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ProteomicsChromosomal instability by mutations in the novel minor spliceosome component CENATAC
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 identifie...
ORGANISM(S): Homo sapiens (Human) 
2021-04-07 | PXD024682 | Pride
Minor spliceosome Ccdc84 Aneuploidy Cenatac 
ProteomicsA not so minor role for the minor spliceosome in spermatogenesis
Minor introns have been highly conserved in the genome since their emergence in the last eukaryotic common ancestor and are found in genes related to proliferation, chromatin organization, transcription, and splicing. Here, we show that minor intron-containing genes (MIGs) involved in the gene expre...
ORGANISM(S): Mus musculus (Mouse) 
2026-03-03 | PXD064454 | Pride
Timstof ht Data independent acquisition Spliceosome Spermatogenesis 
ProteomicsFunctional divergence of the paralogous RBM41 and U11/U12-65K proteins in the minor spliceosome
In this work, we identify RBM41 as a novel unique protein component of the minor spliceosome. RBM41 has no previously recognized cellular function but has been identified as a paralog of the U11/U12-65K protein, a known unique component of the minor spliceosome that functions during the early steps ...
ORGANISM(S): Homo Sapiens (ncbitaxon:9606) 
MSV000092983 | MassIVE
TranscriptomicsAberrant splicing of U12-type introns is the hallmark of ZRSR2 mutant myelodysplastic syndrome
Somatic mutations in the spliceosome gene ZRSR2 (located on the X chromosome) are associated with myelodysplastic syndrome (MDS). ZRSR2 is involved in the recognition of 3' splice site during the early stages of spliceosome assembly; however, its precise role in RNA splicing has remained unclear. He...
ORGANISM(S): Homo sapiens 
2015-01-15 | E-GEOD-63816 | biostudies-arrayexpress
GenomicsThe major and minor spliceosome interact to regulate alternative splicing [PBMCs]
The major and minor spliceosome interact to regulate alternative splicing [PBMCs]
PRJNA634875 | ENA
GenomicsThe major and minor spliceosome interact to regulate alternative splicing [HEK293 cells]
The major and minor spliceosome interact to regulate alternative splicing [HEK293 cells]
PRJNA634876 | ENA
GenomicsMinor intron splicing efficiency increases with the development of lethal prostate cancer
We sought to determine the effect of a minor spliceosome inhibition by U6atac snRNA depletion in prostate cancer. We performed siRNA-mediated knock-down (96h) of the minor spliceosome snRNA U6atac in androgen-sensitive LNCaP cells, androgen-insensitive C4-2 and 22Rv1 cells and in patient derived n...
EGAS00001005546 | EGA
TranscriptomicsThe major and minor spliceosome interact to regulate alternative splicing [PBMCs]
Mutations in minor spliceosome components are linked to diseases such as Roifman syndrome, Lowry-Wood syndrome, and early-onset cerebellar ataxia (EOCA). Here we report that besides increased minor intron retention, Roifman syndrome and EOCA can also be characterized by elevated alternative splicing...
ORGANISM(S): Homo sapiens 
2021-05-01 | GSE151141 | GEO
GenomicsA novel minor spliceosome component required for splicing of AT-AC introns
A novel minor spliceosome component required for splicing of AT-AC introns
PRJNA600275 | ENA
TranscriptomicsThe major and minor spliceosome interact to regulate alternative splicing [HEK293 cells]
Mutations in minor spliceosome components are linked to diseases such as Roifman syndrome, Lowry-Wood syndrome, and early-onset cerebellar ataxia (EOCA). Here we report that besides increased minor intron retention, Roifman syndrome and EOCA can also be characterized by elevated alternative splicing...
ORGANISM(S): Homo sapiens 
2021-05-01 | GSE151140 | GEO
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