English (United Kingdom)

https://curated-unify.zendy.io/wp-json/zendy-region/v1/featured_content/oa?rat=en

https://curated-unify.zendy.io/wp-json/zendy-region/v1/highlighted_journal/

Global: Zendy Plus annual

Presents the access of premium content as premium feature

Premium Content

Presents the keyphrase highlighting as premium feature

Keyphrase Highlighting

Presents the summarisation as premium feature

Summarisation

Insights

Presents the pdf analysis as premium feature

PDF Analysis

Presents the zaia usage as premium feature

ZAIA

Global: Zendy Tools annual

Global: Zendy Free Plan

Global: Zendy Tools monthly

Global: Zendy Plus monthly

PBOV1  is a known human protein-coding gene with an uncharacterized function. We have previously found that  PBOV1  lacks orthologs in non-primate genomes and is expressed in a wide range of tumor types. Here we report that  PBOV1  protein-coding sequence is human-specific and has originated  de novo  in the primate evolution through a series of frame-shift and stop codon mutations. We profiled  PBOV1  expression in multiple cancer and normal tissue samples and found that it was expressed in 19 out of 34 tumors of various origins but completely lacked expression in any of the normal adult or fetal human tissues. We found that, unlike the cancer/testis antigens that are typically controlled by CpG island-containing promoters,  PBOV1  was expressed from a GC-poor TATA-containing promoter which was not influenced by CpG demethylation and was inactive in testis. Our analysis of public microarray data suggests that  PBOV1  activation in tumors could be dependent on the Hedgehog signaling pathway. Despite the recent  de novo  origin and the lack of identifiable functional signatures, a missense SNP in the  PBOV1  coding sequence has been previously associated with an increased risk of breast cancer. Using publicly available microarray datasets, we found that high levels of  PBOV1  expression in breast cancer and glioma samples were significantly associated with a positive outcome of the cancer disease. We also found that  PBOV1  was highly expressed in primary but not in recurrent high-grade gliomas, suggesting the presence of a negative selection against  PBOV1 -expressing cancer cells. Our findings could contribute to the understanding of the mechanisms behind  de novo  gene origin and the possible role of tumors in this process.

PBOV1 Is a Human De Novo Gene with Tumor-Specific Expression That Is Associated with a Positive Clinical Outcome of Cancer