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CRISPR AND Zebrafish

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https://www.readbyqxmd.com/read/28625504/mutations-in-armc9-which-encodes-a-basal-body-protein-cause-joubert-syndrome-in-humans-and-ciliopathy-phenotypes-in-zebrafish
#1
Julie C Van De Weghe, Tamara D S Rusterholz, Brooke Latour, Megan E Grout, Kimberly A Aldinger, Ranad Shaheen, Jennifer C Dempsey, Sateesh Maddirevula, Yong-Han H Cheng, Ian G Phelps, Matthias Gesemann, Himanshu Goel, Ohad S Birk, Talal Alanzi, Rifaat Rawashdeh, Arif O Khan, Michael J Bamshad, Deborah A Nickerson, Stephan C F Neuhauss, William B Dobyns, Fowzan S Alkuraya, Ronald Roepman, Ruxandra Bachmann-Gagescu, Dan Doherty
Joubert syndrome (JS) is a recessive neurodevelopmental disorder characterized by hypotonia, ataxia, abnormal eye movements, and variable cognitive impairment. It is defined by a distinctive brain malformation known as the "molar tooth sign" on axial MRI. Subsets of affected individuals have malformations such as coloboma, polydactyly, and encephalocele, as well as progressive retinal dystrophy, fibrocystic kidney disease, and liver fibrosis. More than 35 genes have been associated with JS, but in a subset of families the genetic cause remains unknown...
June 14, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28623876/developmental-history-and-application-of-crispr-in-human-disease
#2
REVIEW
Puping Liang, Xiya Zhang, Yuxi Chen, Junjiu Huang
Genome editing tools are programmable artificial nucleases, mainly including zinc-finger nucleases (ZFNs), transcription activator-like effector nucleases (TALENs) and clustered regularly interspaced short palindromic repeat (CRISPR). By recognizing and cleaving specific DNA sequences, genome editing tools make it possible to generate site-specific DNA double-strand breaks (DSBs) in the genome. DSBs will then be repaired by either error-prone non-homologous end joining (NHEJ) or high-fidelity homologous recombination (HR) mechanisms...
June 17, 2017: Journal of Gene Medicine
https://www.readbyqxmd.com/read/28573077/crispr-cas-genome-surgery-in-ophthalmology
#3
REVIEW
James E DiCarlo, Jesse D Sengillo, Sally Justus, Thiago Cabral, Stephen H Tsang, Vinit B Mahajan
Genetic disease affecting vision can significantly impact patient quality of life. Gene therapy seeks to slow the progression of these diseases by treating the underlying etiology at the level of the genome. Clustered regularly interspaced short palindromic repeats (CRISPR) and CRISPR-associated systems (Cas) represent powerful tools for studying diseases through the creation of model organisms generated by targeted modification and by the correction of disease mutations for therapeutic purposes. CRISPR-Cas systems have been applied successfully to the visual sciences and study of ophthalmic disease - from the modification of zebrafish and mammalian models of eye development and disease, to the correction of pathogenic mutations in patient-derived stem cells...
May 2017: Translational Vision Science & Technology
https://www.readbyqxmd.com/read/28549975/knockdown-of-epigenetic-transcriptional-co-regulator-brd2a-disrupts-apoptosis-and-proper-formation-of-hindbrain-and-midbrain-hindbrain-boundary-mhb-region-in-zebrafish
#4
Tami Murphy, Heather Melville, Eliza Fradkin, Giana Bistany, Gregory Branigan, Kelly Olsen, Catharine R Comstock, Hayley Hanby, Ellie Garbade, Angela J DiBenedetto
Brd2 is a member of the bromodomain-extraterminal domain (BET) family of proteins and functions as an acetyl-histone-directed transcriptional co-regulator and recruitment scaffold in chromatin modification complexes affecting signal-dependent transcription. While Brd2 acts as a protooncogene in mammalian blood, developmental studies link it to regulation of neuronal apoptosis and epilepsy, and complete knockout of the gene is invariably embryonic lethal. In Drosophila, the Brd2 homolog acts as a maternal effect factor necessary for segment formation and identity and proper expression of homeotic loci, including Ultrabithorax and engrailed...
May 23, 2017: Mechanisms of Development
https://www.readbyqxmd.com/read/28534042/loss-of-the-habenula-intrinsic-neuromodulator-kisspeptin1-affects-learning-in-larval-zebrafish
#5
Charlotte Lupton, Mohini Sengupta, Ruey-Kuang Cheng, Joanne Chia, Vatsala Thirumalai, Suresh Jesuthasan
Learning how to actively avoid a predictable threat involves two steps: recognizing the cue that predicts upcoming punishment and learning a behavioral response that will lead to avoidance. In zebrafish, ventral habenula (vHb) neurons have been proposed to participate in both steps by encoding the expected aversiveness of a stimulus. vHb neurons increase their firing rate as expectation of punishment grows but reduce their activity as avoidance learning occurs. This leads to changes in the activity of raphe neurons, which are downstream of the vHb, during learning...
May 2017: ENeuro
https://www.readbyqxmd.com/read/28530678/the-complex-genetics-of-hypoplastic-left-heart-syndrome
#6
Xiaoqin Liu, Hisato Yagi, Shazina Saeed, Abha S Bais, George C Gabriel, Zhaohan Chen, Kevin A Peterson, You Li, Molly C Schwartz, William T Reynolds, Manush Saydmohammed, Brian Gibbs, Yijen Wu, William Devine, Bishwanath Chatterjee, Nikolai T Klena, Dennis Kostka, Karen L de Mesy Bentley, Madhavi K Ganapathiraju, Phillip Dexheimer, Linda Leatherbury, Omar Khalifa, Anchit Bhagat, Maliha Zahid, William Pu, Simon Watkins, Paul Grossfeld, Stephen A Murray, George A Porter, Michael Tsang, Lisa J Martin, D Woodrow Benson, Bruce J Aronow, Cecilia W Lo
Congenital heart disease (CHD) affects up to 1% of live births. Although a genetic etiology is indicated by an increased recurrence risk, sporadic occurrence suggests that CHD genetics is complex. Here, we show that hypoplastic left heart syndrome (HLHS), a severe CHD, is multigenic and genetically heterogeneous. Using mouse forward genetics, we report what is, to our knowledge, the first isolation of HLHS mutant mice and identification of genes causing HLHS. Mutations from seven HLHS mouse lines showed multigenic enrichment in ten human chromosome regions linked to HLHS...
May 22, 2017: Nature Genetics
https://www.readbyqxmd.com/read/28506994/gain-of-function-mutations-of-mau-draqp3a-influence-zebrafish-pigment-pattern-formation-through-the-tissue-environment
#7
Anastasia Eskova, Francois Chauvigné, Hans-Martin Maischein, Moritz Ammelburg, Joan Cerdà, Christiane Nüsslein-Volhard, Uwe Irion
The development of the pigmentation pattern in zebrafish is a tightly regulated process that depends on both the self-organizing properties of pigment cells and extrinsic cues from other tissues. Many of the known mutations that alter the pattern act cell autonomously in pigment cells, and our knowledge about external regulators is limited. Here, we describe several dominant missense mutations in Aquaporin 3a (Aqp3a/mau) that lead to broken stripes and short fins in zebrafish. A loss-of-function allele, generated by CRISPR-Cas9, has no phenotypic consequences, demonstrating that Aqp3a is dispensable for normal development...
May 15, 2017: Development
https://www.readbyqxmd.com/read/28478735/gene-therapy-of-adult-neuronal-ceroid-lipofuscinoses-with-crispr-cas9-in-zebrafish
#8
Xiaomin Yao, Xiaowei Liu, Yaguang Zhang, Yuhao Li, Chenjian Zhao, Shaohua Yao, Yuquan Wei
Adult-onset neuronal ceroid lipofuscinosis (ANCL), one of the neuronal ceroid lipofuscinosis (NCLs), is an inherited neurodegenerative disorder with progressive neuronal dysfunction. Recently, mutations in the DNAJC5 gene that encodes cysteine-string protein alpha (CSPα) have been reported to be associated with familial autosomal-dominant ANCL (AD-ANCL). This study constructed an ANCL transgenic zebrafish model expressing the human mutant DNAJC5 (mDNAJC5) gene under the control of a zebrafish neuron-specific promoter...
May 5, 2017: Human Gene Therapy
https://www.readbyqxmd.com/read/28467679/crispr-editing-in-biological-and-biomedical-investigation
#9
Han Zhang, Nami McCarty
The revolutionary technology for genome editing known as the clustered regularly interspaced short palindromic repeat (CRISPR)-CRISPR-associated protein 9 (Cas9) system has sparked advancements in biological and biomedical research. The scientific breakthrough of the development of CRISPR-Cas9 technology has allowed us to recapitulate human diseases by generating animal models of interest ranging from zebrafish to non-human primates. The CRISPR-Cas9 system can also be used to delineate the mechanisms underlying the development of human disorders and to precisely correct disease-causing mutations...
May 3, 2017: Journal of Cellular Biochemistry
https://www.readbyqxmd.com/read/28416245/a-simple-and-efficient-method-for-crispr-cas9-induced-mutant-screening
#10
Yufeng Hua, Chun Wang, Jian Huang, Kejian Wang
The clustered regularly interspaced short palindromic repeats (CRISPR)/CRISPR-associated protein 9 (Cas9) system provides a technological breakthrough in mutant generation. Several methods such as the polymerase chain reaction (PCR)/restriction enzyme (RE) assay, T7 endonuclease I (T7EI) assay, Surveyor nuclease assay, PAGE-based genotyping assay, and high-resolution melting (HRM) analysis-based assay have been developed for screening CRISPR/Cas9-induced mutants. However, these methods are time- and labour-intensive and may also be sequence-limited or require very expensive equipment...
April 20, 2017: Journal of Genetics and Genomics, Yi Chuan Xue Bao
https://www.readbyqxmd.com/read/28409342/zebrafish-as-a-model-of-kidney-disease
#11
Elvin E Morales, Rebecca A Wingert
Animal models have been an invaluable means to advance biomedical research as they provide experimental avenues for cellular and molecular investigations of disease pathology. The zebrafish (Danio rerio) is a good alternative to mammalian models that can be used to apply powerful genetic experimental methods normally used in invertebrates to answer questions about vertebrate development and disease. In the case of the kidney, the zebrafish has proven itself to be an applicable and versatile experimental system, mainly due to the simplicity of its pronephros, which contains two nephrons that possess conserved structural and physiological aspects with mammalian nephrons...
2017: Results and Problems in Cell Differentiation
https://www.readbyqxmd.com/read/28398638/a-functional-screening-of-the-kinome-identifies-the-polo-like-kinase-4-as-a-potential-therapeutic-target-for-malignant-rhabdoid-tumors-and-possibly-other-embryonal-tumors-of-the-brain
#12
Simone Treiger Sredni, Mario Suzuki, Jian-Ping Yang, Jacek Topczewski, Anders W Bailey, Tufan Gokirmak, Jeffrey N Gross, Alexandre de Andrade, Akihide Kondo, David R Piper, Tadanori Tomita
PURPOSE: Malignant rhabdoid tumors (MRTs) are deadly embryonal tumors of the infancy. With poor survival and modest response to available therapies, more effective and less toxic treatments are needed. We hypothesized that a systematic screening of the kinome will reveal kinases that drive rhabdoid tumors and can be targeted by specific inhibitors. METHODS: We individually mutated 160 kinases in a well-characterized rhabdoid tumor cell line (MON) using lentiviral clustered regularly interspaced short palindromic repeats (CRISPR)/CRISPR-associated protein 9 (Cas9)...
April 11, 2017: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/28398516/functional-analysis-of-nuclear-estrogen-receptors-ners-in-zebrafish-reproduction-by-genome-editing-approach
#13
Huijie Lu, Yong Cui, Liwen Jiang, Wei Ge
Estrogens signal through both nuclear and membrane receptors with most reported effects being mediated via the nuclear estrogen receptors (nERs). Although much work has been reported on nERs in the zebrafish, there is a lack of direct genetic evidence for their functional roles and importance in reproduction. To address this issue, we undertook this study to disrupt all three nERs in the zebrafish, namely esr1 (ERα), esr2a (ERβII) and esr2b (ERβI), by genome-editing technology CRISPR/Cas9. Using this loss-of-function genetic approach, we successfully created three mutant zebrafish lines with each nER knocked out...
April 10, 2017: Endocrinology
https://www.readbyqxmd.com/read/28390800/ca-2-release-via-two-pore-channel-type-2-tpc2-is-required-for-slow-muscle-cell-myofibrillogenesis-and-myotomal-patterning-in-intact-zebrafish-embryos
#14
Jeffrey J Kelu, Sarah E Webb, John Parrington, Antony Galione, Andrew L Miller
We recently demonstrated a critical role for two-pore channel type 2 (TPC2)-mediated Ca(2+) release during the differentiation of slow (skeletal) muscle cells (SMC) in intact zebrafish embryos, via the introduction of a translational-blocking morpholino antisense oligonucleotide (MO). Here, we extend our study and demonstrate that knockdown of TPC2 with a non-overlapping splice-blocking MO, knockout of TPC2 (via the generation of a tpcn2(dhkz1a) mutant line of zebrafish using CRISPR/Cas9 gene-editing), or the pharmacological inhibition of TPC2 action with bafilomycin A1 or trans-ned-19, also lead to a significant attenuation of SMC differentiation, characterized by a disruption of SMC myofibrillogenesis and gross morphological changes in the trunk musculature...
April 6, 2017: Developmental Biology
https://www.readbyqxmd.com/read/28364234/blocking-zebrafish-micrornas-with-morpholinos
#15
Alex Sutton Flynt, Mahesh Rao, James G Patton
Antisense morpholino oligonucleotides have been commonly used in zebrafish to inhibit mRNA function, either by inhibiting pre-mRNA splicing or by blocking translation initiation. Even with the advent of genome editing by CRISP/Cas9 technology, morpholinos provide a useful and rapid tool to knockdown gene expression. This is especially true when dealing with multiple alleles and large gene families where genetic redundancy can complicate knockout of all family members. miRNAs are small noncoding RNAs that are often encoded in gene families and can display extensive genetic redundancy...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/28350298/oncogenic-braf-disrupts-thyroid-morphogenesis-and-function-via-twist-expression
#16
Viviana Anelli, Jacques A Villefranc, Sagar Chhangawala, Raul Martinez-McFaline, Eleonora Riva, Anvy Nguyen, Akanksha Verma, Rohan Bareja, Zhengming Chen, Theresa Scognamiglio, Olivier Elemento, Yariv Houvras
Thyroid cancer is common, yet the sequence of alterations that promote tumor formation are incompletely understood. Here, we describe a novel model of thyroid carcinoma in zebrafish that reveals temporal changes due to BRAF(V600E). Through the use of real-time in vivo imaging, we observe disruption in thyroid follicle structure that occurs early in thyroid development. Combinatorial treatment using BRAF and MEK inhibitors reversed the developmental effects induced by BRAF(V600E). Adult zebrafish expressing BRAF(V600E) in thyrocytes developed invasive carcinoma...
March 28, 2017: ELife
https://www.readbyqxmd.com/read/28341548/cos2-kif7-and-osm-3-kif17-regulate-onset-of-outer-segment-development-in-zebrafish-photoreceptors-through-distinct-mechanisms
#17
Tylor R Lewis, Sean R Kundinger, Amira L Pavlovich, Jonathan R Bostrom, Brian A Link, Joseph C Besharse
Zebrafish morphants of osm-3/kif17, a kinesin-2 family member and intraflagellar transport motor, have photoreceptor outer segments that are dramatically reduced in number and size. However, two genetic mutant lines, osm-3/kif17(sa0119) and osm-3/kif17(sa18340), reportedly lack any observable morphological outer segment defects. In this work, we use TALENs to generate an independent allele, osm-3/kif17(mw405), and show that both osm-3/kif17(sa0119) and osm-3/kif17(mw405) have an outer segment developmental delay in both size and density that is fully recovered by 6 days post-fertilization...
March 22, 2017: Developmental Biology
https://www.readbyqxmd.com/read/28331970/disease-modeling-in-genetic-kidney-diseases-zebrafish
#18
REVIEW
Heiko Schenk, Janina Müller-Deile, Mark Kinast, Mario Schiffer
Growing numbers of translational genomics studies are based on the highly efficient and versatile zebrafish (Danio rerio) vertebrate model. The increasing types of zebrafish models have improved our understanding of inherited kidney diseases, since they not only display pathophysiological changes but also give us the opportunity to develop and test novel treatment options in a high-throughput manner. New paradigms in inherited kidney diseases have been developed on the basis of the distinct genome conservation of approximately 70 % between zebrafish and humans in terms of existing gene orthologs...
March 22, 2017: Cell and Tissue Research
https://www.readbyqxmd.com/read/28318500/mutations-in-tmem260-cause-a-pediatric-neurodevelopmental-cardiac-and-renal-syndrome
#19
Asaf Ta-Shma, Tahir N Khan, Asaf Vivante, Jason R Willer, Pavle Matak, Chaim Jalas, Ben Pode-Shakked, Yishay Salem, Yair Anikster, Friedhelm Hildebrandt, Nicholas Katsanis, Orly Elpeleg, Erica E Davis
Despite the accelerated discovery of genes associated with syndromic traits, the majority of families affected by such conditions remain undiagnosed. Here, we employed whole-exome sequencing in two unrelated consanguineous kindreds with central nervous system (CNS), cardiac, renal, and digit abnormalities. We identified homozygous truncating mutations in TMEM260, a locus predicted to encode numerous splice isoforms. Systematic expression analyses across tissues and developmental stages validated two such isoforms, which differ in the utilization of an internal exon...
April 6, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28300641/genome-editing-using-crispr-cas9-based-knock-in-approaches-in-zebrafish
#20
REVIEW
Shahad Albadri, Filippo Del Bene, Céline Revenu
With its variety of applications, the CRISPR/Cas9 genome editing technology has been rapidly evolving in the last few years. In the zebrafish community, knock-out reports are constantly increasing but insertion studies have been so far more challenging. With this review, we aim at giving an overview of the homologous directed repair (HDR)-based knock-in generation in zebrafish. We address the critical points and limitations of the procedure such as cutting efficiency of the chosen single guide RNA, use of cas9 mRNA or Cas9 protein, homology arm size etc...
March 11, 2017: Methods: a Companion to Methods in Enzymology
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