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Quantitative Comparison of cis-Regulatory Element (CRE) Activities in Transgenic Drosophila melanogaster
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Morphological evolution caused by many subtle-effect substitutions in regulatory DNA.

Nicolás Frankel1, Deniz F Erezyilmaz, Alistair P McGregor

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

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|July 2, 2011
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Summary

Evolution of larval morphology in Drosophila sechellia resulted from changes in developmental genes. Multiple single-nucleotide substitutions in a transcriptional enhancer altered gene expression, causing significant morphological differences through non-additive effects.

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Area of Science:

  • Evolutionary developmental biology
  • Genetics
  • Molecular biology

Background:

  • Morphological evolution is driven by changes in developmental genes, but causal mutations are often unknown.
  • The evolution of naked larval cuticle in Drosophila sechellia is linked to changes in transcriptional enhancers of the shavenbaby (svb) gene.

Purpose of the Study:

  • To investigate the specific single-nucleotide substitutions responsible for the evolution of svb enhancers.
  • To quantify the phenotypic effects of these nucleotide substitutions on larval morphology and svb expression.

Main Methods:

  • Functional analysis of a specific svb enhancer through single-nucleotide substitutions.
  • Quantification of phenotypic consequences using a novel functional assay.
  • Analysis of svb expression timing and levels.

Main Results:

  • Multiple single-nucleotide substitutions in an svb enhancer altered its function.
  • Each substitution had a small phenotypic effect, but collectively they caused significant morphological evolution.
  • Substitutions exhibited non-additive effects on the phenotype.

Conclusions:

  • Individual nucleotide changes within transcriptional enhancers can drive significant morphological evolution.
  • The evolution of complex traits can result from the accumulation of small-effect mutations with non-additive interactions.
  • Provides high-resolution insights into the genetic basis of evolutionary change.