The evolutionary significance of cis-regulatory mutations

Wray, Gregory A.

doi:10.1038/nrg2063

Cited by 1,403 publications

(1,345 citation statements)

References 94 publications

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“…As discussed in Section 3.3, one way in which a pleiotropic gene can subdivide its functions is through modular cisregulation. Most genes have multiple, independent cis-regulatory elements that control spatial and temporal gene expression; mutations in one element can have no effect on functions mediated by the other element [44][45][46][47]. A similar situation occurs within coding regions when the protein has trait-specific domains [84].…”

Section: Potential Consequences Of Pleiotropy For Evolutionary Diversmentioning

confidence: 98%

“…Changing the binding sites for patterning factors in cis-regulatory regions of more specialized effector genes is assumed to be less pleiotropic than changing the transcription factor genes themselves. This is because of the modular architecture of cis-regulatory regions, which have discrete elements controlling transcription in different spatiotemporal domains [44][45][46][47]. However, cis-regulatory changes in patterning genes encoding transcription factors can still affect expression of the transcription factor's target genes.…”

Section: Diversity Within a Developmental Pathwaymentioning

confidence: 99%

“…Such studies will reveal, for example, whether the predominant role of cisregulatory evolution observed for Drosophila melanin patterning is a general feature of insect pigmentation divergence. Studies of morphological traits controlled by pleiotropic developmental pathways in a variety of organisms suggest cis-regulatory changes are indeed a pervasive source of phenotypic diversification (examples in [87][88][89][90]; recent reviews [45,46]), while studies of variation in traits controlled by developmental systems with less pleiotropysuch as melanin synthesis activated by the dedicated Melanocortin 1 receptor in specialized vertebrate cells -suggest changes in amino acid sequence can be common as well [91].…”

Section: The Promise Of Pigmentationmentioning

confidence: 99%

See 2 more Smart Citations

Development and evolution of insect pigmentation: Genetic mechanisms and the potential consequences of pleiotropy

Wittkopp

Beldade

2009

Seminars in Cell & Developmental Biology

298

291

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a b s t r a c tInsect pigmentation is a premier model system in evolutionary and developmental biology. It has been at the heart of classical studies as well as recent breakthroughs. In insects, pigments are produced by epidermal cells through a developmental process that includes pigment patterning and synthesis. Many aspects of this process also impact other phenotypes, including behavior and immunity. This review discusses recent work on the development and evolution of insect pigmentation, with a focus on pleiotropy and its effects on color pattern diversification.

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Section: Potential Consequences Of Pleiotropy For Evolutionary Diversmentioning

confidence: 98%

Section: Diversity Within a Developmental Pathwaymentioning

confidence: 99%

Section: The Promise Of Pigmentationmentioning

confidence: 99%

See 1 more Smart Citation

Development and evolution of insect pigmentation: Genetic mechanisms and the potential consequences of pleiotropy

Wittkopp

Beldade

2009

Seminars in Cell & Developmental Biology

298

291

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“…King and Wilson (1975) [90] proposed that the key to understand the differences among species is not in the gene-coding, but in the DNA region that regulate the levels, locations, and time of gene expression. An important tenet of evolutionary developmental biology ("evo devo") is that cis-regulatory mutations are more important than structural mutations in phenotypic evolution [91], although it is also argued that adaptations likely involve a mixture of structural and cis-regulatory changes [92]. Here, the hypothesized increase of gene differentiation between ecotypes along the three different molecular levels could indicate a certain influence of the regulatory elements affecting to gene expression, but such hypothesis will need an independent corroboration.…”

Section: Discussionmentioning

confidence: 99%

Insights into the role of differential gene expression on the ecological adaptation of the snail Littorina saxatilis

Martínez‐Fernández

Bernatchez²,

Rolán‐Alvarez

et al. 2010

BMC Evol Biol

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BackgroundIn the past 40 years, there has been increasing acceptance that variation in levels of gene expression represents a major source of evolutionary novelty. Gene expression divergence is therefore likely to be involved in the emergence of incipient species, namely, in a context of adaptive radiation. In this study, a genome-wide expression profiling approach (cDNA-AFLP), validated by quantitative real-time polymerase chain reaction (qPCR) were used to get insights into the role of differential gene expression on the ecological adaptation of the marine snail Littorina saxatilis. This gastropod displays two sympatric ecotypes (RB and SU) which are becoming one of the best studied systems for ecological speciation.ResultsAmong the 99 transcripts shared between ecotypes, 12.12% showed significant differential expression. At least 4% of these transcripts still displayed significant differences after correction for multiple tests, highlighting that gene expression can differ considerably between subpopulations adapted to alternative habitats in the face of gene flow. One of the transcripts identified was Cytochrome c Oxidase subunit I (COI). In addition, 6 possible reference genes were validated to normalize and confirm this result using qPCR. α-Tubulin and histone H3.3 showed the more stable expression levels, being therefore chosen as the best option for normalization. The qPCR analysis confirmed a higher COI expression in SU individuals.ConclusionsAt least 4% of the transcriptome studied is being differentially expressed between ecotypes living in alternative habitats, even when gene flow is still substantial between ecotypes. We could identify a candidate transcript of such ecotype differentiation: Cytochrome c Oxidase Subunit I (COI), a mitochondrial gene involved in energy metabolism. Quantitative PCR was used to confirm the differences found in COI and its over-expression in the SU ecotype. Interestingly, COI is involved in the oxidative phosphorylation, suggesting an enhanced mitochondrial gene expression (or increased number of mitochondria) to improve energy supply in the ecotype subjected to the strongest wave action.

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“…This modularity, in turn, allowed the local, developmentally autonomous embryonic structures to accommodate genetic and molecular variations without altering the developmental events within adjoining compartments (Carroll, 2005;Wagner et al, 2007). This regionally restricted accumulation of variations without affecting the general body plan conferred on animals the ability to experience morphological innovations leading to great morphological diversity (Wray, 2007).…”

Section: Mechanisms To Generate Morphologi-cal Complexitymentioning

confidence: 99%

Evolution of vertebrate appendicular structures: Insight from genetic and palaeontological data

Abbasi

2011

Developmental Dynamics

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The new body of evidence from fossils and comparative-developmental analysis of subset of appendicular patterning genes has revealed that limb elements seen in tetrapods are assembled in fish fin over evolutionary time. However, despite of deep homology in basic structure and underlying developmental system, there remains a large morphological gap between distal elements of tetrapod limb and distal fin skeleton of tetrapodomorph fish. Understanding the genetic basis of major transformations in distal-limb morphology is the next challenge for evolutionary developmental biologists. Here by integrating data from fossils, comparative-developmental and genetic studies, models are proposed describing the evolution of cis-regulatory elements as a basis for diversification of appendicular architecture. Instead of emphasizing the subset of developmental genes, for instance Hoxd genes, the focus here is on the significance of elucidating cis-regulatory elements for multiple other key molecular players of limb/fin development and genetic/ molecular interactions among them, for a better understanding of the developmental and genetic basis of limb evolution. Developmental Dynamics 240:1005-1016,

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The evolutionary significance of cis-regulatory mutations

Cited by 1,403 publications

References 94 publications

Development and evolution of insect pigmentation: Genetic mechanisms and the potential consequences of pleiotropy

Development and evolution of insect pigmentation: Genetic mechanisms and the potential consequences of pleiotropy

Insights into the role of differential gene expression on the ecological adaptation of the snail Littorina saxatilis

Evolution of vertebrate appendicular structures: Insight from genetic and palaeontological data

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