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Morphological evolution through multiple cis-regulatory mutations at a single gene.

Alistair P McGregor1, Virginie Orgogozo, Isabelle Delon

  • 1Department of Ecology and Evolutionary Biology, Princeton University, Princeton, New Jersey 08544, USA.

Nature
|July 17, 2007
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Summary
This summary is machine-generated.

Evolutionary biology explores species differences. This study reveals that accumulated small genetic changes at a single gene, shavenbaby (svb), drive significant morphological evolution in Drosophila.

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Area of Science:

  • Evolutionary biology
  • Developmental genetics
  • Genomics

Background:

  • Understanding the genetic basis of species differences is a key evolutionary biology question.
  • The neo-Darwinian view suggests cumulative small genetic changes, while alternative theories propose large-effect mutations in developmental genes.
  • Few specific genes causing interspecies morphological divergence are identified.

Purpose of the Study:

  • Investigate the genetic underpinnings of a trichome pattern difference between Drosophila species.
  • Determine if cis-regulatory changes in the shavenbaby (svb) gene are responsible for the observed morphological divergence.
  • Test the hypothesis that multiple small-effect mutations at a single locus contribute to species-specific phenotypes.

Main Methods:

  • Identified and characterized three enhancers of the svb gene in Drosophila melanogaster.
  • Compared the activity of homologous enhancers from Drosophila sechellia to assess changes in gene regulation.
  • Performed high-resolution interspecific genetic mapping to pinpoint causative genetic regions.
  • Conducted functional analysis using intragenic recombinants to validate the role of identified enhancers.

Main Results:

  • Three distinct enhancers of svb in D. melanogaster were identified, recapitulating endogenous expression patterns.
  • Homologous enhancers from D. sechellia showed modified expression patterns consistent with the evolved phenotype.
  • Genetic mapping revealed that independent regions upstream of svb, overlapping these enhancers, are collectively necessary for the D. sechellia trichome pattern.
  • The study demonstrates that multiple cis-regulatory changes at the svb locus contribute to the morphological difference.

Conclusions:

  • The evolution of the D. sechellia trichome pattern is driven by the accumulation of multiple small-effect mutations within the svb gene locus.
  • This finding supports the idea that significant morphological differences between species can arise from the cumulative effect of numerous minor genetic alterations at specific genes.
  • The study provides a concrete example of microevolutionary changes at a single gene leading to macroevolutionary differences.