PXD024682

PXD024682 is an original dataset announced via ProteomeXchange.

Title	Chromosomal instability by mutations in the novel minor spliceosome component CENATAC
Description	Aneuploidy is the leading cause of miscarriage and congenital birth defects, and a hallmark of cancer. Despite this strong association with human disease, the genetic causes of aneuploidy remain largely unknown. Through exome sequencing of patients with constitutional mosaic aneuploidy, we identified biallelic truncating mutations in CENATAC (CCDC84). We show that CENATAC is a novel component of the minor (U12-dependent) spliceosome that promotes splicing of a specific, rare minor intron subtype. This subtype is characterized by AT-AN splice sites and relatively high basal levels of intron retention. CENATAC depletion or expression of disease mutants resulted in excessive retention of AT-AN minor introns in ~100 genes enriched for nucleocytoplasmic transport and cell cycle regulators, and caused chromosome segregation errors. Our findings reveal selectivity in minor intron splicing and suggest a link between minor spliceosome defects and constitutional aneuploidy in humans.
HostingRepository	PRIDE
AnnounceDate	2021-04-07
AnnouncementXML	Submission_2021-04-07_01:18:45.032.xml
DigitalObjectIdentifier
ReviewLevel	Peer-reviewed dataset
DatasetOrigin	Original dataset
RepositorySupport	Unsupported dataset by repository
PrimarySubmitter	Pascal Jansen
SpeciesList	scientific name: Homo sapiens (Human); NCBI TaxID: 9606;
ModificationList	iodoacetamide derivatized residue
Instrument	Q Exactive HF-X

Revision	Datetime	Status	ChangeLog Entry
0	2021-03-11 07:44:06	ID requested
⏵ 1	2021-04-07 01:18:45	announced

Dataset with its publication pending

submitter keyword: Aneuploidy, minor spliceosome, CENATAC, CCDC84

Geert J.P.L. Kops
contact affiliation	Hubrecht Institute - Royal Academy of Arts and Sciences and University Medical Centre Utrecht, Utrecht, the Netherlands
contact email	g.kops@hubrecht.eu
lab head
Pascal Jansen
contact affiliation	Radboud University
contact email	p.jansen@science.ru.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/2021/04/PXD024682

PRIDE project URI

• PRIDE
  1. PXD024682
     1. Label: PRIDE project
     2. Name: Chromosomal instability by mutations in the novel minor spliceosome component CENATAC