Article
A missense SNP in the tumor suppressor SETD2 reduces H3K36me3 and mitotic spindle integrity in Drosophila.
Genetics - 3 Apr 2024
Brockett Jovan S, Manalo Tad, Zein-Sabatto Hala, Lee Jina, Fang Junnan, Chu Philip, Feng Harry, Patil Dattatraya, Davidson Priscilla, Ogan Kenneth, Master Viraj A, Pattaras John G, Roberts David L, Bergquist Sharon H, Reyna Matthew A, Petros John A, Lerit Dorothy A, Arnold Rebecca S
Abstract excerpt
Mutations in SETD2 are among the most prevalent drivers of renal cell carcinoma (RCC). We identified a novel single nucleotide polymorphism (SNP) in SETD2, E902Q, within a subset of RCC patients, which manifests as both an inherited or tumor-associated somatic mutation. To determine if the SNP is biologically functional, we used CRISPR-based genome editing to generate the orthologous mutation within the...
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