Originally published as Genetics Published Articles Ahead of Print on November 1, 2004.

Genetics, Vol. 169, 1985-1996, April 2005, Copyright © 2005
doi:10.1534/genetics.104.035329

High Genetic Diversity in the Chemoreceptor Superfamily of Caenorhabditis elegans

Mary K. Stewart, Nathaniel L. Clark, Gennifer Merrihew, Evan M. Galloway and James H. Thomas1

Department of Genome Sciences, University of Washington, Seattle, Washington 98195

1 Corresponding author: Department of Genome Sciences, Box 357730, University of Washington, Seattle, WA 98915.
E-mail: jht{at}u.washington.edu

We investigated genetic polymorphism in the Caenorhabditis elegans srh and str chemoreceptor gene families, each of which consists of ~300 genes encoding seven-pass G-protein-coupled receptors. Almost one-third of the genes in each family are annotated as pseudogenes because of apparent functional defects in N2, the sequenced wild-type strain of C. elegans. More than half of these "pseudogenes" have only one apparent defect, usually a stop codon or deletion. We sequenced the defective region for 31 such genes in 22 wild isolates of C. elegans. For 10 of the 31 genes, we found an apparently functional allele in one or more wild isolates, suggesting that these are not pseudogenes but instead functional genes with a defective allele in N2. We suggest the term "flatliner" to describe genes whose functional vs. pseudogene status is unclear. Investigations of flatliner gene positions, dN/dS ratios, and phylogenetic trees indicate that they are not readily distinguished from functional genes in N2. We also report striking heterogeneity in the frequency of other polymorphisms among these genes. Finally, the large majority of polymorphism was found in just two strains from geographically isolated islands, Hawaii and Madeira. This suggests that our sampling of wild diversity in C. elegans is narrow and that identification of additional strains from similarly isolated regions will greatly expand the diversity available for study.




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