PXD009063 is an
original dataset announced via ProteomeXchange.
Dataset Summary
Title | Multi-OMICS data of a Hyper IgD Syndrome family |
Description | The aim of this study was to understand why two siblings carrying both the same homozygous causal mutation for the auto-inflammatory disease hyper IgD show opposite phenotypes, i.e. the first being asymptomatic, the second presenting all classical characteristics of the disease. As compared to studies of a single omics type, the multi-omics approach becomes a method of choice to resolve complex traits. Here we combined exome, proteome and transcriptome analysis in the two siblings and identified a single gene - STAT1 - harboring a rare missense variant and showing mRNA and protein abundances significantly more important in the symptomatic than the asymptomatic sister. This mutation was shown to be a gain of function mutation involved in an increased activation of the JAK/STAT pathway which is known to play a critical role in inflammatory diseases and for which specific bio-therapies exist. Pathway analysis based on information from differentially expressed transcripts and proteins confirmed the central role of STAT1 in the proposed regulatory network leading to an increased inflammatory phenotype in the symptomatic sibling. In addition, we provide a proteogenomics analysis pipeline that takes advantage of subject-specific genomic and transcriptomic information to improve protein identifications. In conclusion, this study demonstrates the power of a multi-omics approach to uncover potentially clinically actionable targets for a personalized therapy. |
HostingRepository | PRIDE |
AnnounceDate | 2019-10-24 |
AnnouncementXML | Submission_2019-10-25_03:56:02.xml |
DigitalObjectIdentifier | https://dx.doi.org/10.6019/PXD009063 |
ReviewLevel | Peer-reviewed dataset |
DatasetOrigin | Original dataset |
RepositorySupport | Supported dataset by repository |
PrimarySubmitter | Carapito Christine |
SpeciesList | scientific name: Homo sapiens (Human); NCBI TaxID: 9606; |
ModificationList | No PTMs are included in the dataset |
Instrument | maXis |
Dataset History
Revision | Datetime | Status | ChangeLog Entry |
0 | 2018-02-28 02:51:01 | ID requested | |
1 | 2019-10-24 03:04:14 | announced | |
⏵ 2 | 2019-10-25 03:56:04 | announced | 2019-10-25: Updated publication reference for PubMed record(s): 30030262. |
Publication List
Carapito R, Carapito C, Morlon A, Paul N, Vaca Jacome AS, Alsaleh G, Rolli V, Tahar O, Aouadi I, Rompais M, Delalande F, Pichot A, Georgel P, Messer L, Sibilia J, Cianferani S, Van Dorsselaer A, Bahram S, as a potential modifier gene in mevalonate kinase deficiency. Ann Rheum Dis, 77(11):1675-1687(2018) [pubmed] |
Keyword List
curator keyword: Biological, Biomedical |
submitter keyword: Proteogenomics analysis - Differential Analysis - Hyper IgD Syndrome - Single Amino Acid Variant Characterization |
Contact List
Christine CARAPITO |
contact affiliation | Laboratoire de Spectrométrie de Masse BioOrganique, University of Strasbourg, CNRS, IPHC, UMR 7178, F-67000 Strasbourg, France |
contact email | ccarapito@unistra.fr |
lab head | |
Carapito Christine |
contact affiliation | Department of Analytical Sciences |
contact email | ccarapito@unistra.fr |
dataset submitter | |
Full Dataset Link List
Dataset FTP location
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PRIDE project URI |
Repository Record List
[ + ]
[ - ]
- PRIDE
- PXD009063
- Label: PRIDE project
- Name: Multi-OMICS data of a Hyper IgD Syndrome family