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https://www.readbyqxmd.com/read/28442991/a-novel-long-non-coding-rna-durga-modulates-dendrite-density-and-expression-of-kalirin-in-zebrafish
#1
Mayuresh A Sarangdhar, Divya Chaubey, Abhishek Bhatt, Monisha Km, Manish Kumar, Shashi Ranjan, Beena Pillai
Kalirin, a key player in axonal development, nerve growth and synaptic re-modeling, is implicated in many pathological conditions like schizophrenia and autism-spectrum disorders. Alternative promoters and splicing lead to functionally distinct isoforms, but the post-transcriptional regulation of Kalirin has not been studied. Here, we report a novel non-coding RNA, which we name durga, arising from the first exon of kalirin a (kalrna) in the antisense orientation in zebrafish. The kalrna and durga transcripts are barely detectable during early development, but steadily increase by 24 hours post-fertilization (hpf) as the brain develops...
2017: Frontiers in Molecular Neuroscience
https://www.readbyqxmd.com/read/28414966/modeling-sleep-and-neuropsychiatric-disorders-in-zebrafish
#2
REVIEW
Talia Levitas-Djerbi, Lior Appelbaum
What are the molecular and cellular mechanisms that link neurological disorders and sleep disturbances? The transparent zebrafish model could bridge this gap in knowledge due to its unique genetic and imaging toolbox, and amenability to high-throughput screening. Sleep is well-characterized in zebrafish and key regulators of the sleep/wake cycle are conserved, including melatonin and hypocretin/orexin (Hcrt), whereas novel sleep regulating proteins are continually being identified, such as Kcnh4a, Neuromedin U, and QRFP...
April 14, 2017: Current Opinion in Neurobiology
https://www.readbyqxmd.com/read/28365779/personalized-genome-sequencing-coupled-with-ipsc-technology-identifies-gtdc1-as-a-gene-involved-in-neurodevelopmental-disorders
#3
Irene Aksoy, Kagistia H Utami, Cecilia L Winata, Axel M Hillmer, Sigrid L Rouam, Sylvain Briault, Sonia Davila, Lawrence W Stanton, Valere Cacheux
The cellular and molecular mechanisms underlying neurodevelopmental conditions such as autism spectrum disorders have been studied intensively for decades. The ability to generate patient-specific induced pluripotent stem cells (iPSCs) now offers a novel strategy for modelling human diseases. Recent studies have reported the derivation of iPSCs from patients with neurological disorders. The key challenge remains the demonstration of disease-related phenotypes and the ability to model the disease. Here we report a case study with signs of neurodevelopmental disorders (NDDs) harbouring chromosomal rearrangements that were sequenced using long-insert DNA paired-end tag (DNA-PET) sequencing approach...
January 15, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28359144/mind-bomb-binding-partner-ranbp9-plays-a-contributory-role-in-retinal-development
#4
Kyeong-Won Yoo, Maivannan Thiruvarangan, Yun-Mi Jeong, Mi-Sun Lee, Sateesh Maddirevula, Myungchull Rhee, Young-Ki Bae, Hyung-Goo Kim, Cheol-Hee Kim
Ran-binding protein family member, RanBP9 has been reported in various basic cellular mechanisms and neuropathological conditions including schizophrenia. Previous studies have reported that RanBP9 is highly expressed in the mammalian brain and retina; however, the role of RanBP9 in retinal development is largely unknown. Here, we present the novel and regulatory roles of RanBP9 in retinal development of a vertebrate animal model, zebrafish. Zebrafish embryos exhibited abundant expression of ranbp9 in developing brain tissues as well as in the developing retina...
March 28, 2017: Molecules and Cells
https://www.readbyqxmd.com/read/28251519/non-human-primate-models-for-brain-disorders-towards-genetic-manipulations-via-innovative-technology
#5
REVIEW
Zilong Qiu, Xiao Li
Modeling brain disorders has always been one of the key tasks in neurobiological studies. A wide range of organisms including worms, fruit flies, zebrafish, and rodents have been used for modeling brain disorders. However, whether complicated neurological and psychiatric symptoms can be faithfully mimicked in animals is still debatable. In this review, we discuss key findings using non-human primates to address the neural mechanisms underlying stress and anxiety behaviors, as well as technical advances for establishing genetically-engineered non-human primate models of autism spectrum disorders and other disorders...
April 2017: Neuroscience Bulletin
https://www.readbyqxmd.com/read/28163161/zebrafish-models-of-autism-spectrum-disorder
#6
REVIEW
Daria A Meshalkina, Marina N Kizlyk, Elana V Kysil, Adam D Collier, David J Echevarria, Murilo S Abreu, Leonardo J G Barcellos, Cai Song, Jason E Warnick, Evan J Kyzar, Allan V Kalueff
Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder characterized by motor, social and cognitive deficits that develop early during childhood. The pathogenesis of ASD is not well characterized and involves a multifaceted interaction between genetic, neurobiological and environmental factors. Animal (experimental) models possess evolutionarily conserved behaviors and molecular pathways that are highly relevant for studying ASD. The zebrafish (Danio rerio) is a relatively new animal model with promise for understanding the pathogenesis of complex brain disorders and discovering novel treatments...
February 3, 2017: Experimental Neurology
https://www.readbyqxmd.com/read/27802373/innate-color-preference-of-zebrafish-and-its-use-in-behavioral-analyses
#7
Jong-Su Park, Jae-Ho Ryu, Tae-Ik Choi, Young-Ki Bae, Suman Lee, Hae Jin Kang, Cheol-Hee Kim
Although innate color preference of motile organisms may provide clues to behavioral biases, it has remained a longstanding question. In this study, we investigated innate color preference of zebrafish larvae. A cross maze with different color sleeves around each arm was used for the color preference test (R; red, G; green, B; blue, Y; yellow). The findings showed that 5 dpf zebrafish larvae preferred blue over other colors (B > R > G > Y). To study innate color recognition further, tyrosinase mutants were generated using CRISPR/Cas9 system...
October 2016: Molecules and Cells
https://www.readbyqxmd.com/read/27785454/zebrafish-embryos-as-in-vivo-test-tubes-to-unravel-cell-specific-mechanisms-of-neurogenesis-during-neurodevelopment-and-in-diseases
#8
Éric Samarut
Zebrafish has become a model of choice for developmental studies in particular for studying neural development and related mechanisms involved in diseases. Indeed, zebrafish provides a fast, handy and accurate model to perform functional genomics on a gene or network of genes of interest. Recently, we successfully purified neural stem cells (NSCs) by fluorescence-activated cell sorting (FACS) from whole embryos in order to analyze cell-specific transcriptomic effects by RNA sequencing. As a result, our work sheds light on signaling pathways that are more likely to be involved in our morpholino-induced neurogenesis phenotype...
2016: Neurogenesis (Austin, Tex.)
https://www.readbyqxmd.com/read/27677466/gain-of-function-defects-of-astrocytic-kir4-1-channels-in-children-with-autism-spectrum-disorders-and-epilepsy
#9
Federico Sicca, Elena Ambrosini, Maria Marchese, Luigi Sforna, Ilenio Servettini, Giulia Valvo, Maria Stefania Brignone, Angela Lanciotti, Francesca Moro, Alessandro Grottesi, Luigi Catacuzzeno, Sara Baldini, Sonia Hasan, Maria Cristina D'Adamo, Fabio Franciolini, Paola Molinari, Filippo M Santorelli, Mauro Pessia
Dysfunction of the inwardly-rectifying potassium channels Kir4.1 (KCNJ10) represents a pathogenic mechanism contributing to Autism-Epilepsy comorbidity. To define the role of Kir4.1 variants in the disorder, we sequenced KCNJ10 in a sample of affected individuals, and performed genotype-phenotype correlations. The effects of mutations on channel activity, protein trafficking, and astrocyte function were investigated in Xenopus laevis oocytes, and in human astrocytoma cell lines. An in vivo model of the disorder was also explored through generation of kcnj10a morphant zebrafish overexpressing the mutated human KCNJ10...
September 28, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27573365/maternal-exposure-to-the-water-soluble-fraction-of-crude-oil-lead-and-their-mixture-induces-autism-like-behavioral-deficits-in-zebrafish-danio-rerio-larvae
#10
Yuanchuan Wang, Hongxiu Zhong, Chonggang Wang, Dongxu Gao, Yulin Zhou, Zhenghong Zuo
Autism spectrum disorder (ASD) is a serious debilitating mental illness with complex symptoms and multi-factorial pathogenesis. Although the pathogenesis of ASD remains unclear, etiology is thought to involve complex, multigenic interactions and possible environmental contributions. In the present study, we used zebrafish (Danio rerio) as a model to investigate whether maternal exposure to the water soluble fraction of crude oil (WSF, 5μg/L), lead (Pb, 20μg/L) and their mixture (5 μg/L WSF+20 μg/L Pb) could induce autism-like behavior in larvae...
August 26, 2016: Ecotoxicology and Environmental Safety
https://www.readbyqxmd.com/read/27562614/developmental-profiling-of-asd-related-shank3-transcripts-and-their-differential-regulation-by-valproic-acid-in-zebrafish
#11
Chun-Xue Liu, Xiao-Lan Peng, Chun-Chun Hu, Chun-Yang Li, Qiang Li, Xiu Xu
SHANK3 is a scaffolding protein that binds to various synaptic proteins at the postsynaptic density (PSD) of excitatory glutamatergic synapses. SHANK3 is not only strongly implicated in autism spectrum disorders (ASD) but also plays a critical role in human Phelan-McDermid syndrome (22q13.3 deletion syndrome). Accumulated experimental evidence demonstrates that the zebrafish model system is useful for studying the functions of ASD-related gene during early development. However, many basic features of shank3 transcript expression in zebrafish remain poorly understood...
November 2016: Development Genes and Evolution
https://www.readbyqxmd.com/read/27458342/function-over-form-modeling-groups-of-inherited-neurological-conditions-in-zebrafish
#12
REVIEW
Robert A Kozol, Alexander J Abrams, David M James, Elena Buglo, Qing Yan, Julia E Dallman
Zebrafish are a unique cell to behavior model for studying the basic biology of human inherited neurological conditions. Conserved vertebrate genetics and optical transparency provide in vivo access to the developing nervous system as well as high-throughput approaches for drug screens. Here we review zebrafish modeling for two broad groups of inherited conditions that each share genetic and molecular pathways and overlap phenotypically: neurodevelopmental disorders such as Autism Spectrum Disorders (ASD), Intellectual Disability (ID) and Schizophrenia (SCZ), and neurodegenerative diseases, such as Cerebellar Ataxia (CATX), Hereditary Spastic Paraplegia (HSP) and Charcot-Marie Tooth Disease (CMT)...
2016: Frontiers in Molecular Neuroscience
https://www.readbyqxmd.com/read/27247142/oxytocin-reversed-mk-801-induced-social-interaction-and-aggression-deficits-in-zebrafish
#13
Fernanda Francine Zimmermann, Karina Vidarte Gaspary, Anna Maria Siebel, Carla Denise Bonan
Changes in social behavior occur in several neuropsychiatric disorders such as schizophrenia and autism. The interaction between individuals is an essential aspect and an adaptive response of several species, among them the zebrafish. Oxytocin is a neuroendocrine hormone associated with social behavior. The aim of the present study was to investigate the effects of MK-801, a non-competitive antagonist of glutamate NMDA receptors, on social interaction and aggression in zebrafish. We also examined the modulation of those effects by oxytocin, the oxytocin receptor agonist carbetocin and the oxytocin receptor antagonist L-368,899...
September 15, 2016: Behavioural Brain Research
https://www.readbyqxmd.com/read/27189619/analysis-of-extracellular-nucleotide-metabolism-in-adult-zebrafish-after-embryological-exposure-to-valproic-acid
#14
Fernanda Francine Zimmermann, Karina Vidarte Gaspary, Anna Maria Siebel, Carlos Eduardo Leite, Luiza Wilges Kist, Mauricio Reis Bogo, Carla Denise Bonan
Autism is a neurodevelopmental disorder characterized by symptoms related to stereotyped movements, deficits in social interaction, impaired communication, anxiety, hyperactivity, and the presence of restricted interests. Evidence indicates an important role of extracellular ATP and adenosine as signaling molecules in autism. ATP hydrolysis by ectonucleotidases is an important source of adenosine, and adenosine deaminase (ADA) contributes to the control of the nucleoside concentrations. Considering zebrafish is an animal model that may contribute towards to understanding the mechanisms that underlie social behavior, we investigated the purinergic signaling in a model of embryological exposure to valproic acid (VPA) that induces social interaction deficit in adult zebrafish...
May 17, 2016: Molecular Neurobiology
https://www.readbyqxmd.com/read/27106595/an-atypical-12q24-31-microdeletion-implicates-six-genes-including-a-histone-demethylase-kdm2b-and-a-histone-methyltransferase-setd1b-in-syndromic-intellectual-disability
#15
Jonathan D J Labonne, Kang-Han Lee, Shigeki Iwase, Il-Keun Kong, Michael P Diamond, Lawrence C Layman, Cheol-Hee Kim, Hyung-Goo Kim
Microdeletion syndromes are frequent causes of neuropsychiatric disorders leading to intellectual disability as well as autistic features accompanied by epilepsy and craniofacial anomalies. From comparative deletion mapping of the smallest microdeletion to date at 12q24.31, found in a patient with overlapping clinical features of 12q24.31 microdeletion syndrome, we narrowed the putative critical region to 445 kb containing seven genes, one microRNA, and one non-coding RNA. Zebrafish in situ hybridization and comprehensive transcript analysis of annotated genes in the panels of human organ and brain suggest that these are all candidates for neurological phenotypes excluding the gene HPD...
July 2016: Human Genetics
https://www.readbyqxmd.com/read/27087320/de-novo-mutations-of-rere-cause-a-genetic-syndrome-with-features-that-overlap-those-associated-with-proximal-1p36-deletions
#16
Brieana Fregeau, Bum Jun Kim, Andrés Hernández-García, Valerie K Jordan, Megan T Cho, Rhonda E Schnur, Kristin G Monaghan, Jane Juusola, Jill A Rosenfeld, Elizabeth Bhoj, Elaine H Zackai, Stephanie Sacharow, Kristin Barañano, Daniëlle G M Bosch, Bert B A de Vries, Kristin Lindstrom, Audrey Schroeder, Philip James, Peggy Kulch, Seema R Lalani, Mieke M van Haelst, Koen L I van Gassen, Ellen van Binsbergen, A James Barkovich, Daryl A Scott, Elliott H Sherr
Deletions of chromosome 1p36 affect approximately 1 in 5,000 newborns and are associated with developmental delay, intellectual disability, and defects involving the brain, eye, ear, heart, and kidney. Arginine-glutamic acid dipeptide repeats (RERE) is located in the proximal 1p36 critical region. RERE is a widely-expressed nuclear receptor coregulator that positively regulates retinoic acid signaling. Animal models suggest that RERE deficiency might contribute to many of the structural and developmental birth defects and medical problems seen in individuals with 1p36 deletion syndrome, although human evidence supporting this role has been lacking...
May 5, 2016: American Journal of Human Genetics
https://www.readbyqxmd.com/read/27008867/mutations-in-c8orf37-cause-bardet-biedl-syndrome-bbs21
#17
Elise Heon, Gunhee Kim, Sophie Qin, Janelle E Garrison, Erika Tavares, Ajoy Vincent, Nina Nuangchamnong, C Anthony Scott, Diane C Slusarski, Val C Sheffield
Bardet Biedl syndrome (BBS) is a multisystem genetically heterogeneous ciliopathy that most commonly leads to obesity, photoreceptor degeneration, digit anomalies, genito-urinary abnormalities, as well as cognitive impairment with autism, among other features. Sequencing of a DNA sample from a 17-year-old female affected with BBS did not identify any mutation in the known BBS genes. Whole-genome sequencing identified a novel loss-of-function disease-causing homozygous mutation (K102*) in C8ORF37, a gene coding for a cilia protein...
June 1, 2016: Human Molecular Genetics
https://www.readbyqxmd.com/read/26889805/zebrafish-reel-in-phenotypic-suppressors-of-autism
#18
COMMENT
Jakob Biran, Gil Levkowitz
Chemical genetics can help decipher novel pathways underlying neurodevelopmental psychiatric impairments. Hoffman et al. (2016) utilized behavioral profiling of psychoactive compounds in zebrafish and identified estrogens as suppressors of a phenotype resulting from loss of an autism risk gene.
February 17, 2016: Neuron
https://www.readbyqxmd.com/read/26833658/potential-of-zebrafish-as-a-model-for-exploring-the-role-of-the-amygdala-in-emotional-memory-and-motivational-behavior
#19
REVIEW
Simon Perathoner, Maria Lorena Cordero-Maldonado, Alexander D Crawford
Emotion is a key aspect of behavior, enabling humans and animals to assign either positive or negative values to sensory inputs and thereby to make appropriate decisions. Classical experiments in mammalian models, mainly in primates and rodents, have shown that the amygdala is essential for appetitive and aversive associative processing and that dysfunction of this brain region leads to various psychiatric conditions, including depression, generalized anxiety disorder, panic disorder, phobias, autism, and posttraumatic stress disorder...
June 2016: Journal of Neuroscience Research
https://www.readbyqxmd.com/read/26833134/estrogens-suppress-a-behavioral-phenotype-in-zebrafish-mutants-of-the-autism-risk-gene-cntnap2
#20
Ellen J Hoffman, Katherine J Turner, Joseph M Fernandez, Daniel Cifuentes, Marcus Ghosh, Sundas Ijaz, Roshan A Jain, Fumi Kubo, Brent R Bill, Herwig Baier, Michael Granato, Michael J F Barresi, Stephen W Wilson, Jason Rihel, Matthew W State, Antonio J Giraldez
Autism spectrum disorders (ASDs) are a group of devastating neurodevelopmental syndromes that affect up to 1 in 68 children. Despite advances in the identification of ASD risk genes, the mechanisms underlying ASDs remain unknown. Homozygous loss-of-function mutations in Contactin Associated Protein-like 2 (CNTNAP2) are strongly linked to ASDs. Here we investigate the function of Cntnap2 and undertake pharmacological screens to identify phenotypic suppressors. We find that zebrafish cntnap2 mutants display GABAergic deficits, particularly in the forebrain, and sensitivity to drug-induced seizures...
February 17, 2016: Neuron
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