Theranostics 2020; 10(4):1479-1499. doi:10.7150/thno.40659 This issue


Re-recognition of pseudogenes: From molecular to clinical applications

Xu Chen1, Lin Wan2, Wei Wang1, Wen-Jin Xi1, An-Gang Yang1✉, Tao Wang3✉

1. State Key Laboratory of Cancer Biology, Department of Immunology, Fourth Military Medical University, Xi'an, Shaanxi, 710032, P.R. China.
2. Department of Hematology and Oncology, Children's Hospital of Soochow University, Suzhou, Jiangsu, 215025, P.R. China.
3. Department of Medical Genetics and Developmental Biology, Fourth Military Medical University, Xi'an, Shaanxi, 710032, P.R. China.

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Chen X, Wan L, Wang W, Xi WJ, Yang AG, Wang T. Re-recognition of pseudogenes: From molecular to clinical applications. Theranostics 2020; 10(4):1479-1499. doi:10.7150/thno.40659. Available from

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Graphic abstract

Pseudogenes were initially regarded as “nonfunctional” genomic elements that did not have protein-coding abilities due to several endogenous inactivating mutations. Although pseudogenes are widely expressed in prokaryotes and eukaryotes, for decades, they have been largely ignored and classified as gene “junk” or “relics”. With the widespread availability of high-throughput sequencing analysis, especially omics technologies, knowledge concerning pseudogenes has substantially increased. Pseudogenes are evolutionarily conserved and derive primarily from a mutation or retrotransposon, conferring the pseudogene with a “gene repository” role to store and expand genetic information. In contrast to previous notions, pseudogenes have a variety of functions at the DNA, RNA and protein levels for broadly participating in gene regulation to influence the development and progression of certain diseases, especially cancer. Indeed, some pseudogenes have been proven to encode proteins, strongly contradicting their “trash” identification, and have been confirmed to have tissue-specific and disease subtype-specific expression, indicating their own value in disease diagnosis. Moreover, pseudogenes have been correlated with the life expectancy of patients and exhibit great potential for future use in disease treatment, suggesting that they are promising biomarkers and therapeutic targets for clinical applications. In this review, we summarize the natural properties, functions, disease involvement and clinical value of pseudogenes. Although our knowledge of pseudogenes remains nascent, this field deserves more attention and deeper exploration.

Keywords: pseudogene, classification, function, diagnosis, prognosis, therapeutics