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Published Online October 21, 2004
Science DOI: 10.1126/science.1100522

Reports

Submitted on May 20, 2004
Accepted on September 22, 2004

Compensated Deleterious Mutations in Insect Genomes

Rob J. Kulathinal 1, Brian R. Bettencourt 2, Daniel L. Hartl 1*

1 Department of Organismic and Evolutionary Biology, Harvard University, Cambridge, MA 02138, USA.
2 Department of Molecular and Cellular Biology, Harvard University, Cambridge, MA 02138, USA.

* To whom correspondence should be addressed.
Daniel L. Hartl , E-mail: dhartl{at}oeb.harvard.edu

Relatively little is known about the importance of amino acid interactions in protein and phenotypic evolution. Here we examine whether mutations that are pathogenic in D. melanogaster become fixed via epistasis in other Dipteran genomes. Overall divergence at pathogenic amino acid sites is reduced. However, approximately ~10% of the substitutions at these sites carry the exact same pathogenic amino acid found in D. melanogaster mutants. Hence compensatory mutation(s) must have evolved. Surprisingly, the fraction 10% is not affected by phylogenetic distance. These results support a selection-driven process allowing compensated amino acid substitutions to become fixed in taxa with large populations.


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Science. ISSN 0036-8075 (print), 1095-9203 (online)