title: Evolution of cichlid vision via trans-regulatory divergence.
abstract: BACKGROUND
  Phenotypic evolution may occur through mutations that affect either the structure or expression of protein-coding genes. Although the evolution of color vision has historically been attributed to structural mutations within the opsin genes, recent research has shown that opsin regulatory mutations can also tune photoreceptor sensitivity and color vision. Visual sensitivity in African cichlid fishes varies as a result of the differential expression of seven opsin genes. We crossed cichlid species that express different opsin gene sets and scanned their genome for expression Quantitative Trait Loci (eQTL) responsible for these differences. Our results shed light on the role that different structural, cis-, and trans-regulatory mutations play in the evolution of color vision.
  
  
  RESULTS
  We identified 11 eQTL that contribute to the divergent expression of five opsin genes. On three linkage groups, several eQTL formed regulatory "hotspots" associated with the expression of multiple opsins. Importantly, however, the majority of the eQTL we identified (8/11 or 73%) occur on linkage groups located trans to the opsin genes, suggesting that cichlid color vision has evolved primarily via trans-regulatory divergence. By modeling the impact of just two of these trans-regulatory eQTL, we show that opsin regulatory mutations can alter cichlid photoreceptor sensitivity and color vision at least as much as opsin structural mutations can.
  
  
  CONCLUSIONS
  Combined with previous work, we demonstrate that the evolution of cichlid color vision results from the interplay of structural, cis-, and especially trans-regulatory loci. Although there are numerous examples of structural and cis-regulatory mutations that contribute to phenotypic evolution, our results suggest that trans-regulatory mutations could contribute to phenotypic divergence more commonly than previously expected, especially in systems like color vision, where compensatory changes in the expression of multiple genes are required in order to produce functional phenotypes.
authors.affiliation: Department of Biology, University of Maryland, College Park, MD 20742, USA. koquin@umd.edu
authors.forename: Kelly E
authors.initials: KE
authors.lastname: O'Quin
authors.forename: Jane E
authors.initials: JE
authors.lastname: Schulte
authors.forename: Zil
authors.initials: Z
authors.lastname: Patel
authors.forename: Nadia
authors.initials: N
authors.lastname: Kahn
authors.forename: Zan
authors.initials: Z
authors.lastname: Naseer
authors.forename: Helena
authors.initials: H
authors.lastname: Wang
authors.forename: Matthew A
authors.initials: MA
authors.lastname: Conte
authors.forename: Karen L
authors.initials: KL
authors.lastname: Carleton
mesh_terms: D000818:Animals; D002874:Chromosome Mapping; D023681:Cichlids / Q000235:genetics* / Q000502:physiology; D055253:Color Vision / Q000235:genetics*; D003433:Crosses, Genetic; D004252:DNA Mutational Analysis; D019143:Evolution, Molecular; D053263:Gene Regulatory Networks; D008040:Genetic Linkage; D055355:Opsins / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D040641:Quantitative Trait Loci; D012045:Regulatory Sequences, Nucleic Acid
chemical_list: D055355:Opsins