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Pseudogene in cancer: real functions and promising signature
  1. Lu Xiao-Jie1,
  2. Gao Ai-Mei2,
  3. Ji Li-Juan3,
  4. Xu Jiang3
  1. 1Department of Gastroenterology, Shanghai East Hospital, Tongji University, School of Medicine, Shanghai, China
  2. 2Department of Pharmacy, The Fifth People's Hospital of Shanghai, Fudan University, Shanghai, China
  3. 3Department of Rehabilitation, The Second People's Hospital of Huai'an, Huai'an, China
  1. Correspondence to Ji Li-Juan, Department of Rehabilitation, The Second People's Hospital of Huai'an, Huai'an 223301, China; (, or Xu Jiang (


Pseudogenes were initially regarded as non-functional genomic fossils resulted from inactivating gene mutations during evolution. However, later studies revealed that they play a plethora of roles at multiple levels (DNA, RNA and/or protein) in diverse physiological and pathological processes, especially in cancer, both parental-gene-dependently and parental-gene-independently. Pseudogenes can interact with parental genes or other gene loci, leading to alteration in their sequences and/or transcriptional activities. Pseudogene-derived RNAs play multifaceted roles in post-transcriptional regulation as antisense RNAs, endogenous small-interference RNAs, competing endogenous RNAs and so on. Pseudogenic proteins can mirror, mimic or interfere with the functions of their parental counterparts. Herein, we discuss the general aspects (origination, classification, identification) of pseudogenes, focus on their multiple functions in cancer pathogenesis and prospect the potentials they hold as molecular signatures assisting in cancer reclassification and tailored therapy.

  • Oncology
  • Cell biology
  • Clinical genetics
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