MPSBase: Comprehensive repository of differentially expressed genes for mucopolysaccharidoses.


Journal

Molecular genetics and metabolism
ISSN: 1096-7206
Titre abrégé: Mol Genet Metab
Pays: United States
ID NLM: 9805456

Informations de publication

Date de publication:
08 2021
Historique:
received: 03 02 2021
revised: 10 05 2021
accepted: 09 06 2021
pubmed: 21 6 2021
medline: 7 1 2022
entrez: 20 6 2021
Statut: ppublish

Résumé

Mucopolysaccharidoses (MPS) are lysosomal storage diseases (LSDs) caused by the deficiency of enzymes essential for the metabolism of extracellular matrix components called glycosaminoglycans (GAGs). To understand the physiopathology and alterations due to the lysosomal accumulation resulting from enzymatic deficiencies and their secondary outcomes can improve the diagnosis and treatment of rare genetic diseases. This work presents a database for differentially expressed genes from different public MPS data. We developed our database, including 13 studies previously deposited in the GEO (https://www.ncbi.nlm.nih.gov/geo/). The website is hosted in the UFRGS data processing center (CPD) and is available at <https://www.ufrgs.br/mpsbase/>. The site was constructed in PHP, and the analyses were performed in R. The organisms represented by the datasets are Canis lupus familiaris, Homo sapiens, Mus musculus, and Rattus norvegicus. The user can search for the differentially expressed genes and ontologies by species, MPS type, or tissue type. For each comparison, a heatmap with the 50 top differentially expressed genes is available as well as dot plots for the 30 top ontologies divided by biological process, cellular component, KEGG pathways, and molecular function. This data is also fully available in tables. There are 54 possible comparisons involving about 5000 to 10,000 genes each. This website is the only specific database for MPS with filtering and presenting their results in a one-click approach to the best of our knowledge. The development of such analytical and automated strategies accessible to health professionals is essential for fostering MPS research. The MPSBase is a web user-friendly, comprehensive repository of differentially expressed genes and ontologies regarding the MPS data.

Identifiants

pubmed: 34147352
pii: S1096-7192(21)00724-1
doi: 10.1016/j.ymgme.2021.06.004
pii:
doi:

Substances chimiques

Biomarkers 0

Types de publication

Journal Article Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

372-377

Informations de copyright

Copyright © 2021 Elsevier Inc. All rights reserved.

Déclaration de conflit d'intérêts

Declaration of Competing Interest The authors declare they have no competing interests.

Auteurs

Luís Dias Ferreira Soares (LDF)

Graduation Program on Biotechnology/Bioinformatics, UFRGS, Porto Alegre 91501-970, Brazil; Cells, Tissues and Genes Laboratory, HCPA, Porto Alegre 90035903, Brazil; Bioinformatics Core, HCPA, Porto Alegre 90035903, Brazil.

Gerda Cristal Villalba Silva (GC)

Cells, Tissues and Genes Laboratory, HCPA, Porto Alegre 90035903, Brazil; Bioinformatics Core, HCPA, Porto Alegre 90035903, Brazil; Postgraduate Program in Genetics and Molecular Biology, UFRGS, Porto Alegre 91501970, Brazil.

Francyne Kubaski (F)

Department of Genetics, UFRGS, Porto Alegre 91501970, Brazil; Medical Genetics Service, HCPA, Porto Alegre 90035903, Brazil; Biodiscovery Lab, HCPA, Porto Alegre 90035903, Brazil.

Roberto Giugliani (R)

Cells, Tissues and Genes Laboratory, HCPA, Porto Alegre 90035903, Brazil; Department of Genetics, UFRGS, Porto Alegre 91501970, Brazil; Medical Genetics Service, HCPA, Porto Alegre 90035903, Brazil; Biodiscovery Lab, HCPA, Porto Alegre 90035903, Brazil.

Ursula Matte (U)

Cells, Tissues and Genes Laboratory, HCPA, Porto Alegre 90035903, Brazil; Bioinformatics Core, HCPA, Porto Alegre 90035903, Brazil; Postgraduate Program in Genetics and Molecular Biology, UFRGS, Porto Alegre 91501970, Brazil; Department of Genetics, UFRGS, Porto Alegre 91501970, Brazil. Electronic address: umatte@hcpa.edu.br.

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Classifications MeSH