<<< Full experiment listing

PXD024803-1

PXD024803 is an original dataset announced via ProteomeXchange.

Dataset Summary
TitleCHD6 IP from human induced pluripotent stem cells LC-MS-MS
DescriptionMembers of the chromodomain-helicase-DNA binding (CHD) protein family are chromatin remodelers implicated in human pathologies, with CHD6 being one of its least studied members. We discovered a de novo CHD6 missense mutation in a patient clinically presenting the rare Hallermann-Streiff syndrome (HSS). We used genome editing to generate isogenic iPSC lines and model HSS in relevant cell types. By combining genomics with functional in vivo and in vitro assays, we show that CHD6 binds a cohort of autophagy and stress response genes across cell types. The HSS mutation affects CHD6 protein folding and impairs its ability to recruit co-remodelers in response to DNA damage or autophagy stimulation. This leads to accumulation of DNA damage burden and senescence-like phenotypes. We therefore uncovered a molecular mechanism explaining HSS onset via chromatin control of autophagic flux and genotoxic stress surveillance.
HostingRepositoryPRIDE
AnnounceDate2021-03-20
AnnouncementXMLSubmission_2021-03-20_11:38:28.794.xml
DigitalObjectIdentifier
ReviewLevelPeer-reviewed dataset
DatasetOriginOriginal dataset
RepositorySupportUnsupported dataset by repository
PrimarySubmitterYulia Kargapolova
SpeciesList scientific name: Homo sapiens (Human); NCBI TaxID: 9606;
ModificationListacetylated residue; monohydroxylated residue
InstrumentQ Exactive Plus
Dataset History
RevisionDatetimeStatusChangeLog Entry
02021-03-17 11:17:15ID requested
12021-03-20 11:38:29announced
Publication List
Dataset with its publication pending
Keyword List
submitter keyword: Hallermann-Streiff Syndrome, human iPSCs, LC-MS/MS, CHD6 immunoprecipitation, CHD6 overexpression
Contact List
Argyris Papantonis
contact affiliationProfessor for Translational Epigenetics, Institute of Pathology, University Medical Center Germany
contact emailargyris.papantonis@med.uni-goettingen.de
lab head
Yulia Kargapolova
contact affiliationUniversity of Cologne
contact emailykargapo@uni-koeln.de
dataset submitter
Full Dataset Link List
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/2021/03/PXD024803
PRIDE project URI
Repository Record List
[ + ]