Using Xenopus to discover new candidate genes involved in BOR and other congenital hearing loss syndromes DOI Creative Commons
Scott J. Neal,

A. Rajasekaran,

Nisveta Jusić

et al.

Journal of Experimental Zoology Part B Molecular and Developmental Evolution, Journal Year: 2023, Volume and Issue: 342(3), P. 212 - 240

Published: Oct. 13, 2023

Abstract Hearing in infants is essential for brain development, acquisition of verbal language skills, and development social interactions. Therefore, it important to diagnose hearing loss soon after birth so that interventions can be provided as early possible. Most newborns the United States are screened deficits commercially available next‐generation sequencing panels often identify causative gene, which may also congenital defects other organs. One most prevalent autosomal dominant syndromes branchio‐oto‐renal syndrome (BOR), presents with craniofacial structures kidney. Currently, mutations three genes, SIX1, SIX5 , EYA1 known about half BOR patients have been tested. To uncover new candidate genes could added genetic screens, we combined power Drosophila mutants protein biochemical assays embryological advantages Xenopus a key aquatic animal model high level genomic similarity human, potential Six1 transcriptional targets interacting proteins play role during otic development. We review our transcriptomic, yeast 2‐hybrid, proteomic approaches revealed large number candidates. discuss how begun co‐factors interact direct developmental events necessary normal

Language: Английский

The Gene Ontology knowledgebase in 2023 DOI Creative Commons
Suzi Aleksander, James P. Balhoff, Seth Carbon

et al.

Genetics, Journal Year: 2023, Volume and Issue: 224(1)

Published: March 3, 2023

Abstract The Gene Ontology (GO) knowledgebase (http://geneontology.org) is a comprehensive resource concerning the functions of genes and gene products (proteins noncoding RNAs). GO annotations cover from organisms across tree life as well viruses, though most function knowledge currently derives experiments carried out in relatively small number model organisms. Here, we provide an updated overview knowledgebase, efforts broad, international consortium scientists that develops, maintains, updates knowledgebase. consists three components: (1) GO—a computational structure describing functional characteristics genes; (2) annotations—evidence-supported statements asserting specific product has particular characteristic; (3) Causal Activity Models (GO-CAMs)—mechanistic models molecular “pathways” (GO biological processes) created by linking multiple using defined relations. Each these components continually expanded, revised, response to newly published discoveries receives extensive QA checks, reviews, user feedback. For each components, description current contents, recent developments keep up date with new discoveries, guidance on how users can best make use data provide. We conclude future directions for project.

Language: Английский

Citations

1285

Harmonizing model organism data in the Alliance of Genome Resources DOI Creative Commons

Julie Agapite,

Laurent‐Philippe Albou, Suzi Aleksander

et al.

Genetics, Journal Year: 2022, Volume and Issue: 220(4)

Published: Feb. 25, 2022

The Alliance of Genome Resources (the Alliance) is a combined effort 7 knowledgebase projects: Saccharomyces Database, WormBase, FlyBase, Mouse the Zebrafish Information Network, Rat and Gene Ontology Resource. seeks to provide several benefits: better service various communities served by these projects; harmonized view data for all biomedical researchers, bioinformaticians, clinicians, students; more sustainable infrastructure. has cross-organism useful comparative views gene function, expression, human disease relevance. basis shared calls orthology relationships use common ontologies. key types are alleles variants, function based on ontology annotations, phenotypes, association disease, protein-protein genetic interactions, participation in pathways. information presented uniform pages that allow facile summarization about each organisms covered (budding yeast, roundworm Caenorhabditis elegans, fruit fly, house mouse, zebrafish, brown rat, human). knowledge freely available alliancegenome.org portal, as downloadable files, APIs. We expect other existing emerging bases join union features base currently provides.

Language: Английский

Citations

84

Xenbase: key features and resources of the Xenopus model organism knowledgebase DOI Creative Commons
Malcolm E Fisher, Christina James‐Zorn, Virgilio G. Ponferrada

et al.

Genetics, Journal Year: 2023, Volume and Issue: 224(1)

Published: Feb. 9, 2023

Abstract Xenbase (https://www.xenbase.org/), the Xenopus model organism knowledgebase, is a web-accessible resource that integrates diverse genomic and biological data from research on laboratory frogs laevis tropicalis. The goal of to accelerate discovery empower research, enhance impact data, facilitate dissemination these data. also enhances value through high-quality curation, integration, providing bioinformatics tools optimized for experiments, linking human other organisms. plays an indispensable role in making interoperable accessible broader biomedical community accordance with FAIR principles. provides annotated updates organizations such as NCBI, UniProtKB, Ensembl, Gene Ontology consortium, most recently, Alliance Genomic Resources, common clearing house humans This article brief overview key recently added features Xenbase. New include processing high-throughput sequencing NCBI Expression Omnibus; curation anatomical, physiological, expression phenotypes newly created Phenotype Ontology; annotations; new anatomical drawings Normal Table development; integration latest v10.1 genome annotations. Finally, we highlight areas future development at continue support community.

Language: Английский

Citations

61

Mouse Genome Informatics: an integrated knowledgebase system for the laboratory mouse DOI Creative Commons
Richard M. Baldarelli, Cynthia L. Smith, Martin Ringwald

et al.

Genetics, Journal Year: 2024, Volume and Issue: 227(1)

Published: March 26, 2024

Abstract Mouse Genome Informatics (MGI) is a federation of expertly curated information resources designed to support experimental and computational investigations into genetic genomic aspects human biology disease using the laboratory mouse as model system. The Database (MGD) Gene Expression (GXD) are core MGI databases that share data system architecture. serves central community resource integrated about genome features, variation, expression, gene function, phenotype, models acquired from peer-reviewed publications, author submissions, major bioinformatics resources. To facilitate integration standardization data, biocuration scientists annotate terms controlled metadata vocabularies biological ontologies (e.g. Mammalian Phenotype Ontology, Developmental Anatomy, Disease etc.), by applying international standards for gene, allele, strain nomenclature. basic scientists, translational researchers, providing access FAIR-compliant in both human-readable compute-ready formats. accessible at https://informatics.jax.org. Here, we present an overview types represented highlight recent enhancements with focus on new functionality MGD GXD.

Language: Английский

Citations

53

Evidence for widespread cytoplasmic structuring into mesoscale condensates DOI
Felix C. Keber, Thao Nguyen, Andrea Mariossi

et al.

Nature Cell Biology, Journal Year: 2024, Volume and Issue: 26(3), P. 346 - 352

Published: Feb. 29, 2024

Language: Английский

Citations

33

The mouse Gene Expression Database (GXD): 2021 update DOI Creative Commons
Richard M. Baldarelli, Constance M. Smith,

Jacqueline H. Finger

et al.

Nucleic Acids Research, Journal Year: 2020, Volume and Issue: 49(D1), P. D924 - D931

Published: Oct. 3, 2020

Abstract The Gene Expression Database (GXD; www.informatics.jax.org/expression.shtml) is an extensive and well-curated community resource of mouse developmental gene expression information. For many years, GXD has collected integrated data from RNA in situ hybridization, immunohistochemistry, RT-PCR, northern blot, western blot experiments through curation the scientific literature by collaborations with large-scale projects. Since our last report 2019, we have continued to acquire these classical types data; developed a searchable index RNA-Seq microarray that allows users quickly reliably find specific studies ArrayExpress (https://www.ebi.ac.uk/arrayexpress/) GEO (https://www.ncbi.nlm.nih.gov/geo/); expanded include data. Uniformly processed are imported EBI Atlas then other GXD, genetic, functional, phenotypic disease-related information Mouse Genome Informatics (MGI). This integration made accessible via GXD’s enhanced searching filtering capabilities. Further, embedded Morpheus heat map utility into user interface provide additional tools for display analysis data, including visualization, sorting, filtering, hierarchical clustering, nearest neighbors visual enrichment.

Language: Английский

Citations

129

Echinobase: leveraging an extant model organism database to build a knowledgebase supporting research on the genomics and biology of echinoderms DOI Creative Commons

Bradley I. Arshinoff,

Gregory A. Cary, Kamran Karimi

et al.

Nucleic Acids Research, Journal Year: 2021, Volume and Issue: 50(D1), P. D970 - D979

Published: Oct. 13, 2021

Echinobase (www.echinobase.org) is a third generation web resource supporting genomic research on echinoderms. The new version was built by cloning the mature Xenopus model organism knowledgebase, Xenbase, refactoring data ingestion pipelines and modifying user interface to adapt multispecies echinoderm content. This approach leveraged over 15 years of previous database application development generate fully featured informatics in single year. In addition software stack, uses private cloud physical hosts that support Xenbase. currently supports six species, focused those used for genomics, developmental biology gene regulatory network analyses. Over 38 000 pages, 18 publications, improved genome assemblies, JBrowse browser BLAST + services are available supported anatomical ontology, uniformly applied formal nomenclature, consistent orthology predictions. A novel feature integrating multiple, disparate species. New genomes from diverse phylum will be added as becomes available. common code design integrated knowledgebases ensures parallel improvements each evolves. widely applicable developing resources.

Language: Английский

Citations

68

Fourth Report on Chicken Genes and Chromosomes 2022 DOI Creative Commons
Jacqueline Smith, James M. Alfieri,

Nick Anthony

et al.

Cytogenetic and Genome Research, Journal Year: 2022, Volume and Issue: 162(8-9), P. 405 - 528

Published: Jan. 1, 2022

none

Language: Английский

Citations

27

Differential nuclear import sets the timing of protein access to the embryonic genome DOI Creative Commons
Thao Nguyen, Eli J. Costa,

Tim Deibert

et al.

Nature Communications, Journal Year: 2022, Volume and Issue: 13(1)

Published: Oct. 6, 2022

Abstract The development of a fertilized egg to an embryo requires the proper temporal control gene expression. During cell differentiation, timing is often controlled via cascades transcription factors (TFs). However, in early development, inactive, and many TF levels stay constant, suggesting that alternative mechanisms govern observed rapid ordered onset Here, we find embryonic access maternally deposited nuclear proteins genome temporally importin affinities, thereby expression downstream targets. We quantify changes proteome during proteins, such as TFs RNA polymerases, enter nucleus sequentially. Moreover, proteins’ corresponds activation. show affinity major determinant protein entry into nuclei. Thus, propose mechanism by which embryos encode biochemical affinities. This process could be critical for organize themselves before deploying regulatory identities.

Language: Английский

Citations

20

A single-cell, time-resolved profiling of Xenopus mucociliary epithelium reveals nonhierarchical model of development DOI Creative Commons
Julie Lee, Andreas Møller, Shinhyeok Chae

et al.

Science Advances, Journal Year: 2023, Volume and Issue: 9(14)

Published: April 7, 2023

The specialized cell types of the mucociliary epithelium (MCE) lining respiratory tract enable continuous airway clearing, with its defects leading to chronic diseases. molecular mechanisms driving fate acquisition and temporal specialization during epithelial development remain largely unknown. Here, we profile developing Xenopus MCE from pluripotent mature stages by single-cell transcriptomics, identifying multipotent early progenitors that execute multilineage cues before specializing into late-stage ionocytes goblet basal cells. Combining in silico lineage inference, situ hybridization, multiplexed RNA imaging, capture initial bifurcation multiciliated chart type emergence progression types. Comparative analysis nine atlases reveals an evolutionary conserved transcriptional module ciliated cells, whereas secretory distinct function-specific programs across vertebrates. We uncover a nonhierarchical model alongside data resource for understanding biology.

Language: Английский

Citations

12