Originally published as Genetics Published Articles Ahead of Print on July 14, 2005.

Genetics, Vol. 171, 639-653, October 2005, Copyright © 2005
doi:10.1534/genetics.104.038851

Multiple Signatures of Positive Selection Downstream of Notch on the X Chromosome in Drosophila melanogaster

Vanessa Bauer DuMont and Charles F. Aquadro¹

Department of Molecular Biology and Genetics, Cornell University, Ithaca, New York 14853

¹ Corresponding author: Department of Molecular Biology and Genetics, 235 Biotechnology Bldg., Cornell University, Ithaca, NY 14853.
E-mail: cfa1{at}cornell.edu

To identify genomic regions affected by the rapid fixation of beneficial mutations (selective sweeps), we performed a scan of microsatellite variability across the Notch locus region of Drosophila melanogaster. Nine microsatellites spanning 60 kb of the X chromosome were surveyed for variation in one African and three non-African populations of this species. The microsatellites identified an 14-kb window for which we observed relatively low levels of variability and/or a skew in the frequency spectrum toward rare alleles, patterns predicted at regions linked to a selective sweep. DNA sequence polymorphism data were subsequently collected within this 14-kb region for three of the D. melanogaster populations. The sequence data strongly support the initial microsatellite findings; in the non-African populations there is evidence of a recent selective sweep downstream of the Notch locus near or within the open reading frames CG18508 and Fcp3C. In addition, we observe a significant McDonald-Kreitman test result suggesting too many amino acid fixations species wide, presumably due to positive selection, at the unannotated open reading frame CG18508. Thus, we observe within this small genomic region evidence for both recent (skew toward rare alleles in non-African populations) and recurring (amino acid evolution at CG18508) episodes of positive selection.

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