Association of orthodenticle with natural variation for early embryonic patterning in Drosophila melanogaster

Lisa M. Goering, Priscilla K. Hunt, Cassandra Heighington, Christopher Busick, Pleuni S. Pennings, Joachim Hermisson, Sudhir Kumar, Greg Gibson

Research output: Contribution to journalArticlepeer-review

8 Scopus citations


Although it is well established that cis-acting regulatory variation contributes to morphological evolution between species, few concrete examples of polymorphism affecting developmental patterning within species have been demonstrated. Early embryogenesis in Drosophila is initiated by a gradient of Bicoid morphogen activity that results in differential expression of multiple target genes. In a screen for genetic variation affecting this process, we surveyed 96 wild-type lines of Drosophila melanogaster for polymorphisms in binding sites within 16 Bicoid cis-regulatory response elements. One common polymorphism in the orthodenticle (otd) early head enhancer is associated with a complex series of indels/substitutions that define two distinct haplotypes. The middle region of this enhancer exhibits an unusual pattern of nucleotide diversity that does not easily fit into standard models of selection and demography. Population Gene Expression Maps, generated by extracting binary expression profiles from normalized embryo images, revealed a ventral reduction of otd transcript abundance in one of the haplotypes that was recapitulated in expression of transgenic constructs containing the two alleles. We thus demonstrate that even a process as robust as early developmental patterning is affected by standing genetic variation, intriguingly involving otd, whose morphogenetic function bicoid is thought to have displaced during dipteran evolution.

Original languageEnglish (US)
Pages (from-to)841-854
Number of pages14
JournalJournal of Experimental Zoology Part B: Molecular and Developmental Evolution
Issue number8
StatePublished - Dec 2009

ASJC Scopus subject areas

  • Ecology, Evolution, Behavior and Systematics
  • Molecular Medicine
  • Animal Science and Zoology
  • Genetics
  • Developmental Biology


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