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Transposable elements (TEs) are widely known for their deleterious consequences of selfish propagation and mutagenesis. However, as described in this Review, TEs also provide hosts with rich, beneficial gene-regulatory machinery in the form of regulatory DNA elements and TE-derived gene products. The authors highlight the diverse regulatory contributions of TEs to organismal physiology and pathology, provide a framework for responsibly assigning functional roles to TEs and offer visions for the future.
To characterize the genetic underpinnings of speciation, genome scans can identify genomic regions that differ between divergent populations of wild organisms. In this Review, Wolf and Ellegren describe the methodological details of these approaches and how genomic islands of differentiation should be interpreted cautiously in the search for 'speciation genes'. They also discuss methodological best practice that takes into consideration genomic differentiation occurring through speciation-independent evolutionary processes.
Genome-wide mapping, mathematical models and functional genetic analyses suggest that distinct molecular interactions at replication initiation sites underlie the regulation of DNA replication in metazoans. In this Review, the authors discuss recent insights into these DNA–protein interactions, and the genetic and epigenetic features of mammalian replication origins.
Investigating the genetic basis of complex traits and diseases using individual-level genetic data from genome-wide association studies is often hampered by privacy concerns and logistical considerations. Here, the authors review recent statistical methods that leverage summary association data, which are widely available and can circumvent these issues.
Many genetic studies focus on germline-inherited genomic variation. However, there is increasing realization that mutations occurring during our lifetime are so frequent and pervasive that, in all likelihood, no two of our cells are truly genetically identical. In this Review, the authors describe the detection, molecular nature and dynamics of this under-appreciated post-zygotic variation, and discuss the implications for normal human physiology and disease.
