SETD2

SETD2

A gene on chromosome 3p21.31 that encodes a ubiquitously expressed histone methyltransferase that specifically methylates Lys-36 of histone H3. Lys-36 methylation is a specific tag for epigenetic transcriptional activation. SETD2 likely plays a role in chromatin structure modulation during elongation via its interaction with hyperphosphorylated POLR2A. It may also act as a promoter-binding transcription activator.
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The study also identified new features of the canine OS, including recurrent and potentially cancer-causing mutations in two genes, SETD2 and DMD.
Mutations in STAT5B and SETD2 have been described in the MEITL cases of [gamma]-[delta] derivation.
Next-generation sequencing (NGS) was available in seven patients using a custom-designed 49 genes' panel (Ion S5™ System, Thermo Fisher, San Diego, CA, USA), including the entire coding region of ASXL1, ASXL2, BCOR, BCORL1, BIRC3, BRAF, CALR, CBL, CDKN2A, CSF3R, CSMD1, DNMT3A, ETNK1, ETV6, EZH2, FBXW7, FLT3, GATA2, IDH1, IDH2, IL7R, JAK1, JAK2, JAK3, KIT, KRAS, MPL, MYD88, NOTCH1, NRAS, PAX5, PDGFRA, PDGFRB, PHF6, PIGA, PTEN, PTPN11, RUNX1, SETBP1, SETD2, SF3B1, SH2B3, SRSF2, STAG2, TET2, TP53, U2AF1, WT1 , and ZRSR2 , with a median depth of x2000.
These genes are involved in the regulation of development and somatic growth (la IGF1RB and lb IGF1RB, IGF-I receptor subtype A) [26], response to the DNA damage and regulation of the DNA mismatch repair (SETD2, RIF1) [27, 28], actin filament polymerization (FH1/FH2 domain-containing protein 3, (FHOD3)), transcriptional regulation (male-specific lethal 3-like 1 (MS3L1)), and formation of centromere/kinetochore complex (centromere protein F (CENPF)) [29] (Table 2, Supplementary File Data).
Analysis of protein-protein interaction: STRING prediction indicated that UTY interacts with heat shock protein 90 kDa alpha, class A member 1 (HSP90AA1); heat shock protein 90 kDa alpha, class B member 1 (HSP90AB1); ubiquitin specific peptidase 9, Y-linked (USP9Y); lysine (K)-specific demethylase 5D (KDM5D); histone deacetylase 2 (HDAC2); histone deacetylase 1 (HDAC1); histone deacetylase 3 (HDAC3); SET domain containing 2 (SETD2); DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, Y-linked (DDX3Y) and sex determining region Y (SRY) (Figure 4).
H3K36 is methylated by the KMT3 family (SETD2 and NSD1) as well as NSD2, NSD3, SMYD1, SMYD2, SMYD3, SMYD4, and SMYD5.
Moreover, cells lacking SETD2 (H3K36 trimethyltransferase SET domain containing protein 2) display MSI due to the loss of an epigenetic histone mark that is essential for the recruitment of the MSH2-MSH6 complex.
Mutations in VHL have been detected in MM samples [32], along with other mutations at 3p21 such as SETD2 and PBRM1 [33].
About 2.6% of cancer patients experience mutations in SETD2 gene [118, 123].
Histone methyltransferase gene SETD2 is a novel tumor suppressor gene in clear cell renal cell carcinoma.
Deleterious mutations have been observed to be enriched in genes that were not previously appreciated to have a role in suppressing cancer, such as the chromatin regulators ARID 1A, PBRM1, and SETD2, thus broadening our understanding of the cellular pathways deregulated during oncogenesis.
It's the location of the VHL gene and PBRM1, as well as another recently identified mutated gene, SETD2. All these genes are involved in altering the structure of chromatin, the scaffold that holds DNA together in cells.