PXD040206

PXD040206 is an original dataset announced via ProteomeXchange.

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

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.

10.1136/JMG-2023-109267;

submitter keyword: Human, fibroblast, patient, mutation

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

Dataset FTP location NOTE: Most web browsers have now discontinued native support for FTP access within the browser window. But you can usually install another FTP app (we recommend FileZilla) and configure your browser to launch the external application when you click on this FTP link. Or otherwise, launch an app that supports FTP (like FileZilla) and use this address: ftp://ftp.pride.ebi.ac.uk/pride/data/archive/2023/07/PXD040206

PRIDE project URI

• PRIDE
  1. PXD040206
     1. Label: PRIDE project
     2. Name: Exome Sequencing Links the SUMO Protease SENP7 with Fatal Arthrogryposis Multiplex Congenita, Early Respiratory Failure, and Neutropenia