【SureSelect WES 應用 - 2】SureSelect 協助尋找病毒感染後的 exon 突變

T細胞淋巴瘤 STAT3基因的罕見突變位 ( DNA binding domain )

利用 SureSelect 分析 HIV-1 原病毒感染後的 T 細胞淋巴瘤,發現 STAT3 基因的 DNA binding domain 存在 3 個胺基酸 ( VIK ) 插入的 insertion,暗示可能的上調控機制。

     Sci Adv. 2021 Oct; 7(42): eabi8795.

Figure S5. In lymphoma sample 1A, there is a 9 nucleotide insertion in the STAT3 gene in the allele that is activated by an HIV provirus. Panel A. The 9 nucleotide insertion leads to a three amino acid insertion in the portion of STAT3 that encodes the DNA binding domain. Panel B. The diagram shows the two forms of the STAT3 protein, and their domains. The position of the VIK insertion is marked with an arrow, as are the sites where the proteins are phosphorylated.