ArticlePloS one2013
PBOV1 is a human de novo gene with tumor-specific expression that is associated with a positive clinical outcome of cancer.
Article in PloS one, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers.
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Who cites it
26 citing papers in PubMed, 48 citations in OpenAlex.
- Emergence and Tandem Repeat-Mediated Elongation of a Translated De Novo Open Reading Frame in Human Oncogenic RNA Gene VPS9D1-AS1 (MYU).Genome biology and evolution · 2026Article
- Orphan and de novo Genes in Fungi and Animals: Identification, Origins and Functions.Genome biology and evolution · 2025Review
- Oncogenic roles of young human de novo genes and their potential as neoantigens in cancer immunotherapy.Cell genomics · 2025Article
- A new cancer/testis long noncoding RNA, the OTP-AS1 RNA.Scientific reports · 2024Article
- Evolution and implications of de novo genes in humans.Nature ecology & evolution · 2023Review
- Review
- The Theory ofGenes · 2022Article
- MicroRNA-27a-5p Inhibits Proliferation, Migration, and Invasion and Promotes Apoptosis of Wilms' Tumor Cell by Targeting PBOV1.Molecular and cellular biology · 2022Article
- Mammalian tumor-like organs. 1. The role of tumor-like normal organs and atypical tumor organs in the evolution of development (carcino-evo-devo).Infectious agents and cancer · 2022Review
- Stochastic Gain and Loss of Novel Transcribed Open Reading Frames in the Human Lineage.Genome biology and evolution · 2020Article
- Oncogenes, tumor suppressor and differentiation genes represent the oldest human gene classes and evolve concurrently.Scientific reports · 2019Article
- De novo gene birth.PLoS genetics · 2019Article
- Evolutionarily novel genes are expressed in transgenic fish tumors and their orthologs are involved in development of progressive traits in humans.Infectious agents and cancer · 2019Article
- lncRNA NTT/PBOV1 Axis Promotes Monocyte Differentiation and Is Elevated in Rheumatoid Arthritis.International journal of molecular sciences · 2018Article
- Association between the overexpression of PBOV1 and the prognosis of patients with hepatocellular carcinoma.Oncology letters · 2018Article
- Nanomedicines reveal how PBOV1 promotes hepatocellular carcinoma for effective gene therapy.Nature communications · 2018Article
- PBOV1 as a potential biomarker for more advanced prostate cancer based on protein and digital histomorphometric analysis.The Prostate · 2018Article
- miR-431-5p alters the epithelial-to-mesenchymal transition markers by targetingOncoTargets and therapy · 2018Article
- New Genes and Functional Innovation in Mammals.Genome biology and evolution · 2017Article
- Open questions in the study of de novo genes: what, how and why.Nature reviews. Genetics · 2016Review
Corrections and comments
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Authors and funding
5 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
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.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.