Oncogenic roles of young human de novo genes and their potential as neoantigens in cancer immunotherapy.

ABSTRACT: Young human de novo genes, recently emerging from non-coding regions, are expected to contribute to human-specific traits and diseases. However, systematic explorations of this connection have been lacking. Here, we report 37 recently originated de novo genes in humans, with their evolution and characteristics defined within an updated genomic context. The expression of these genes is significantly upregulated and temporospatially expanded in tumors, partially associated with extrachromosomal DNA amplification. Depletion of 57.1% of these genes suppresses tumor cell proliferation, underscoring their roles in tumorigenesis. As a proof of concept, we developed mRNA vaccines expressing ELFN1-AS1 and TYMSOS-young genes specifically expressed during early development but reactivated exclusively

SUBMITTER: Xiao C 

PROVIDER: S-EPMC12534706 | biostudies-literature | 2025 Sep

REPOSITORIES: biostudies-literature