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Frédérique J Liégeois, Michael S Hildebrand, Alexandra Bonthrone, Samantha J Turner, Ingrid E Scheffer, Melanie Bahlo, Alan Connelly, Angela T Morgan
FOXP2 is the major gene associated with severe, persistent, developmental speech and language disorders. While studies in the original family in which a FOXP2 mutation was found showed volume reduction and reduced activation in core language and speech networks, there have been no imaging studies of different FOXP2 mutations. We conducted a multimodal MRI study in an eight-year-old boy (A-II) with a de novo FOXP2 intragenic deletion. A-II showed marked bilateral volume reductions in the hippocampus, thalamus, globus pallidus, and caudate nucleus compared with 26 control males (effect sizes from -1 to -3)...
October 13, 2016: Scientific Reports
Balachandar Radhakrishnan, A Alwin Prem Anand
MicroRNAs (miRNAs) are a class of small regulatory RNAs involved in gene regulation. The regulation is effected by either translational inhibition or transcriptional silencing. In vertebrates, the importance of miRNA in development was discovered from mice and zebrafish dicer knockouts. The miRNA-9 (miR-9) is one of the most highly expressed miRNAs in the early and adult vertebrate brain. It has diverse functions within the developing vertebrate brain. In this article, the role of miR-9 in the developing forebrain (telencephalon and diencephalon), midbrain, hindbrain, and spinal cord of vertebrate species is highlighted...
2016: Journal of Experimental Neuroscience
Yi-Chuan Chen, Hsiao-Ying Kuo, Ulrich Bornschein, Hiroshi Takahashi, Shih-Yun Chen, Kuan-Ming Lu, Hao-Yu Yang, Gui-May Chen, Jing-Ruei Lin, Yi-Hsin Lee, Yun-Chia Chou, Sin-Jhong Cheng, Cheng-Ting Chien, Wolfgang Enard, Wulf Hevers, Svante Pääbo, Ann M Graybiel, Fu-Chin Liu
Cortico-basal ganglia circuits are critical for speech and language and are implicated in autism spectrum disorder, in which language function can be severely affected. We demonstrate that in the mouse striatum, the gene Foxp2 negatively interacts with the synapse suppressor gene Mef2c. We present causal evidence that Mef2c inhibition by Foxp2 in neonatal mouse striatum controls synaptogenesis of corticostriatal inputs and vocalization in neonates. Mef2c suppresses corticostriatal synapse formation and striatal spinogenesis, but can itself be repressed by Foxp2 through direct DNA binding...
September 5, 2016: Nature Neuroscience
Miriam S Reuter, Angelika Riess, Ute Moog, Tracy A Briggs, Kate E Chandler, Anita Rauch, Miriam Stampfer, Katharina Steindl, Dieter Gläser, Pascal Joset, Mandy Krumbiegel, Harald Rabe, Uta Schulte-Mattler, Peter Bauer, Stefanie Beck-Wödl, Jürgen Kohlhase, André Reis, Christiane Zweier
BACKGROUND: Disruptions of the FOXP2 gene, encoding a forkhead transcription factor, are the first known monogenic cause of a speech and language disorder. So far, mainly chromosomal rearrangements such as translocations or larger deletions affecting FOXP2 have been reported. Intragenic deletions or convincingly pathogenic point mutations in FOXP2 have up to date only been reported in three families. We thus aimed at a further characterisation of the mutational and clinical spectrum. METHODS: Chromosomal microarray testing, trio exome sequencing, multigene panel sequencing and targeted sequencing of FOXP2 were performed in individuals with variable developmental disorders, and speech and language deficits...
August 29, 2016: Journal of Medical Genetics
Nissrine Ballout, Isabelle Frappé, Sophie Péron, Mohamed Jaber, Kazem Zibara, Afsaneh Gaillard
Injury to the human central nervous system can lead to devastating consequences due to its poor ability to self-repair. Neural transplantation aimed at replacing lost neurons and restore functional circuitry has proven to be a promising therapeutical avenue. We previously reported in adult rodent animal models with cortical lesions that grafted fetal cortical neurons could effectively re-establish specific patterns of projections and synapses. The current study was designed to provide a detailed characterization of the spatio-temporal in vivo development of fetal cortical transplanted cells within the lesioned adult motor cortex and their corresponding axonal projections...
2016: Frontiers in Neural Circuits
Irene López-González, Andre Palmeira, Ester Aso, Margarita Carmona, Liana Fernandez, Isidro Ferrer
FOXP2 is altered in a variety of language disorders. We found reduced mRNA and protein expression of FOXP2 in frontal cortex area 8 in Pick's disease, and frontotemporal lobar degeneration-tau linked to P301L mutation presenting with language impairment in comparison with age-matched controls and cases with parkinsonian variant progressive supranuclear palsy. Foxp2 mRNA and protein are also reduced with disease progression in the somatosensory cortex in transgenic mice bearing the P301S mutation in MAPT when compared with wild-type littermates...
September 6, 2016: Journal of Alzheimer's Disease: JAD
Nana Fujiwara, John W Cave
The mammalian main olfactory bulb (OB) has a large population of GABAergic inhibitory interneurons that contains several subtypes defined by the co-expression other neurotransmitters and calcium binding proteins. The three most commonly studied OB interneuron subtypes co-express either Calretinin, Calbindin, or Tyrosine hydroxylase (Th). Combinations of transcription factors used to specify the phenotype of progenitors are referred to as transcription factor codes, and the current understanding of transcription factor codes that specify OB inhibitory neuron phenotypes are largely based on studies in mice...
2016: Frontiers in Neuroscience
Haruka Ebisu, Lena Iwai-Takekoshi, Eriko Fujita-Jimbo, Takashi Momoi, Hiroshi Kawasaki
The molecular mechanisms underlying the formation of the thalamus during development have been investigated intensively. Although transcription factors distinguishing the thalamic primordium from adjacent brain structures have been uncovered, those involved in patterning inside the thalamus are largely unclear. Here, we show that Foxp2, a member of the forkhead transcription factor family, regulates thalamic patterning during development. We found a graded expression pattern of Foxp2 in the thalamic primordium of the mouse embryo...
July 6, 2016: Cerebral Cortex
Wen-Zhuo Jia, Tao Yu, Qi An, Hua Yang, Zhu Zhang, Xiao Liu, Gang Xiao
OBJECTIVE: To investigate how microRNA-190 (miR-190) regulates FOXP2 genes in gastric cancer (GC) cell line SGC7901. METHODS: We identified that miR-190 could target FOXP2 genes by using dual luciferase enzyme assay. Precursor fragment transfection of miR-190 was performed with GC cell line SGC7901 and human gastric mucosal cell line GES-1. miR-190 expression was detected by reverse transcription-polymerase chain reaction (RT-PCR) and FOXP2 protein expression was measured by Western blotting...
2016: OncoTargets and Therapy
Young Jae Woo, Tao Wang, Tulio Guadalupe, Rebecca A Nebel, Arianna Vino, Victor A Del Bene, Sophie Molholm, Lars A Ross, Marcel P Zwiers, Simon E Fisher, John J Foxe, Brett S Abrahams
Copy number variants (CNVs) at the Breakpoint 1 to Breakpoint 2 region at 15q11.2 (BP1-2) are associated with language-related difficulties and increased risk for developmental disorders in which language is compromised. Towards underlying mechanisms, we investigated relationships between single nucleotide polymorphisms (SNPs) across the region and quantitative measures of human brain structure obtained by magnetic resonance imaging of healthy subjects. We report an association between rs4778298, a common variant at CYFIP1, and inter-individual variation in surface area across the left supramarginal gyrus (lh...
2016: PloS One
Benjamin G Cuiffo, Antoine E Karnoub
In a recent article in Cell Stem Cell, we showed that mesenchymal stem cells (MSCs), progenitor cells that populate the breast tumor stroma, induce microRNA-mediated FOXP2 repression in breast cancer cells (BCCs), thus promoting cancer stem cell (CSC) and metastatic traits. Here, we discuss the implications of these findings for understanding metastatic CSC genesis.
May 2016: Molecular & Cellular Oncology
Kah Keng Wong, Duncan M Gascoyne, Elizabeth J Soilleux, Linden Lyne, Hayley Spearman, Giovanna Roncador, Lars M Pedersen, Michael B Møller, Tina M Green, Alison H Banham
FOXP2 shares partially overlapping normal tissue expression and functionality with FOXP1; an established diffuse large B-cell lymphoma (DLBCL) oncogene and marker of poor prognosis. FOXP2 is expressed in the plasma cell malignancy multiple myeloma but has not been studied in DLBCL, where a poor prognosis activated B-cell (ABC)-like subtype display partially blocked plasma cell differentiation. FOXP2 protein expression was detected in ABC-DLBCL cell lines, and in primary DLBCL samples tumoral FOXP2 protein expression was detected in both germinal center B-cell-like (GCB) and non-GCB DLBCL...
May 20, 2016: Oncotarget
Renato Polimanti, Rosanna Squitti, Marilena Pantaleo, Sabrina Giglio, Giancarlo Zito
No abstract text is available yet for this article.
May 24, 2016: Minerva Pediatrica
David L Rousso, Mu Qiao, Ruth D Kagan, Masahito Yamagata, Richard D Palmiter, Joshua R Sanes
Visual information is conveyed to the brain by axons of >30 retinal ganglion cell (RGC) types. Characterization of these types is a prerequisite to understanding visual perception. Here, we identify a family of RGCs that we call F-RGCs on the basis of expression of the transcription factor Foxp2. Intersectional expression of Foxp1 and Brn3 transcription factors divides F-RGCs into four types, comprising two pairs, each composed of closely related cells. One pair, F-mini(ON) and F-mini(OFF), shows robust direction selectivity...
May 31, 2016: Cell Reports
Xiaowei Song, Yezhong Tang, Yajun Wang
The vertebrate FoxP subfamily genes play important roles in the construction of essential functional modules involved in physiological and developmental processes. To explore the adaptive evolution of functional modules associated with the FoxP subfamily member genes, it is necessary to study the gene duplication process. We detected four member genes of the FoxP subfamily in sea lampreys (a representative species of jawless vertebrates) through genome screenings and phylogenetic analyses. Reliable paralogons (i...
August 22, 2016: Gene
Alba Vicario, Ezequiel Mendoza, Antonio Abellán, Constance Scharff, Loreta Medina
We used a battery of genes encoding transcription factors (Pax6, Islet1, Nkx2.1, Lhx6, Lhx5, Lhx9, FoxP2) and neuropeptides to study the extended amygdala in developing zebra finches. We identified different components of the central extended amygdala comparable to those found in mice and chickens, including the intercalated amygdalar cells, the central amygdala, and the lateral bed nucleus of the stria terminalis. Many cells likely originate in the dorsal striatal domain, ventral striatal domain, or the pallidal domain, as is the case in mice and chickens...
May 9, 2016: Brain Structure & Function
Emily Zimmerman, Monika Maki, Jill Maron
The objective of the study is to determine whether salivary FOXP2 gene expression levels at the initiation of oral feeding attempts are predictive of oral feeding success in the premature newborn. In this prospective study, saliva samples from 21 premature infants (13 males; birth gestational age [GA]: 30-34 wk) were collected around the initiation of oral feeding trials. Total RNA was extracted and underwent reverse transcription-quantitative polymerase chain reaction amplification for FOXP2. Oral feeding success was denoted by the days required to attain full oral feeds...
January 2016: Cold Spring Harbor Molecular Case Studies
Emily Zimmerman, Jill L Maron
Forkhead box protein P2 (FOXP2) is a well-studied gene known to play an essential role in normal speech development. Deletions in the gene have been shown to result in developmental speech disorders and regulatory disruption of downstream gene targets associated with common forms of language impairments. Despite similarities in motor planning and execution between speech development and oral feeding competence, there have been no reports to date linking deletions within the FOXP2 gene to oral feeding impairments in the newborn...
January 2016: Cold Spring Harbor Molecular Case Studies
Beate Peter, Ellen M Wijsman, Alejandro Q Nato, Mark M Matsushita, Kathy L Chapman, Ian B Stanaway, John Wolff, Kaori Oda, Virginia B Gabo, Wendy H Raskind
Childhood apraxia of speech (CAS) is a severe and socially debilitating form of speech sound disorder with suspected genetic involvement, but the genetic etiology is not yet well understood. Very few known or putative causal genes have been identified to date, e.g., FOXP2 and BCL11A. Building a knowledge base of the genetic etiology of CAS will make it possible to identify infants at genetic risk and motivate the development of effective very early intervention programs. We investigated the genetic etiology of CAS in two large multigenerational families with familial CAS...
2016: PloS One
Iris Adam, Ezequiel Mendoza, Ursula Kobalz, Sandra Wohlgemuth, Constance Scharff
Mutations of the transcription factor FOXP2 cause a severe speech and language disorder. In songbirds, FoxP2 is expressed in the medium spiny neurons (MSNs) of the avian basal ganglia song nucleus, Area X, which is crucial for song learning and adult song performance. Experimental downregulation of FoxP2 in Area X affects spine formation, prevents neuronal plasticity induced by social context and impairs song learning. Direct target genes of FoxP2 relevant for song learning and song production are unknown. Here we show that a lentivirally mediated FoxP2 knockdown in Area X of zebra finches downregulates the expression of VLDLR, one of the two reelin receptors...
July 2016: Molecular and Cellular Neurosciences
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