogenesis and its indirect regulation through emergence of intermediate progenitors; and capacity of single NSCs to generate the correct number and laminar fate of cortical neurons...
November 9, 2016: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/27900345/new-insight-into-lsd1-function-in-human-cortical-neurogenesis
#11
Kazumi Hirano, Masakazu Namihira
The cerebral cortex of primates has evolved massively and intricately in comparison to that of other species. Accumulating evidence indicates that this is caused by changes in cell biological features of neural stem cells (NSCs), which differentiate into neurons and glial cells during development. The fate of NSCs during rodent cortical development is stringently regulated by epigenetic factors, such as histone modification enzymes, but the role of these factors in human corticogenesis is largely unknown. We have recently discovered that a lysine-specific demethylase 1 (LSD1), which catalyzes the demethylation of methyl groups in the histone tail, plays a unique role in human fetal NSCs (hfNSCs)...
2016: Neurogenesis (Austin, Tex.)
https://www.readbyqxmd.com/read/27858201/semaphorin3a-neuropilin1-signalling-is-involved-in-the-generation-of-cortical-interneurons
#12
William D Andrews, Melissa Barber, Marion Nemitz, Fani Memi, John G Parnavelas
Cortical interneurons are generated predominantly in the medial ganglionic eminence of the ventral telencephalon and migrate to the cortex during embryonic development. These cells express neuropilin (Nrp1 and Nrp2) receptors which mediate their response to the chemorepulsive class 3 semaphorin (Sema) ligands. We show here that semaphorins Sema3A and Sema3F are expressed in layers adjacent to cortical interneuron migratory streams as well as in the striatum, suggesting they may have a role in guiding these cells throughout their journey...
November 17, 2016: Brain Structure & Function
https://www.readbyqxmd.com/read/27803648/reelin-and-neuropsychiatric-disorders
#13
REVIEW
Kazuhiro Ishii, Ken-Ichiro Kubo, Kazunori Nakajima
Proper neuronal migration and laminar formation during corticogenesis is essential for normal brain function. Disruption of these developmental processes is thought to be involved in the pathogenesis of some neuropsychiatric conditions. Especially, Reelin, a glycoprotein mainly secreted by the Cajal-Retzius cells and a subpopulation of GABAergic interneurons, has been shown to play a critical role, both during embryonic and postnatal periods. Indeed, animal studies have clearly revealed that Reelin is an essential molecule for proper migration of cortical neurons and finally regulates the cell positioning in the cortex during embryonic and early postnatal stages; by contrast, Reelin signaling is closely involved in synaptic function in adulthood...
2016: Frontiers in Cellular Neuroscience
https://www.readbyqxmd.com/read/27799303/different-doublecortin-dcx-patient-alleles-show-distinct-phenotypes-in-cultured-neurons-evidence-for-divergent-loss-of-function-and-off-pathway-cellular-mechanisms
#14
Chan Choo Yap, Laura Digilio, Lloyd McMahon, Matylda Roszkowska, Christopher J Bott, Kamil Kruczek, Bettina Winckler
Doublecortin on the X-chromosome (DCX) is a neuronal microtubule-binding protein with a multitude of roles in neurodevelopment. In humans, DCX is a major genetic locus for X-linked lissencephaly. The best studied defects are in neuronal migration during corticogenesis and in the hippocampus, as well as axon and dendrite growth defects. Much effort has been directed at understanding the molecular and cellular bases of DCX-linked lissencephaly. The focus has been in particular on defects in microtubule assembly and bundling, using knock-out mice and expression of WT and mutant Dcx in non-neuronal cells...
December 23, 2016: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/27787898/role-of-a-heterotrimeric-g-protein-gi2-in-the-corticogenesis-possible-involvement-in-periventricular-nodular-heterotopia-and-intellectual-disability
#15
Nanako Hamada, Yutaka Negishi, Makoto Mizuno, Fuyuki Miya, Ayako Hattori, Nobuhiko Okamoto, Mitsuhiro Kato, Tatsuhiko Tsunoda, Mami Yamasaki, Yonehiro Kanemura, Kenjiro Kosaki, Hidenori Tabata, Shinji Saitoh, Koh-Ichi Nagata
We analyzed the role of a heterotrimeric G-protein, Gi2, in the development of the cerebral cortex. Acute knockdown of the α-subunit (Gαi2) with in utero electroporation caused delayed radial migration of excitatory neurons during corticogenesis, perhaps because of impaired morphology. The migration phenotype was rescued by an RNAi-resistant version of Gαi2. On the other hand, silencing of Gαi2 did not affect axon elongation, dendritic arbor formation or neurogenesis at ventricular zone in vivo. When behavior analyses were conducted with acute Gαi2-knockdown mice, they showed defects in social interaction, novelty recognition and active avoidance learning as well as increased anxiety...
January 2017: Journal of Neurochemistry
https://www.readbyqxmd.com/read/27760116/chromosome-conformation-elucidates-regulatory-relationships-in-developing-human-brain
#16
Hyejung Won, Luis de la Torre-Ubieta, Jason L Stein, Neelroop N Parikshak, Jerry Huang, Carli K Opland, Michael J Gandal, Gavin J Sutton, Farhad Hormozdiari, Daning Lu, Changhoon Lee, Eleazar Eskin, Irina Voineagu, Jason Ernst, Daniel H Geschwind
Three-dimensional physical interactions within chromosomes dynamically regulate gene expression in a tissue-specific manner. However, the 3D organization of chromosomes during human brain development and its role in regulating gene networks dysregulated in neurodevelopmental disorders, such as autism or schizophrenia, are unknown. Here we generate high-resolution 3D maps of chromatin contacts during human corticogenesis, permitting large-scale annotation of previously uncharacterized regulatory relationships relevant to the evolution of human cognition and disease...
October 27, 2016: Nature
https://www.readbyqxmd.com/read/27743462/generation-of-improved-human-cerebral-organoids-from-single-copy-dyrk1a-knockout-induced-pluripotent-stem-cells-in-trisomy-21-hypothetical-solutions-for-neurodevelopmental-models-and-therapeutic-alternatives-in-down-syndrome
#17
E Sacide Çağlayan
Dual-specificity thyrosine phosphorylation-regulated kinase 1A (DYRK1A) is a strong therapeutic target to ameliorate cognitive functions of Down Syndrome (DS). Genetic normalization of Dyrk1a is sufficient to normalize early cortical developmental phenotypes in DS mouse models. Gyrencephalic human neocortical development is more complex than that in lissencephalic mice; hence, cerebral organoids (COs) can be used to model early neurodevelopmental defects of DS. Single copy DYRK1A knockout COs (scDYRK1AKO-COs) can be generated from manipulated DS derived (DS-) induced pluripotent stem cells (iPSCs) and genetic normalization of DYRK1A is expected to result in corrected neurodevelopmental phenotypes that can be reminiscent of normal COs...
December 2016: Cell Biology International
https://www.readbyqxmd.com/read/27683913/putative-cell-adhesion-membrane-protein-vstm5-regulates-neuronal-morphology-and-migration-in-the-central-nervous-system
#18
A-Ram Lee, Kwang Woo Ko, Hojae Lee, Yi-Seul Yoon, Mi-Ryoung Song, Chul-Seung Park
UNLABELLED: During brain development, dynamic changes in neuronal membranes perform critical roles in neuronal morphogenesis and migration to create functional neural circuits. Among the proteins that induce membrane dynamics, cell adhesion molecules are important in neuronal membrane plasticity. Here, we report that V-set and transmembrane domain-containing protein 5 (Vstm5), a cell-adhesion-like molecule belonging to the Ig superfamily, was found in mouse brain. Knock-down of Vstm5 in cultured hippocampal neurons markedly reduced the complexity of dendritic structures, as well as the number of dendritic filopodia...
September 28, 2016: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/27670918/control-of-cortex-development-by-ulk4-a-rare-risk-gene-for-mental-disorders-including-schizophrenia
#19
Bing Lang, Lei Zhang, Guanyu Jiang, Ling Hu, Wei Lan, Lei Zhao, Irene Hunter, Michal Pruski, Ning-Ning Song, Ying Huang, Ling Zhang, David St Clair, Colin D McCaig, Yu-Qiang Ding
Schizophrenia is a debilitating familial neuropsychiatric disorder which affects 1% of people worldwide. Although the heritability for schizophrenia approaches 80% only a small proportion of the overall genetic risk has been accounted for, and to date only a limited number of genetic loci have been definitively implicated. We have identified recently through genetic and in vitro functional studies, a novel serine/threonine kinase gene, unc-51-like kinase 4 (ULK4), as a rare risk factor for major mental disorders including schizophrenia...
September 27, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27670206/malformations-of-cortical-development-from-postnatal-to-fetal-imaging
#20
REVIEW
Tally Lerman-Sagie, Zvi Leibovitz
Abnormal fetal corticogenesis results in malformations of cortical development (MCD). Abnormal cell proliferation leads to microcephaly or megalencephaly, incomplete neuronal migration results in heterotopia and lissencephaly, neuronal overmigration manifests as cobblestone malformations, and anomalous postmigrational cortical organization is responsible for polymicrogyria and focal cortical dysplasias. MCD comprises various congenital brain disorders, caused by different genetic, infectious, or vascular etiologies and is associated with significant neurological morbidity...
September 2016: Canadian Journal of Neurological Sciences. le Journal Canadien des Sciences Neurologiques
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