FAM111B dysregulation promotes malignancy in fibrosarcoma and POIKTMP and a low-cost method for its mutation screening

• DOI: 10.1016/j.ctarc.2022.100679
• Publication Date: 2023-01-02T06:54:46Z
• Authors: Cenza Rhoda; Falone Sunda; Elvis Kidzeru; Nonhlanhla P. Khu...; Afolake Arowolo
• Keywords: HT1080

Mutations in the uncharacterised human FAM111B gene are associated with POIKTMP, a rare multi-organ fibrosing disease. Recent studies also reported overexpression of specific cancers. Moreover, mutation screening may prove expensive under-resourced facilities. Therefore, this study investigated its cellular function and dysfunction described an inexpensive method. expression was assessed silico validated vitro cell lines primary skin fibroblasts from South African POIKTMP-patient heterozygous mutation: NM_198947.4: c.1861T>G (p. Tyr621Asp or Y621D) by qPCR western blot. The studied HT1080 using various cell-based functional assays, Y621D genotyped PCR-RFLP. Expression showed upregulated mRNA protein cancer cells. High robust nuclear localization occurred HT1080. Additionally, data assays indicated that led to upregulation migration, decreased apoptosis, modulatory effects on proliferation. similar migration but minimal impact apoptosis. were markedly downregulated (p ≤ 0.05) POIKTMP-patient's fibroblasts. PCR-RFLP method successfully mutation. is cancer-associated protein: Its modulation mutations contribute malignancy cancers POIKTMP/fibrosis poor clinical outcomes represents viable prognostic marker therapeutic target. Furthermore, could valuable tool for validation resource-constrained laboratories.