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Down's syndrome cell adhesion molecule

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https://www.readbyqxmd.com/read/29196216/a-third-copy-of-the-down-syndrome-cell-adhesion-molecule-dscam-causes-synaptic-and-locomotor-dysfunction-in-drosophila
#1
Simon A Lowe, James J L Hodge, Maria M Usowicz
Down syndrome (DS) is caused by triplication of chromosome 21 (HSA21). It is characterised by intellectual disability and impaired motor coordination that arise from changes in brain volume, structure and function. However, the contribution of each HSA21 gene to these various phenotypes and to the causal alterations in neuronal and synaptic structure and function are largely unknown. Here we have investigated the effect of overexpression of the HSA21 gene DSCAM (Down syndrome cell adhesion molecule), on glutamatergic synaptic transmission and motor coordination, using Drosophila expressing three copies of Dscam1...
November 28, 2017: Neurobiology of Disease
https://www.readbyqxmd.com/read/29114259/identification-of-splicing-quantitative-trait-loci-sqtl-in-drosophila-melanogaster-with-developmental-lead-pb-2-exposure
#2
Wen Qu, Katherine Gurdziel, Roger Pique-Regi, Douglas M Ruden
Lead (Pb) poisoning has been a major public health issue globally and the recent Flint water crisis has drawn nation-wide attention to its effects. To better understand how lead plays a role as a neurotoxin, we utilized the Drosophila melanogaster model to study the genetic effects of lead exposure during development and identified lead-responsive genes. In our previous studies, we have successfully identified hundreds of lead-responsive expression QTLs (eQTLs) by using RNA-seq analysis on heads collected from the Drosophila Synthetic Population Resource...
2017: Frontiers in Genetics
https://www.readbyqxmd.com/read/29114051/dscam-mediated-control-of-dendritic-and-axonal-arbor-outgrowth-enforces-tiling-and-inhibits-synaptic-plasticity
#3
Aaron B Simmons, Samuel J Bloomsburg, Joshua M Sukeena, Calvin J Miller, Yohaniz Ortega-Burgos, Bart G Borghuis, Peter G Fuerst
Mature mammalian neurons have a limited ability to extend neurites and make new synaptic connections, but the mechanisms that inhibit such plasticity remain poorly understood. Here, we report that OFF-type retinal bipolar cells in mice are an exception to this rule, as they form new anatomical connections within their tiled dendritic fields well after retinal maturity. The Down syndrome cell-adhesion molecule (Dscam) confines these anatomical rearrangements within the normal tiled fields, as conditional deletion of the gene permits extension of dendrite and axon arbors beyond these borders...
November 21, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/29078722/local-translation-of-the-down-syndrome-cell-adhesion-molecule-dscam-mrna-in-the-vertebrate-central-nervous-system
#4
María Luz Montesinos
Local translation of synaptic mRNAs is an important process related to key aspects of central nervous system development and physiology, including dendritogenesis, axonal growth cone morphology and guidance and synaptic plasticity. Accordingly, local translation is compromised in several intellectual disabilities, including Fragile X syndrome, tuberous sclerosis and Down syndrome. Down Syndrome Cell Adhesion Molecule (DSCAM) is a gene with ascribed functions in neuronal wiring that belongs to the Down Syndrome Critical Region (DSCR) of chromosome 21...
October 27, 2017: Journal of Neurogenetics
https://www.readbyqxmd.com/read/29050935/the-l1-adhesion-molecule-normalizes-neuritogenesis-in-rett-syndrome-derived-neural-precursor-cells
#5
Myungsik Yoo, Cassiano Carromeu, Ohyoon Kwon, Alysson Muotri, Melitta Schachner
Therapeutic intervention is an important need in ameliorating the severe consequences of Rett Syndrome (RTT), a neurological disorder caused by mutations in the X-linked gene methyl-CpG-binding protein-2 (MeCP2). Following previously observed morphological defects in induced pluripotent stem cell (iPSC)-derived neurons obtained from female RTT patients, we hypothesized that transfection with the L1 cell adhesion molecule (L1) could contribute to normalizing a pathological male cell system bearing a nonsense mutation of MeCP2...
October 16, 2017: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/29042325/characterize-a-typically-dscam-with-alternative-splicing-in-mud-crab-scylla-paramamosain
#6
Wenshi Li, Xixiang Tang, Yan Chen, Wanwei Sun, Yan Liu, Yi Gong, Xiaobo Wen, Shengkang Li
As a member of the immunoglobulin superfamily, Down syndrome cell adhesion molecule (Dscam) could function in the innate immunity of invertebrates. Recently, it is shown that arthropod Dscams play similar functions as antibodies in the adaptive immune system. Dscam could produce thousands of isoforms by alternative splicing and specifically bind to various pathogens. In the present study, we cloned the first Dscam from mud crab Scylla paramamosain (SpDscam), with full-length cDNA 7363 bp containing an open reading frame (ORF) of 6069bp and encoding 2022 amino acids, which had typical domain architecture as other arthropods, i...
October 16, 2017: Fish & Shellfish Immunology
https://www.readbyqxmd.com/read/28809040/a-mobile-app-for-sharing-contacts-on-your-cell-an-editorial-highlight-for-the-physiological-role-of-the-amyloid-precursor-protein-as-an-adhesion-molecule-in-the-developing-nervous-system-on-page-11
#7
EDITORIAL
George William Rebeck, Daniel T S Pak
The Review highlighted in this Editorial followed a CAEN Return Home Grant.
October 2017: Journal of Neurochemistry
https://www.readbyqxmd.com/read/28715807/amniotic-fluid-angiogenic-and-inflammatory-factor-profiling-in-foetal-down-syndrome
#8
Monika Zbucka-Kretowska, Karol Charkiewicz, Jan Czerniecki, Joanna Goscik, Slawomir Wolczynski, Piotr Laudanski
OBJECTIVES: Angiogenic factors are proteins that can potentially be related to certain foetal chromosomal abnormalities. The goal of this study was to determine the concentrations of 60 angiogenic factors in the amniotic fluid of women carrying foetuses with Down syndrome (DS). METHODS: After analysis of the karyotyping results, for the purpose of this study, we chose 12 women with foetal DS. For the control group, we selected 12 healthy patients with uncomplicated pregnancies (15-18 weeks of gestation) who delivered healthy newborns at term...
July 15, 2017: Fetal Diagnosis and Therapy
https://www.readbyqxmd.com/read/28677143/the-physiological-role-of-the-amyloid-precursor-protein-as-an-adhesion-molecule-in-the-developing-nervous-system
#9
REVIEW
Lucas J Sosa, Alfredo Cáceres, Sebastián Dupraz, Mariana Oksdath, Santiago Quiroga, Alfredo Lorenzo
The amyloid precursor protein (APP) is a type I transmembrane glycoprotein better known for its participation in the physiopathology of Alzheimer disease as the source of the beta amyloid fragment. However, the physiological functions of the full length protein and its proteolytic fragments have remained elusive. APP was first described as a cell-surface receptor; nevertheless, increasing evidence highlighted APP as a cell adhesion molecule. In this review, we will focus on the current knowledge of the physiological role of APP as a cell adhesion molecule and its involvement in key events of neuronal development, such as migration, neurite outgrowth, growth cone pathfinding, and synaptogenesis...
October 2017: Journal of Neurochemistry
https://www.readbyqxmd.com/read/28649249/dscam1-in-pancrustacean-immunity-current-status-and-a-look-to-the-future
#10
Sophie A O Armitage, Joachim Kurtz, Daniela Brites, Yuemei Dong, Louis Du Pasquier, Han-Ching Wang
The Down syndrome cell adhesion molecule 1 (Dscam1) gene is an extraordinary example of diversity: by combining alternatively spliced exons, thousands of isoforms can be produced from just one gene. So far, such diversity in this gene has only been found in insects and crustaceans, and its essential part in neural wiring has been well-characterized for Drosophila melanogaster. Ten years ago evidence from D. melanogaster showed that the Dscam1 gene is involved in insect immune defense and work on Anopheles gambiae indicated that it is a hypervariable immune receptor...
2017: Frontiers in Immunology
https://www.readbyqxmd.com/read/28621421/roles-of-dscam-in-axonal-decussation-and-fasciculation-of-chick-spinal-interneurons
#11
Oksana Cohen, Lilach Vald, Masahito Yamagata, Joshua R Sanes, Avihu Klar
The ventral midline of the embryonic neural tube, the floor plate, has a profound role in guiding axons during embryonic development. Floor plate-derived guidance cues attract or repel axons, depending on the neuronal subtype and developmental stage. Netrin-1 and its receptor, Deleted in Colon Carcinoma (DCC), are the key constituents of commissurral axons guidance cues toward the floor plate. Recent studies have implicated Down Syndrome Cell Adhesion Molecule (Dscam) as an additional Netrin-1 receptor. In this study, we examined the role of Dscam in guiding defined spinal dorsal interneuron populations...
2017: International Journal of Developmental Biology
https://www.readbyqxmd.com/read/28513774/hippocampal-overexpression-of-down-syndrome-cell-adhesion-molecule-in-amyloid-precursor-protein-transgenic-mice
#12
Y L Jia, Z X Fu, B H Zhang, Y J Jia
Down syndrome cell adhesion molecule (DSCAM) is located within the Down syndrome critical region of chromosome 21. DSCAM is a broadly expressed neurodevelopmental protein involved in synaptogenesis, neurite outgrowth, and axon guidance. We previously demonstrated DSCAM overexpression in the cortex of amyloid precursor protein (APP) transgenic mice, suggesting possible regulatory interactions between APP and DSCAM. APP mice exhibit deficits in hippocampus-dependent learning and memory. In this preliminary study, we examined age-related changes in DSCAM expression within the hippocampus in 16 APP transgenic mice (1, 3, 6 and 12 months old)...
May 15, 2017: Brazilian Journal of Medical and Biological Research, Revista Brasileira de Pesquisas Médicas e Biológicas
https://www.readbyqxmd.com/read/28374408/morphological-alterations-in-the-hippocampus-of-the-ts65dn-mouse-model-for-down-syndrome-correlate-with-structural-plasticity-markers
#13
Olga Villarroya, Raúl Ballestín, Rosa López-Hidalgo, Maria Mulet, José Miguel Blasco-Ibáñez, Carlos Crespo, Juan Nacher, Javier Gilabert-Juan, Emilio Varea
Down syndrome (DS) is the most common chromosomal aneuploidy. Although trisomy on chromosome 21 can display variable phenotypes, there is a common feature among all DS individuals: the presence of intellectual disability. This condition is partially attributed to abnormalities found in the hippocampus of individuals with DS and in the murine model for DS, Ts65Dn. To check if all hippocampal areas were equally affected in 4-5 month adult Ts65Dn mice, we analysed the morphology of dentate gyrus granule cells and cornu ammonis pyramidal neurons using Sholl method on Golgi-Cox impregnated neurons...
April 4, 2017: Histology and Histopathology
https://www.readbyqxmd.com/read/28137836/dscam-promotes-axon-fasciculation-and-growth-in-the-developing-optic-pathway
#14
Freyja M Bruce, Samantha Brown, Jonathan N Smith, Peter G Fuerst, Lynda Erskine
Although many aspects of optic pathway development are beginning to be understood, the mechanisms promoting the growth of retinal ganglion cell (RGC) axons toward visual targets remain largely unknown. Down syndrome cell adhesion molecule (Dscam) is expressed by mouse RGCs shortly after they differentiate at embryonic day 12 and is essential for multiple aspects of postnatal visual system development. Here we show that Dscam is also required during embryonic development for the fasciculation and growth of RGC axons...
February 14, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/27917840/protein-production-crystallization-and-preliminary-crystallographic-analysis-of-the-four-n-terminal-immunoglobulin-domains-of-down-syndrome-cell-adhesion-molecule-1-corrigendum
#15
Linna Cheng, Shu Ang Li, Jia Huai Wang, Yamei Yu, Qiang Chen
An extra author is added to the article by Chen et al. [(2015), Acta Cryst. F71, 775-778].
December 1, 2016: Acta Crystallographica. Section F, Structural Biology Communications
https://www.readbyqxmd.com/read/27588071/co-expression-network-analysis-of-down-s-syndrome-based-on-microarray-data
#16
Jianping Zhao, Zhengguo Zhang, Shumin Ren, Yanan Zong, Xiangdong Kong
Down's syndrome (DS) is a type of chromosome disease. The present study aimed to explore the underlying molecular mechanisms of DS. GSE5390 microarray data downloaded from the gene expression omnibus database was used to identify differentially expressed genes (DEGs) in DS. Pathway enrichment analysis of the DEGs was performed, followed by co-expression network construction. Significant differential modules were mined by mutual information, followed by functional analysis. The accuracy of sample classification for the significant differential modules of DEGs was evaluated by leave-one-out cross-validation...
September 2016: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/27386517/structural-basis-of-dscam1-homodimerization-insights-into-context-constraint-for-protein-recognition
#17
Shu-Ang Li, Linna Cheng, Yamei Yu, Qiang Chen
The Drosophila neural receptor Dscam1 (Down syndrome cell adhesion molecule 1) plays an essential role in neuronal wiring and self-avoidance. Dscam1 potentially encodes 19,008 ectodomains through alternative RNA splicing and exhibits exquisite isoform-specific homophilic binding, which makes it an exceptional example for studying protein binding specificity. However, structural information on Dscam1 is limited, which hinders illumination of the mechanism of Dscam1 isoform-specific recognition. Whether different Dscam1 isoforms adopt the same dimerization mode remains a subject of debate...
May 2016: Science Advances
https://www.readbyqxmd.com/read/27277800/%C3%AE-1-c121w-is-down-but-not-out-epilepsy-associated-scn1b-c121w-results-in-a-deleterious-gain-of-function
#18
Larisa C Kruger, Heather A O'Malley, Jacob M Hull, Amanda Kleeman, Gustavo A Patino, Lori L Isom
UNLABELLED: Voltage-gated sodium channel (VGSC) β subunits signal through multiple pathways on multiple time scales. In addition to modulating sodium and potassium currents, β subunits play nonconducting roles as cell adhesion molecules, which allow them to function in cell-cell communication, neuronal migration, neurite outgrowth, neuronal pathfinding, and axonal fasciculation. Mutations in SCN1B, encoding VGSC β1 and β1B, are associated with epilepsy. Autosomal-dominant SCN1B-C121W, the first epilepsy-associated VGSC mutation identified, results in genetic epilepsy with febrile seizures plus (GEFS+)...
June 8, 2016: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/27218821/differential-expression-of-extracellular-matrix-and-adhesion-molecules-in-fetal-origin-amniotic-epithelial-cells-of-preeclamptic-pregnancy
#19
Myung-Sun Kim, Ji Hea Yu, Min-Young Lee, Ah Leum Kim, Mi Hyun Jo, MinGi Kim, Sung-Rae Cho, Young-Han Kim
Preeclampsia is a common disease that can occur during human pregnancy and is a leading cause of both maternal and neonatal morbidity and mortality. Inadequate trophoblast invasion and deficient remodeling of uterine spiral arteries are associated with preeclampsia (PE). The development of this syndrome is thought to be related to multiple factors. Recently, we isolated patient-specific human amniotic epithelial cells (AECs) from the placentas of 3 women with normal pregnancy and 3 with preeclamptic pregnancy...
2016: PloS One
https://www.readbyqxmd.com/read/27163287/morphogenetic-studies-of-the-drosophila-da1-ventral-olfactory-projection-neuron
#20
Hung-Chang Shen, Jia-Yi Wei, Sao-Yu Chu, Pei-Chi Chung, Tsai-Chi Hsu, Hung-Hsiang Yu
In the Drosophila olfactory system, odorant information is sensed by olfactory sensory neurons and relayed from the primary olfactory center, the antennal lobe (AL), to higher olfactory centers via olfactory projection neurons (PNs). A major portion of the AL is constituted with dendrites of four groups of PNs, anterodorsal PNs (adPNs), lateral PNs (lPNs), lateroventral PNs (lvPNs) and ventral PNs (vPNs). Previous studies have been focused on the development and function of adPNs and lPNs, while the investigation on those of lvPNs and vPNs received less attention...
2016: PloS One
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