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Much of the phenotypic variation that is observed within and between species is the result of differences in gene regulation: specifically when, where and how much the genes are expressed. Given the central role of the regulation of gene expression in connecting genotype to phenotype, it is important to understand how selection acts on gene regulation and what is the result at the organism and species levels. Although genome analysis illuminates much about the evolution of genetic sequences, evolutionary changes in gene expression are more difficult to reconstruct. The advent of new methods for examining gene expression levels and their mechanistic basis is enabling us to investigate the evolution of the transcriptome itself and how it aligns to both protein-coding and non-coding genetic sequences. For example, single-cell transcriptomics methods are illuminating the divergence of gene expression between different tissue types, both within and between species. Likewise, we are beginning to see how the three-dimensional organization of chromatin has evolved to influence the transcription of genes.
In this Collection, we invite studies that shed light on the many unanswered questions on the evolution of gene expression and its mechanisms. Submissions to this collection should focus on gene expression in an evolutionary context; in particular we invite studies of comparative transcriptomics, gene regulatory network evolution, sex-biased gene expression, evolution of chromatin-accessibility and 3D genome architecture, evolutionary epigenetics, and how gene expression is controlled at the transcriptional vs. translational level. Nature Communications and Communications Biology also welcome Reviews, Perspectives and Comments.
Slowly evolving cnidarians are useful models to study genome architecture. This study shows that sea anemones have a high degree of chromosomal macrosynteny, but poor microsynteny conservation. This is correlated with a small genome size and short distances of cis-regulatory elements to genes.
Regulatory and coding regions of genes are shaped by evolution to control expression levels. Here, the authors use deep learning to identify rules controlling gene expression levels and suggest that all parts of the gene regulatory structure interact in this.
Transcriptomic analyses in the offspring of Arctic charr morphs (Salvelinus alpinus) and their hybrids at two stages of cranial development suggest that gene expression variance can rapidly diverge in sympatry and is conditioned by dominance patterns.
Comparative analysis of human, macaque and mouse function and genetic heterogeneity in the brain reveals links between gene expression and orderly topography of functional networks.
In this Review, Hill et al. discuss how high-throughput methods for creating and characterizing mutations are providing insight into how regulatory variation is generated and evolves.
A framework for studying and engineering gene regulatory DNA sequences, based on deep neural sequence-to-expression models trained on large-scale libraries of random DNA, provides insight into the evolution, evolvability and fitness landscapes of regulatory DNA.
A transcriptomic analysis of 8 tissues across 20 bilaterian species reveals that ancestral gains of tissue-specific gene expression were closely associated with whole-genome duplications in vertebrates and the diversification of ancestral tissue types.
Analysis of single-cell RNA-sequencing data from seven amphioxus embryo stages informs the evolution of chordate cell type evolution and reveals three developmental origins for the vertebrate nervous system.