SF3A1

SF3A1

A gene on chromosome 22q12.2 that encodes subunit 1 of the splicing factor SF3A, which is required for “A” complex assembly by the stable binding of U2 snRNP to the branchpoint sequence in pre-mRNA. It may anchor U2 snRNP to pre-mRNA and be involved in assembling the “E” complex.
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References in periodicals archive ?
These were SF3A1 and two Alu repeats, ALUsq and ALUsx[22].
Gene of interest Forward sequence [beta]-catenin 5'-CTGACTTTGCTTGCTTGA-3 COX-2 5'-GAAGCCAATTCAGTAGGT-3' PPARy 5'-AGGTTTGCTGAATGTGAAG-3' IL-17A 5'-CCACACTCCCCAAAGCAGTT-3' Reference genes Forward sequence ALUSq 5'-CATGGTGAAACCCCGTCTCTA-3 ALUSx 5'-TGGTGAAACCCCGTCTCTACTAA-3' SF3A1 Commercial primer, obtained from GeNorm[TM] Gene of interest Reverse sequence [beta]-catenin 5'-CACTATAACTTAACACTACGAG-3' COX-2 5'-ACGAAGTGATGAGAAGAC-3' PPARy 5'-AATCTGTCTGAGGTCTGTC-3' IL-17A 5'-TGACATGCCATTCCTCAGGG-3' Reference genes Reverse sequence ALUSq 5'-GCCTCAGCCTCCCGAGTAG-3' ALUSx 5'-CCTCAGCCTCCCGAGTAGCT-3' SF3A1 Normalization kit.
Here, we screened epigenetic modulators associated with different complexes and core splicing factors by shRNA mediated loss of function assays and identified splicing factors Sf3a1 and Sf3b1 that are required for direct cardiac reprogramming.
Interestingly, the top targets, knocking down of which caused 5-fold decreases in the percentage of [alpha]MHC-GFP+ iCMs, are splicing factor 3a, subunit 1 (Sf3a1), and splicing factor 3b, subunit 1 (Sf3b1).
Impaired Cardiac Reprogramming after Knockdown of Sf3a1 or Sf3b1.
On the other hand, depletion of core spliceosome factor Sf3a1 and Sf3b1 seems generally interfered with expression of all marker genes regardless of cell lineage.
For each sample, the expression of the gene of interest was normalized against the geometric mean value for the housekeeping genes splicing factor 3a subunit 1 (Sf3a1) and hypoxanthine phosphoribosyltransferase 1 (hprtl).
The genes sequenced were part of a custom, targeted next-generation sequencing amplicon panel testing for 68 hematologic malignancy-associated genes (ABL1, ASXL1, ATM, BCOR, BCORL1, BIRC3, BRAF CALR, CBL, CDKN2A, CEBPA, CSF1R, CSF3R, DDX3X, DNMT3A, ETV6, EZH2, FAM5C, FBXW7, FLT3, GATA2, GNAS, HNRNPK, IDH1, IDH2, IL7R, JAK2, KIT, KLHL6, KRAS, MAP2K1, MAPK1, MIR142, MPL, MYC, MYCN, MYD88, NF1, NOTCH1, NOTCH2, NPM1, NRAS, PDGFRA, PHF6, POT1, PRPF40B, PTEN, PTPN11, RAD21, RIT1, RUNX1, SETBP1, SF1, SF3A1, SF3B1, SMC1A, SRSF2, STAG2, TBL1XR1, TET2, TP53, TPMT, U2AF1, U2AF2, WT1, XPO1, ZMYM3, and ZRSR2) (TruSeq Custom Amplicon, Illumina Inc.) based on previously described analyses [12,13].
Class I signaling FLT3 JAK2 MPL NF1 CBL LNK CBLB PTP11 Class II transcription factors CEBPA ETV6 NPM1 RARA RUNX1 Class III epigenetic regulators DNMT3A IDH1 IDH2 TET2 ASXL1 EZH2 PHF6 UTX EED Class IV tumor suppressor genes TP53 WT1 CDKN2A CDKN2B Class V RNA maturation SF3B1 SRSF2 U2AF1 SF1 SF3A1 PRPF40B One frequently mutated epigenetic regulator in AML is DNMT3A, with approximately 22% of CN-AML patients carrying a DNMT3A mutation [79].
Novel mutations identified in hematological malignancies Spliceosomal proteins: SF3B1, SRSF2, U2AF1, ZRSRS2, SF3A1, U2AF65, SF1 Epigenetic factors: TET2, IDH1/IDH2, ASXL1/ASXL2, EZH2, DNMT3A, EED, Suz12 Signaling proteins: CBL, Calreticulin (CALR), SETBP1, GNAS, RHOA Cohesin complex and related proteins: STAG2, SMC1A, SMC3, RAD21, CTCF1
To correct for differences in sample quality and cDNA input, we adjusted copy numbers to the arithmetic mean of 5 housekeeper genes [[ACTB.sup.8] ([beta]-actin), PSMC4 (proteasome 26S subunit, ATPase, 4), PUM1 (pumilio homolog 1, Drosophila), MRPL19 (mitochondrial ribosomal protein L19), and SF3A1 (splicing factor 3a, subunit 1, 120 kDa)].
[8] Human genes: ACTB, [beta]-actin; PSMC4, proteasome 26S subunit, ATPase, 4; PUM1, pumilio homolog 1, Drosophila; MRPL19, mitochondrial ribosomal protein L19; SF3A1, splicing factor 3a, subunit 1, 120 kDa; ERBB2, v-erb-b2 erythroblastic leukemia viral oncogen homolog 2; ESR1, estrogen receptor 1; ICBM, immunoglobulin binding protein 1.