PXD024803-1

PXD024803 is an original dataset announced via ProteomeXchange.

Title	CHD6 IP from human induced pluripotent stem cells LC-MS-MS
Description	Members 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.
HostingRepository	PRIDE
AnnounceDate	2021-03-20
AnnouncementXML	Submission_2021-03-20_11:38:28.794.xml
DigitalObjectIdentifier
ReviewLevel	Peer-reviewed dataset
DatasetOrigin	Original dataset
RepositorySupport	Unsupported dataset by repository
PrimarySubmitter	Yulia Kargapolova
SpeciesList	scientific name: Homo sapiens (Human); NCBI TaxID: 9606;
ModificationList	acetylated residue; monohydroxylated residue
Instrument	Q Exactive Plus

Revision	Datetime	Status	ChangeLog Entry
0	2021-03-17 11:17:15	ID requested
⏵ 1	2021-03-20 11:38:29	announced

Dataset with its publication pending

submitter keyword: Hallermann-Streiff Syndrome, human iPSCs, LC-MS/MS, CHD6 immunoprecipitation, CHD6 overexpression

Argyris Papantonis
contact affiliation	Professor for Translational Epigenetics, Institute of Pathology, University Medical Center Germany
contact email	argyris.papantonis@med.uni-goettingen.de
lab head
Yulia Kargapolova
contact affiliation	University of Cologne
contact email	ykargapo@uni-koeln.de
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/2021/03/PXD024803

PRIDE project URI

• PRIDE
  1. PXD024803
     1. Label: PRIDE project
     2. Name: CHD6 IP from human induced pluripotent stem cells LC-MS-MS