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PXD024682 is an original dataset announced via ProteomeXchange.

Dataset Summary
TitleChromosomal instability by mutations in the novel minor spliceosome component CENATAC
DescriptionAneuploidy 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.
ReviewLevelPeer-reviewed dataset
DatasetOriginOriginal dataset
RepositorySupportUnsupported dataset by repository
PrimarySubmitterPascal Jansen
SpeciesList scientific name: Homo sapiens (Human); NCBI TaxID: 9606;
ModificationListiodoacetamide derivatized residue
InstrumentQ Exactive HF-X
Dataset History
RevisionDatetimeStatusChangeLog Entry
02021-03-11 07:44:06ID requested
12021-04-07 01:18:45announced
Publication List
Dataset with its publication pending
Keyword List
submitter keyword: Aneuploidy, minor spliceosome, CENATAC, CCDC84
Contact List
Geert J.P.L. Kops
contact affiliationHubrecht Institute - Royal Academy of Arts and Sciences and University Medical Centre Utrecht, Utrecht, the Netherlands
contact emailg.kops@hubrecht.eu
lab head
Pascal Jansen
contact affiliationRadboud University
contact emailp.jansen@science.ru.nl
dataset submitter
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