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Some epigenetic information can be passed from parents to offspring, but it is difficult to identify the molecular basis of information transferred through the gametes. This Review evaluates the extent of our understanding in mammals.
Aneuploidy — an abnormal number of chromosomes — typically has a detrimental effect on viability. Somewhat paradoxically, it is a remarkably common feature of cancer. This Review discusses how aneuploidy occurs, the cellular responses to aneuploidy and how aneuploidy can provide particular selective advantages during tumorigenesis.
Protein–RNA interactions are central to the regulation of gene expression. Emerging technologies for pinpointing these interactions, both in large complexes and between individual proteins and RNA, are discussed. Methods for analysing these data are also considered.
This Review presents arguments for and against each of two main models for the genetic basis of complex traits. It concludes that the infinitesimal model is essentially correct, but that rare, large-effect alleles also make an essential contribution to disease risk.
Many organisms have evolved dosage compensation mechanisms to normalize gene expression levels when copy numbers of sex chromosomes and autosomes are unequal. This Review discusses how multiple epigenetic processes fine-tune the twofold upregulation of gene expression across the entire male X chromosome ofDrosophila melanogaster.
Computer simulations can be valuable components of studies in many fields, including population genetics, evolutionary biology, genetic epidemiology and ecology. The recent increase in the available range of software packages is now making simulation an accessible option for researchers with limited bioinformatics experience.
There is considerable interest in exploring whether environmental factors, including chemicals and dietary components, can alter epigenomes. Environmentally induced changes in epigenetic marks are important in the development of several species, such as plants and insects; whether they influence human disease will be an area for future research.