PXD033635

PXD033635 is an original dataset announced via ProteomeXchange.

Title	Whole proteome analysis of leukocytes isolated from peripheral blood of patients with sex determination defects and germ cell tumors, occurred in Swyer and CAIS.
Description	The ability to transmit genetic information through generations depends on preservation of genome integrity. Genetic abnormalities affect cell differentiation, causing tissue specification defects and cancer. We addressed genomic instability in individuals with Differences of Sex Development (DSD), characterized by gonadal dysgenesis, sex reversal, infertility, high susceptibility for different types of cancer, especially Germ Cell Tumors (GCT), and in men with testicular GCTs. We analyzed the whole proteome of leukocytes and confirmed it with immunoblotting and quantitative PCR analysis. Additional data from tissue biopsies strengthen our observations in peripheral blood. In particular, the analysis of leukocytes and dysgenic gonads uncovered DNA damage phenotypes, supported by changes in DNA damage response mechanisms: altered autophagy and innate immune response, suppressed TP53-dependent DNA repair.
HostingRepository	PRIDE
AnnounceDate	2023-11-14
AnnouncementXML	Submission_2023-11-14_09:02:50.599.xml
DigitalObjectIdentifier
ReviewLevel	Peer-reviewed dataset
DatasetOrigin	Original dataset
RepositorySupport	Unsupported dataset by repository
PrimarySubmitter	Marcin Luzarowski
SpeciesList	scientific name: Homo sapiens (Human); NCBI TaxID: 9606;
ModificationList	No PTMs are included in the dataset
Instrument	Q Exactive HF

Revision	Datetime	Status	ChangeLog Entry
0	2022-05-04 14:26:36	ID requested
1	2023-07-20 11:00:41	announced
⏵ 2	2023-11-14 09:02:59	announced	2023-11-14: Updated project metadata.

Krivega M, Zimmer J, Slezko A, Frank-Herrmann P, Rehnitz J, Hohenfellner M, Bettendorf M, Luzarowski M, Strowitzki T, Genomic instability in individuals with sex determination defects and germ cell cancer. Cell Death Discov, 9(1):173(2023) [pubmed]

submitter keyword: GCT,Differences of sex development, Swyer syndrome, Complete Androgen Insensitivity syndrome, DSD, CAIS, Germ cell tumor

Maria Krivega
contact affiliation	Universitätsklinikum Heidelberg (UKHD)
contact email	maria.krivega@med.uni-heidelberg.de
lab head
Marcin Luzarowski
contact affiliation	Max Planck Institute of Molecular Plant Physiology
contact email	luzarowski@mpimp-golm.mpg.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/2023/07/PXD033635

PRIDE project URI

• PRIDE
  1. PXD033635
     1. Label: PRIDE project
     2. Name: Whole proteome analysis of leukocytes isolated from peripheral blood of patients with sex determination defects and germ cell tumors, occurred in Swyer and CAIS.