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PXD040206

PXD040206 is an original dataset announced via ProteomeXchange.

Dataset Summary
TitleExome Sequencing Links the SUMO Protease SENP7 with Fatal Arthrogryposis Multiplex Congenita, Early Respiratory Failure, and Neutropenia
DescriptionSUMOylation 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.
HostingRepositoryPRIDE
AnnounceDate2024-10-22
AnnouncementXMLSubmission_2024-10-22_05:58:02.286.xml
DigitalObjectIdentifier
ReviewLevelPeer-reviewed dataset
DatasetOriginOriginal dataset
RepositorySupportUnsupported dataset by repository
PrimarySubmitterNicolette Sophie Jansen
SpeciesList scientific name: Homo sapiens (Human); NCBI TaxID: 9606;
ModificationListacetylated residue; monohydroxylated residue; iodoacetamide derivatized residue
InstrumentOrbitrap Exploris 480
Dataset History
RevisionDatetimeStatusChangeLog Entry
02023-02-16 14:52:41ID requested
12023-07-26 06:49:21announced
22023-11-14 06:43:32announced2023-11-14: Updated project metadata.
32024-10-22 05:58:02announced2024-10-22: Updated project metadata.
Publication List
10.1136/JMG-2023-109267;
Keyword List
submitter keyword: Human, fibroblast, patient, mutation
Contact List
Alfred C. O. Vertegaal
contact affiliationCCB, LUMC, Netherlands
contact emaila.c.o.vertegaal@lumc.nl
lab head
Nicolette Sophie Jansen
contact affiliationLUMC
contact emailn.s.jansen@lumc.nl
dataset submitter
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Dataset FTP location
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PRIDE project URI
Repository Record List
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