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Published on: December 26, 2016
Pseudogenes as Biomarkers and Therapeutic Targets in Human Cancers
1Department of Life Sciences, College of Medicine, Health and Life Sciences, Brunel University London, London, UK. Cristina.Sisu@brunel.ac.uk.
Abstract:
Pseudogenes are commonly labeled as "junk DNA" given their perceived nonfunctional status. However, the advent of large-scale genomics projects prompted a revisit of pseudogene biology, highlighting their key functional and regulatory roles in numerous diseases, including cancers. Integrative analyses of cancer data have shown that pseudogenes can be transcribed and even translated, and that pseudogenic DNA, RNA, and proteins can interfere with the activity and function of key protein coding genes, acting as regulators of oncogenes and tumor suppressors. Capitalizing on the available clinical research, we are able to get an insight into the spread and variety of pseudogene biomarker and therapeutic potential. In this chapter, we describe pseudogenes that fulfill their role as diagnostic or prognostic biomarkers, both as unique elements and in collaboration with other genes or pseudogenes. We also report that the majority of prognostic pseudogenes are overexpressed and exert an oncogenic role in colorectal, liver, lung, and gastric cancers. Finally, we highlight a number of pseudogenes that can establish future therapeutic avenues.
Insights
Pseudogenes, once dismissed as "junk DNA," are now recognized for their crucial roles in cancer. Research reveals their potential as diagnostic biomarkers and therapeutic targets, particularly in various solid tumors.
Area of Science:
- Genomics
- Molecular Biology
- Cancer Research
Background:
- Pseudogenes were historically considered non-functional "junk DNA".
- Recent advancements in genomics have revealed significant biological functions for pseudogenes.
- Pseudogenes play critical roles in the pathogenesis and regulation of various diseases, notably cancers.
Purpose of the Study:
- To explore the functional and regulatory roles of pseudogenes in cancer.
- To investigate the potential of pseudogenes as diagnostic and prognostic biomarkers.
- To identify pseudogenes with therapeutic potential for cancer treatment.
Main Methods:
- Integrative analysis of large-scale cancer genomics data.
- Review of clinical research on pseudogene expression and function in cancer.
- Identification and characterization of pseudogenes involved in oncogenesis.
Main Results:
- Pseudogenes can be transcribed and translated, influencing gene activity.
- Pseudogenes act as regulators of oncogenes and tumor suppressors.
- Overexpressed pseudogenes are frequently associated with oncogenic roles in colorectal, liver, lung, and gastric cancers.
Conclusions:
- Pseudogenes possess significant diagnostic and prognostic biomarker potential.
- Pseudogenes can serve as unique biomarkers or in combination with other genetic elements.
- Several pseudogenes represent promising targets for future cancer therapeutic strategies.
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