SOX17

SOX17

A gene on chromosome 8q11.23 that encodes a member of the SOX (SRY-related HMG-box) family of transcription factors, which regulate embryonic development and determine cell fate. SOX17 may act as a transcription regulator after forming a complex with other proteins.
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Mutations in SOX17, which regulate [beta]-catenin, are observed exclusively in this subgroup.
of Gene subgroup SMGs symbol Hypermutated/ 21 PTEN microsatellite- PIK3CA unstable PIK3R1 ARID1A RPL22 KRAS ZFHX3 ARID5B CTCF CTNNB1 ATR GIGYF2 CSDE1 FGFR2 CCND1 LIMCH1 RBMX NKAP HIST1H2BD TNFAIP6 MIR1277 Copy number low/ 16 PTEN microsatellite- PIK3CA stable CTNNB1 ARID1A PIK3R1 CTCF KRAS FGFR2 CHD4 SPOP CSMD3 (b) SOX17 SGK1 BCOR MECOM METTL14 Copy number high 8 TP53 (serous-like) PIK3CA FBXW7 PPP2R1A PIK3R1 CHD4 PTEN CSMD3 (b) Molecular Gene name Somatic-mutation subgroup frequency Hypermutated/ Phosphatase and tensin homolog 87.
SOX2 is expressed in the nuclei of embryonal carcinoma but is not expressed in those of seminoma, (26-29) whereas SOX17 shows nuclear reactivity in seminoma but not in embryonal carcinoma.
Differentialexpression of SOX17 and SOX2 in germ cells and stem cells has biological and clinical implications.
Differential expression of SOX2 and SOX17 in testicular germ cell tumors.
8 cytoplasmic, calcineurin-dependent 2 599590 SOX17 SRY (sex determining region Y)-box 1.
Global analysis of CpG island hypermethylation and gene expression in colorectal cancer cell lines has revealed that SOX17 gene silencing is associated with DNAhypermethylation (17), and SOX17 plays a tumor suppressor role through suppression of Wnt signaling (18).
We also investigated whether SOX17 promoter methylation in CTCs was associated with the methylation pattern of this gene in matched cfDNA isolated from the plasma of patients with breast cancer.
We evaluated SOX17 promoter methylation by using real-time methylation-specific PCR (MSP) in primary breast cancer formalin-fixed paraffin-embedded (FFPE) tissues, CTCs isolated from peripheral blood of patients with breast cancer, cfDNA isolated from corresponding plasma of the same patents with breast cancer, and samples from a control population.
SOX17 gene silencing is associated with DNA hypermethylation of a C-phosphate-G (CpG) island located in the promoter region (29).
The CST6, BRMS1 , and SOX17 tumor suppressors were selected because their epigenetic inactivation has been causally associated with cancer.
The analytical sensitivity and specificity of the MSP assays for BRMS1 and SOX17 promoter methylation have been evaluated (26, 29, 33).