PXD057195-1

PXD057195 is an original dataset announced via ProteomeXchange.

Title	Gain-of-function RBM20 variants linked to severe dilated cardiomyopathy impair mitochondrial function.
Description	We first performed solubility profiling in RBM20-WT, -P635L+/+ and -R636Q+/+ mice. We lysed murine ventricular tissues using either a mild detergent (NP-40) to extract only the soluble fraction of the proteome, or a strong detergent (SDS) to extract total proteomes, within the same experiment. Solubility is quantified as a proportion of the protein amount identified in the soluble fraction divided by the protein amount in the total fraction. The solubility values of proteins interacting within the same cellular compartment are then expected to be similar. For this experiment, we used N = 3 mice per genotype, with two fractions (total and soluble) for each mouse. We then perfomred proteomics analysis of only soluble proteomes, to gain a deeper understanging of the mechanism causing the downregulation of soluble proteins in RBM20-mutant mice. For that, we lysed left ventricules of RBM20-WT, -P635L+/+ and -R636Q+/+ mice, total N = 6 mice per genotype, using mild detergent (NP-40). In addition, to assess whether our observed findings are specific to these gain-of-fucntion variants, we compared soluble lysates of RBM20-WT and RBM20-KO (Loss-of-function, LoF model) mice, N=4 mice per genotype. All mice for all experiments were between 14-17 weeks of age. To validate our findings in a human caridac model, we performed analyses of total (lysed with SDS) proteomes of human iPSC-derived cardiac organoids with RBM20-WT, -P633L, -R634Q, and -KO, N = 3 biological replicates each.
HostingRepository	PRIDE
AnnounceDate	2026-07-19
AnnouncementXML	Submission_2026-07-19_11:07:53.439.xml
DigitalObjectIdentifier
ReviewLevel	Peer-reviewed dataset
DatasetOrigin	Original dataset
RepositorySupport	Unsupported dataset by repository
PrimarySubmitter	Frank Stein
SpeciesList	scientific name: Homo sapiens (Human); NCBI TaxID: NEWT:9606; scientific name: Mus musculus (Mouse); NCBI TaxID: NEWT:10090;
ModificationList	No PTMs are included in the dataset
Instrument	Orbitrap Fusion Lumos

Revision	Datetime	Status	ChangeLog Entry
0	2024-10-25 06:13:38	ID requested
⏵ 1	2026-07-19 11:07:53	announced

Dataset with its publication pending

ProteomeXchange project tag: Cardiovascular (B/D-HPP), Biology/Disease-Driven Human Proteome Project (B/D-HPP), Human Proteome Project

submitter keyword: RBM20, mitochondrial dysfunction, mice, solubility profiling, heart failure, human iPSC-derived cardioids,DCM

Prof. Dr.
contact affiliation	Department of Genetics, Stanford University School of Medicine, Stanford, CA, USA Stanford Genome Technology Center, Palo Alto, CA, USA Genome Biology Unit, European Molecular Biology Laboratory (EMBL), Heidelberg, Germany
contact email	Lars.Steinmetz@stanford.edu
lab head
Frank Stein
contact affiliation	EMBL
contact email	frank.stein@embl.de
dataset submitter

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PRIDE project URI

• PRIDE
  1. PXD057195
     1. Label: PRIDE project
     2. Name: Gain-of-function RBM20 variants linked to severe dilated cardiomyopathy impair mitochondrial function.