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dc.contributor.author
Statzer, Cyril
dc.contributor.author
Ewald, Collin
dc.date.accessioned
2021-01-08T17:38:33Z
dc.date.available
2020-12-01T10:46:50Z
dc.date.available
2020-12-01T16:00:11Z
dc.date.available
2020-12-01T16:01:16Z
dc.date.available
2021-01-08T17:38:33Z
dc.date.issued
2020-11
dc.identifier.issn
2590-0285
dc.identifier.other
10.1016/j.mbplus.2020.100039
en_US
dc.identifier.uri
http://hdl.handle.net/20.500.11850/453944
dc.identifier.doi
10.3929/ethz-b-000453944
dc.description.abstract
Extracellular matrices are essential for cellular and organismal function. Recent genome-wide and phenome-wide association studies started to reveal a broad spectrum of phenotypes associated with genetic variants. However, the phenome or spectrum of all phenotypes associated with genetic variants in extracellular matrix genes is unknown. Here, we analyzed over two million recorded genotype-to-phenotype relationships across multiple species to define their extracellular matrix phenomes. By using the previously defined matrisomes of humans, mice, zebrafish, Drosophila, and C. elegans, we found that the extracellular matrix phenome comprises of 3–10% of the entire phenome. Collagens (COL1A1, COL2A1) and fibrillin (FBN1) are each associated with >150 distinct phenotypes in humans, whereas collagen COL4A1, Wnt- and sonic hedgehog (shh) signaling are predominantly associated in other species. We determined the phenotypic fingerprints of matrisome genes and found that MSTN, CTSD, LAMB2, HSPG2, and COL11A2 and their corresponding orthologues have the most phenotypes across species. Out of the 42,551 unique matrisome genotype-to-phenotype relationships across the five species with defined matrisomes, we have constructed interaction networks to identify the underlying molecular components connecting with orthologues phenotypes and with novel phenotypes. Thus, our networks provide a framework to predict unassessed phenotypes and their potential underlying molecular interactions. These frameworks inform on matrisome genotype-to-phenotype relationships and potentially provide a sophisticated choice of biological model system to study human phenotypes and diseases.
en_US
dc.format
application/pdf
en_US
dc.language.iso
en
en_US
dc.publisher
Elsevier
en_US
dc.rights.uri
http://creativecommons.org/licenses/by-nc-nd/4.0/
dc.subject
Phenome
en_US
dc.subject
Genotype-to-phenotype
en_US
dc.subject
Matrisome
en_US
dc.subject
Extracellular matrix
en_US
dc.subject
Collagen
en_US
dc.subject
Data mining
en_US
dc.title
The extracellular matrix phenome across species
en_US
dc.type
Journal Article
dc.rights.license
Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International
dc.date.published
2020-06-23
ethz.journal.title
Matrix Biology Plus
ethz.journal.volume
8
en_US
ethz.pages.start
100039
en_US
ethz.size
16 p.
en_US
ethz.version.deposit
publishedVersion
en_US
ethz.grant
The role of extracellular matrix enhancement in promoting healthy aging
en_US
ethz.identifier.scopus
ethz.publication.place
Oxford
en_US
ethz.publication.status
published
en_US
ethz.leitzahl
ETH Zürich::00002 - ETH Zürich::00012 - Lehre und Forschung::00007 - Departemente::02070 - Dep. Gesundheitswiss. und Technologie / Dep. of Health Sciences and Technology::02540 - Institut für Translationale Medizin / Institute of Translational Medicine::09598 - Ewald, Collin Y. / Ewald, Collin Y.
en_US
ethz.leitzahl.certified
ETH Zürich::00002 - ETH Zürich::00012 - Lehre und Forschung::00007 - Departemente::02070 - Dep. Gesundheitswiss. und Technologie / Dep. of Health Sciences and Technology::02540 - Institut für Translationale Medizin / Institute of Translational Medicine::09598 - Ewald, Collin Y. / Ewald, Collin Y.
en_US
ethz.grant.agreementno
163898
ethz.grant.fundername
SNF
ethz.grant.funderDoi
10.13039/501100001711
ethz.grant.program
SNF-Förderungsprofessuren Stufe 2
ethz.date.deposited
2020-12-01T10:46:59Z
ethz.source
FORM
ethz.eth
yes
en_US
ethz.availability
Open access
en_US
ethz.rosetta.installDate
2021-01-08T17:38:41Z
ethz.rosetta.lastUpdated
2022-03-29T04:45:32Z
ethz.rosetta.exportRequired
true
ethz.rosetta.versionExported
true
ethz.COinS
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