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First published online July 14, 2003; 10.1105/tpc.012526

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The Plant Cell, Vol. 15, 1795-1806, August 2003, Copyright © 2003,
American Society of Plant Biologists

Contrasting Effects of Selection on Sequence Diversity and Linkage Disequilibrium at Two Phytoene Synthase Loci

Kelly A. Palaisa1,a, Michele Morgante2,b, Mark Williamsb and Antoni Rafalskia,b

a Department of Plant and Soil Sciences, University of Delaware, and Delaware Biotechnology Institute, Newark, Delaware 19716
b DuPont Crop Genetics, Molecular Genetics Group, Newark, Delaware 19711

1 To whom correspondence should be addressed. E-mail kapal918{at}yahoo.com; fax 302-631-2607

We investigated the effects of human selection for yellow endosperm color, representing increased carotenoid content, on two maize genes, the Y1 phytoene synthase and PSY2, a putative second phytoene synthase. Multiple polymorphic sites were identified at Y1 and PSY2 in 75 white and yellow maize inbred lines. Many polymorphic sites showed strong association with the endosperm color phenotype at Y1, but no detectable association was found at PSY2. Nucleotide diversity was equivalent for whites and yellows at PSY2 but was 19-fold less in yellows than in whites at Y1, consistent with the white ancestral state of the gene. The strong sequence haplotype conservation within yellows at Y1 and a significant, negative Tajima's D both verified positive selection for yellow endosperm. We propose that two independent gain-of-function events associated with insertions into the promoter of the Y1 gene and upregulation of expression in endosperm have been incorporated into yellow maize.




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