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Originally published as Genetics Published Articles Ahead of Print on March 31, 2005.

Genetics, Vol. 170, 709-718, June 2005, Copyright © 2005
doi:10.1534/genetics.104.036483

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A High-Frequency Null Mutant of an Odorant-Binding Protein Gene, Obp57e, in Drosophila melanogaster

Aya Takahashi*,{dagger},1 and Toshiyuki Takano-Shimizu*,{dagger},{ddagger}

* Division of Population Genetics, National Institute of Genetics, Mishima 411-8540, Japan
{dagger} Department of Genetics, Graduate University for Advanced Studies (Sokendai), Mishima 411-8540, Japan
{ddagger} School of Advanced Sciences, Graduate University for Advanced Studies (Sokendai), Shonan Village, Hayama, Kanagawa 240-0193, Japan

1 Corresponding author: Division of Population Genetics, National Institute of Genetics, 1111 Yata, Mishima 411-8540, Japan.
E-mail: atakahas{at}lab.nig.ac.jp

We have found a null mutant of an odorant-binding protein, Obp57e, in Drosophila melanogaster. This frameshift mutation, which is a 10-bp deletion in the coding region, is at a high frequency in the Kyoto population and is also present in Taiwan and Africa. We have sequenced a 1.5-kb region including the tandemly duplicated gene, Obp57d, from 16 inbred lines sampled in Kyoto, Japan. The analyses showed a peak of nucleotide diversity and strong linkage disequilibrium around this mutation. This pattern suggests an elevated mutation rate or an influence of balancing selection in this region. The level of nucleotide divergence between D. melanogaster and D. simulans does not support the former possibility. Thus, this presence/absence polymorphism may be due to balancing selection, which takes advantage of the relatively weak functional constraint in members of a large gene family. In addition, the Obp57d gene region showed an excess of high-frequency-derived mutants that is consistent with a pattern predicted under positive natural selection.




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