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Mutations that affect the extracellular matrix (ECM) cause a range of inherited diseases. As well as exerting effects outside the cell, increasing evidence suggests that misfolded mutant proteins can cause stress inside cells, which contributes to disease pathology.
Principles and patterns of nucleosome positioning have emerged through recent advances in genome-wide mapping technologies. These patterns have improved understanding of how DNA sequence and protein complexes control nucleosome location and the influence of nucleosome positioning on transcriptional control.
Effective population size and patterns of molecular evolution and variation Brian Charlesworth Effective population size (Ne) is a core concept in population genetics that is necessary for determining the evolutionary role of genetic drift. This Review discusses current understanding of the influences on, and importance of, Nein different biological situations.
In mammals, errors in synapsis are associated with impaired meiosis, which is male-biased and is associated with reduced fertility. The recent discovery that asynapsed chromosome segments are transcriptionally silenced has provided fresh insight into the connection between asynapsis and meiotic impairment.
Gene regulatory networks (GRNs) are hierarchically connected sub-circuits composed of genes and thecis-regulatory sequences on which they act. The authors propose that evolutionary alterations in morphology depend on the position in the GRN hierarchy at which regulatory change occurs.
Several models exist to explain the architecture of complex disease traits — each with its limitations. In this Perspective article it is proposed instead that human traits are canalized, and that their perturbation by genetic or environmental differences exposes genetic variation, leading to increased disease risk.
Small RNAs — including miRNAs, siRNAs and piRNAs — differ in their biogenesis, modes of target regulation and biological functions. There are also interconnections between these pathways, which compete and collaborate in some of their regulatory and protective roles.
Looking back over the relationship between natural selection and genetics highlights the important role of genetics in understanding the implications of Darwin's concept. Looking to the future, understanding the reach and role of selection also has profound implications for genetics.
Recent genome-wide association and expression array studies have provided new insights into prostate cancer genetics. The germline and somatic variants identified in these studies have been proposed to predict prostate cancer risk and aggressiveness. These results are discussed in the context of their implications for the screening and treatment of prostate cancer.
A realistic understanding of how a biological system arises from interactions between its parts increasingly depends on quantitative mathematical and statistical modelling. This Review explains how statistical inferences and stochastic modelling are the best tools we have for describing heterogeneous biological systems.
Recent discoveries of genetic contributors to plasma lipid and lipoprotein levels, which are key risk factors for cardiovascular disease, have shown new avenues for research into basic metabolic pathways and could lead to improvements in disease diagnosis and treatment.
The development of high-throughput DNA sequencing methods provides a new method for mapping and quantifying transcriptomes — RNA sequencing (RNA-Seq). This article explains how RNA-Seq works, the challenges it faces and how it is changing our view of eukaryotic transcriptomes.
Rapid increases in the quantity and complexity of data generated by modern biological research present huge challenges for database resources. Revised database models and web-based technological advances could lead to powerful new tools for disseminating and interpreting genotype–phenotype information.
The expression of many histone deacetylase (HDAC) isoforms in eukaryotic cells raises questions regarding their specificity and the programmes of gene expression that they control. HDAC knockout mice are a powerful tool for addressing these questions and have revealed that individual HDACs have specific functions in development and disease.
Gene duplication can occur via insertion of reverse transcribed mRNAs into the genome. Although originally thought to be non-functional, recent studies have uncovered how these retrocopies can acquire novel functions, and how patterns of retroposition can give unexpected insights into genome evolution.
Recent genome-wide association studies have provided evidence that some genetic loci are associated with disease susceptibility for several different immune-related disorders. Analysis of shared genetics can highlight shared pathogenic pathways that could become the focus for therapeutic intervention.
