PXD040206 is an
original dataset announced via ProteomeXchange.
Dataset Summary
Title | Exome Sequencing Links the SUMO Protease SENP7 with Fatal Arthrogryposis Multiplex Congenita, Early Respiratory Failure, and Neutropenia |
Description | SUMOylation involves the attachment of Small Ubiquitin-like Modifier (SUMO) proteins to specific lysine residues on thousands of substrates with various effects on protein function. Sentrin-specific proteases (SENPs) are proteins involved in the maturation and de-conjugation of SUMO. Specifically, SENP7 is responsible for processing polySUMO chains on targeted substrates including the heterochromatin protein HP1α. Here, we describe a large family with four affected subjects presenting with a spectrum of findings including congenital arthrogryposis, profound developmental delay, and neutropenia with recurrent infections. Exome sequencing identified a homozygous stop gain variant in SENP7 c.1474C>T; p.(Gln492*) as the probable etiology. Protein expression studies in patient fibroblasts showed significant protein dysregulation in total cell lysates and in the chromatin fraction. |
HostingRepository | PRIDE |
AnnounceDate | 2024-10-22 |
AnnouncementXML | Submission_2024-10-22_05:58:02.286.xml |
DigitalObjectIdentifier | |
ReviewLevel | Peer-reviewed dataset |
DatasetOrigin | Original dataset |
RepositorySupport | Unsupported dataset by repository |
PrimarySubmitter | Nicolette Sophie Jansen |
SpeciesList | scientific name: Homo sapiens (Human); NCBI TaxID: 9606; |
ModificationList | acetylated residue; monohydroxylated residue; iodoacetamide derivatized residue |
Instrument | Orbitrap Exploris 480 |
Dataset History
Revision | Datetime | Status | ChangeLog Entry |
0 | 2023-02-16 14:52:41 | ID requested | |
1 | 2023-07-26 06:49:21 | announced | |
2 | 2023-11-14 06:43:32 | announced | 2023-11-14: Updated project metadata. |
⏵ 3 | 2024-10-22 05:58:02 | announced | 2024-10-22: Updated project metadata. |
Publication List
Keyword List
submitter keyword: Human, fibroblast, patient, mutation |
Contact List
Alfred C. O. Vertegaal |
contact affiliation | CCB, LUMC, Netherlands |
contact email | a.c.o.vertegaal@lumc.nl |
lab head | |
Nicolette Sophie Jansen |
contact affiliation | LUMC |
contact email | n.s.jansen@lumc.nl |
dataset submitter | |
Full Dataset Link List
Dataset FTP location
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PRIDE project URI |
Repository Record List
[ + ]
[ - ]
- PRIDE
- PXD040206
- Label: PRIDE project
- Name: Exome Sequencing Links the SUMO Protease SENP7 with Fatal Arthrogryposis Multiplex Congenita, Early Respiratory Failure, and Neutropenia