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Originally published in Science Express on 21 October 2004
Science 26 November 2004:
Vol. 306. no. 5701, pp. 1553 - 1554
DOI: 10.1126/science.1100522

Reports

Compensated Deleterious Mutations in Insect Genomes

Rob J. Kulathinal,1 Brian R. Bettencourt,2 Daniel L. Hartl1*

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 Drosophila melanogaster become fixed via epistasis in other Dipteran genomes. Overall divergence at pathogenic amino acid sites is reduced. However, ~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 that allows compensated amino acid substitutions to become rapidly fixed in taxa with large populations.

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. E-mail: dhartl{at}oeb.harvard.edu

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