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this study shows that DNMT3A (显示 DNMT3A ELISA试剂盒) mutations are present in a significant proportion of SF3B1mut patients with RARS (显示 RARS ELISA试剂盒) and its presence has a clearly negative impact on outcomes, determining a higher RBC (显示 CACNA1C ELISA试剂盒) transfusion dependency, higher risk of progression to AML (显示 RUNX1 ELISA试剂盒), and lower OS.
Somatic SF3B1 mutations are associated with metastatic NUT midline carcinoma.
Fanconi anemia (显示 PALB2 ELISA试剂盒) FANCD2 (显示 FANCD2 ELISA试剂盒) and FANCI (显示 FANCI ELISA试剂盒) proteins regulate the nuclear dynamics of splicing factors, such as SF3B1.
The frequently mutated SF3B1 residues contact the pre-mRNA splice site. Based on structural homology with other spliceosome subunits, and recent findings of altered RNA binding by mutant U2AF1 (显示 U2AF1 ELISA试剂盒) proteins, we suggest that affected U2AF1 (显示 U2AF1 ELISA试剂盒) residues also contact pre-mRNA.
The aberrantly spliced target genes and deregulated cellular pathways associated with the commonly mutated splicing factor (显示 SLU7 ELISA试剂盒) genes in myelodysplastic syndromes (SF3B1, SRSF2 (显示 SRSF2 ELISA试剂盒) and U2AF1 (显示 U2AF1 ELISA试剂盒)) are being identified, illuminating the molecular mechanisms underlying the disease. (Review)
These findings provide evidence of a multipotent lymphomyeloid Hematopoietic stem cell origin of SF3B1 mutations in myelodysplastic syndrome with ring sideroblasts patients.
Mutation in SF3B1 gene is associated with Uveal Melanoma.
Mutation in SF3B1 is associated with myelodysplastic syndrome and chronic lymphocytic leukemia.
different HSH155 alleles elicit disparate effects on splicing: some increase the fidelity of BS selection while others decrease fidelity. Our data support a model wherein conformational changes in SF3b1 promote U2 association with the BS independently of the action of the DEAD-box ATPase (显示 DNAH8 ELISA试剂盒) Prp5 (显示 DDX46 ELISA试剂盒). We propose that SF3b1 functions to stabilize weak U2/BS duplexes to drive spliceosome assembly and splicing
mutations of SF3B1 may block erythropoiesis via dysregulation of alternative RNA splicing of transcription factor TAL1 (显示 TAL1 ELISA试剂盒)
Our findings demonstrate that, despite significant differences in affected transcripts, there is overlap in the phenotypes associated with SF3B1-K700E between human and mouse.
Sf3b1(K700E) mice develop macrocytic anemia (显示 TCN2 ELISA试剂盒) due to a terminal erythroid maturation defect, erythroid dysplasia, and long-term hematopoietic stem cell (LT-HSC (显示 FUT1 ELISA试剂盒)) expansion.
myocardial hypoxia actuates fructose metabolism in human and mouse models of pathological cardiac hypertrophy through hypoxia-inducible factor 1alpha (HIF1alpha (显示 HIF1A ELISA试剂盒)) activation of SF3B1 and SF3B1-mediated splice switching of KHK (显示 KHK ELISA试剂盒)-A to KHK (显示 KHK ELISA试剂盒)-C
Sf3b1 isrequired for the blastocyst formation.
SF3B1 plays an important role in the regulation of hematopoietic stem cells, whereas SF3B1 haploinsufficiency itself is not associated with the myelodysplastic syndrome phenotype with ring sideroblasts.
The level of Sf3b1 expression is critical for the proliferative capacity of hematopoietic stem cells. Depletion of Sf3b1 impairs proliferative capacity of hematopoietic stem cells but is not sufficient to induce myelodysplasia.
SF3B1 haploinsufficiency leads to formation of ring sideroblasts in myelodysplastic syndromes.
the active spliceosome, containing SAP155 phosphorylated by DYRKIA, performs pre-mRNA splicing in spermatogonia during testicular development
active spliceosome, containing phosphorylated SAP155, performs pre-mRNA splicing on chromatin concomitant with transcription during testicular development.
Sf3b1 and Polycomb (显示 CBX2 ELISA试剂盒) group (PcG) proteins interaction is essential for true PcG-mediated repression of Hox (显示 MSH2 ELISA试剂盒) genes.
Data indicate that splicing factor 3b, subunit 1 (sf3b1) mutation causes aberrant splicing of sf3b1 resulting in functional and predicted non-functional transcripts and a 90% reduction in full-length Sf3b1 protein.
This gene encodes subunit 1 of the splicing factor 3b protein complex. Splicing factor 3b, together with splicing factor 3a and a 12S RNA unit, forms the U2 small nuclear ribonucleoproteins complex (U2 snRNP). The splicing factor 3b/3a complex binds pre-mRNA upstream of the intron's branch site in a sequence independent manner and may anchor the U2 snRNP to the pre-mRNA. Splicing factor 3b is also a component of the minor U12-type spliceosome. The carboxy-terminal two-thirds of subunit 1 have 22 non-identical, tandem HEAT repeats that form rod-like, helical structures. Alternative splicing results in multiple transcript variants encoding different isoforms.
, pre-mRNA processing 10
, pre-mRNA splicing factor SF3b, 155 kDa subunit
, spliceosome-associated protein 155
, splicing factor 3B subunit 1
, pre-mRNA-splicing factor SF3b 155 kDa subunit
, splicing factor 3b, subunit 1, 155 kDa
, transforming growth factor alpha regulated gene 4
, 146 kDa nuclear protein
, splicing factor 3b, subunit 1, 155kDa
, splicing factor 3B subunit 1-like
, splicing factor 3b, subunit 1, 155kD