What are pseudogenes?

Pseudogenes are genomic DNA sequences similar to coding genes but without coding potential. They are regarded as defunct relatives of functional genes.

What causes pseudogenes to arise?

There are two accepted processes during which pseudogenes may arise:



Click here for a graphical illustration of this definition.

Why are pseudogenes interesting?


In addition, due to the high sequence identity to their functional paralogs, pseudogenes introduce artifacts into multiple steps of next generation sequencing analyses, such as PCR/target enrichment and reads mapping. It is hence necessary to differentiate the signals from each origin to derive the true results. Also, recently it has been found that some pseudogenes are actually functional through their RNA products, which naturally leads to the question that whether these findings are sporadic exceptions, or reflect a more general mechanism in organisms.
How can a pseudogene be identified computationally?



Relating pseudogenes to known protein structures



Our analyses


More recently, as part of ENCODE and modENCODE contria, we focus on comparative analysis of pseudogene annotation and activitiy across human and other model organisms like mouse, worm and fly. We also study the pseudogenization events in individual genomes.


PI: Dr. Mark Gerstein