Reviews & Analysis

Recent studies have identified common genetic variants that contribute to colorectal cancer aetiology, providing new insight into the genetic architecture of the disease. Associations identified so far suggest an overlap with familial cases in terms of biological mechanisms, and also provide new avenues for exploration.

There are still many challenges ahead to maximize the potential of the mouse as a model for basic research and human diseases. This article discusses the current initiatives and future strategies to improve the next generation of mouse models.

Identifying genes that are essential for maintaining neuronal integrity provides significant insight into the mechanisms underlying neurodegenerative disorders. Recessive mutants in the fly have proven invaluable for finding such genes and for highlighting key biological processes that contribute to neurodegeneration.

Comparisons between species are essential for evo–devo research, but are there benefits in focusing on organisms in which sophisticated analytical tools are available? The author of this Perspective discusses this question, and also proposes further integration of evo–devo with other areas of evolutionary research.

The availability of genome-wide panels of SNPs for many domestic animals has allowed the mapping and identification of many economically important traits in livestock. This Review discusses how genome-wide association studies can be used for the genetic improvement and selection of domestic animals.

The limited lack of success of many human complex disease studies is often attributed to the existence of interactions between loci. This article reviews and assesses the methods and software packages that have been developed to detect these gene by gene interactions.

Biological evolution and language evolution share many striking parallels. This Review explains how these similarities enable the use of statistical methods derived from phylogenetics to understand how human languages evolve and the insights that language phylogenies can reveal.

Recent studies have shown that viral oncoproteins induce specific epigenetic changes to stimulate the replication of normally quiescent cells. These findings have implications for understanding the roles of epigenetics in cancer, and in normal biological processes such as differentiation.

Recent advances in genotyping technology have identified or confirmed more than 20 loci that are associated with susceptibility to systemic lupus erythematosus (SLE). These findings add detail to our current understanding of the molecular basis of this complex disease and provide new avenues for investigation.

DNA methylation and histone modification are important for regulating gene expression and chromatin structure. New evidence suggests there are multiple levels of crosstalk between these marks. Understanding this crosstalk will be important for elucidating the role of epigenetics in development and disease.

Genome-wide association studies have identified many promising links between genetic variants and human traits. However, the steps from the initial identification of associated markers to the reliable validation of the causal variant are long and tortuous, as the authors describe.

Stable, non-genetically variant cells can arise in clonal populations owing to gene expression noise and the multi-stability of gene networks. This Perspective proposes that such non-genetic yet heritable heterogeneity contributes to tumour evolution, and might explain the acquisition of traits such as drug resistance.

Plant growth is controlled by both intrinsic and environmental signals and is mediated by hormonal signalling. Hormones are important for maintaining and regulating stem cell compartments in postembryonic plants, and current research is revealing many interactions between different hormone pathways.

The success of genome wide association (GWA) studies raises the hope that disease-associated markers will be useful in predicting disease risk. However, the metrics used to report effect sizes in GWA studies are not useful for determining the accuracy of genetic profiles.

Diverse lines of evidence link replication timing with epigenetic marks and transcriptional potential. The authors of this article propose a model in which mechanisms that bring about coordinated changes in replication timing also provide a platform for reprogramming the epigenome.

Genome-wide linkage and association studies have reliably implicated a growing number of genes in susceptibility to addiction. An emerging theme is the substantial overlap in loci that are associated with addiction to multiple substances.

The last few years have seen extensive efforts to catalogue human genetic variation and elucidate its relationship to phenotypes, especially disease. Important challenges lie ahead in this area, particularly in relation to the contribution of rare and copy number variants.

Fox genes encode a large and ancient family of transcriptional regulators with a wide range of biological functions. This article describes the evolution of this family, its importance in development and disease, and the basis of its functional diversification.

The recent discovery that most of the eukaryotic genome is transcribed has focused interest on the importance of non-coding transcripts. Long non-coding RNAs are emerging as a class with wide-ranging functions in gene regulation.

Mapping genetic variants that cause changes in transcript levels is a new tool that can give insight into the biology of disease risk loci identified by genome-wide association studies; here the potential power and technical challenges of this approach are discussed.