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Abstract
Annual Review of Genetics
Vol. 37: 123-151 (Volume publication date December 2003)
(doi:10.1146/annurev.genet.37.040103.103949)
First published online as a Review in Advance on June 25, 2003
PSEUDOGENES: Are They “Junk” or Functional DNA?

Evgeniy S. Balakirev1,2 and ­ Francisco J. Ayala1 ­
1Department of Ecology and Evolutionary Biology, University of California, Irvine, California 92697-2525; email:
2Institute of Marine Biology, Vladivostok 690041,
Russia and Academy of Ecology, Marine Biology, and Biotechnology, Far Eastern State University, Vladivostok 690600, Russia; email:

Abstract  Pseudogenes have been defined as nonfunctional sequences of genomic DNA originally derived from functional genes. It is therefore assumed that all pseudogene mutations are selectively neutral and have equal probability to become fixed in the population. Rather, pseudogenes that have been suitably investigated often exhibit functional roles, such as gene expression, gene regulation, generation of genetic (antibody, antigenic, and other) diversity. Pseudogenes are involved in gene conversion or recombination with functional genes. Pseudogenes exhibit evolutionary conservation of gene sequence, reduced nucleotide variability, excess synonymous over nonsynonymous nucleotide polymorphism, and other features that are expected in genes or DNA sequences that have functional roles. We first review the Drosophila literature and then extend the discussion to the various functional features identified in the pseudogenes of other organisms. A pseudogene that has arisen by duplication or retroposition may, at first, not be subject to natural selection if the source gene remains functional. Mutant alleles that incorporate new functions may, nevertheless, be favored by natural selection and will have enhanced probability of becoming fixed in the population. We agree with the proposal that pseudogenes be considered as potogenes, i.e., DNA sequences with a potentiality for becoming new genes.

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Authors:
Evgeniy S. Balakirev
Francisco J. Ayala
Keywords:
neutral evolution
evolutionary rate
DNA polymorphism
Drosophila
potogene

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