Stepwise Modification of a Modular Enhancer Underlies Adaptation in a Drosophila Population

The evolution of cis regulatory elements (enhancers) of developmentally regulated genes plays a large role in the evolution of animal morphology. However, the mutational path of enhancer evolution--the number, origin, effect, and order of mutations that alter enhancer function--has not been elucidat...

Full description

Saved in:
Bibliographic Details
Published in:Science (American Association for the Advancement of Science) 2009-12, Vol.326 (5960), p.1663-1667
Main Authors: Rebeiz, Mark, Pool, John E, Kassner, Victoria A, Aquadro, Charles F, Carroll, Sean B
Format: Article
Language:English
Subjects:
Abdomen
Adaptation, Biological
Alleles
Animal populations
Animals
Animals, Genetically Modified
Biological Evolution
DNA-Binding Proteins - genetics
Drosophila
Drosophila melanogaster - genetics
Drosophila melanogaster - growth & development
Drosophila melanogaster - physiology
Drosophila Proteins - genetics
Enhancer Elements, Genetic
Evolution
Evolution, Molecular
Evolutionary biology
Evolutionary genetics
Gene Expression Regulation, Developmental
Genetic loci
Genetic mutation
Genetic variation
Genotype & phenotype
Haplotypes
Insects
Molecular Sequence Data
Morphology
Mutation
Phenotypes
Pigmentation
Pigmentation - genetics
Polymorphism, Genetic
Transgenes
Uganda
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:The evolution of cis regulatory elements (enhancers) of developmentally regulated genes plays a large role in the evolution of animal morphology. However, the mutational path of enhancer evolution--the number, origin, effect, and order of mutations that alter enhancer function--has not been elucidated. Here, we localized a suite of substitutions in a modular enhancer of the ebony locus responsible for adaptive melanism in a Ugandan Drosophila population. We show that at least five mutations with varied effects arose recently from a combination of standing variation and new mutations and combined to create an allele of large phenotypic effect. We underscore how enhancers are distinct macromolecular entities, subject to fundamentally different, and generally more relaxed, functional constraints relative to protein sequences.
ISSN:0036-8075
1095-9203
DOI:10.1126/science.1178357