Pseudogenes can result from mutations in a gene whose product is not needed for the survival of the organism. Although not protein-coding, the DNA of pseudogenes may be functional. It may be similar to other kinds of non-coding DNA which have a regulatory role.
Pseudogenes are generally thought of as the last stop for genomic material that is to be removed from the genome, so they are often labeled as junk DNA. Pseudogenes contain fascinating biological and evolutionary histories in their sequences. This is due to a pseudogene's shared ancestry with a functional gene. In the same way that Darwin thought of two species as having a shared common ancestry followed by millions of years of evolutionary divergence (see speciation), a pseudogene and its associated functional gene also share a common ancestor and have diverged as separate genetic entities over millions of years.
- Vanin EF (1985). "Processed pseudogenes: characteristics and evolution". Annu. Rev. Genet. 19: 253–72. doi:10.1146/annurev.ge.19.120185.001345. PMID 3909943.
- Jacq C; Miller J.R. Brownlee G.G. (September 1977). "A pseudogene structure in 5S DNA of Xenopus laevis". Cell. 12 (1): 109–20. doi:10.1016/0092-8674(77)90189-1. PMID 561661.
- Poliseno L (2010). "A coding-independent function of gene and pseudogene mRNAs regulates tumour biology". Nature. 465: 1033–1038. doi:10.1038/nature09144. PMC 3206313. PMID 20577206.
- Herron, Jon C; Freeman, Scott (2007). Evolutionary analysis. Upper Saddle River, NJ: 4th ed, Pearson Prentice Hall. ISBN 0-13-227584-8.CS1 maint: multiple names: authors list (link) 
- Zheng D. et al 2007. Pseudogenes in the ENCODE regions: Consensus annotation, analysis of transcription, and evolution. Genome Res. 17 (6): 839–51.