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Common genomic structural variants predispose to deleterious de novo genomic rearrangements. Understanding how they do so will require population studies across the continuum of genomic variation and ethical discussion of the nature and uses of human variation.
Genomic instability is a common feature of human cancer. A new study identifies a putative gene expression signature of chromosome instability in solid tumors, with implications for both understanding the underlying mechanisms and improving prediction of clinical outcomes.
Many submicroscopic genomic rearrangements have been robustly associated with well-defined clinical syndromes. Three papers in this issue once again illustrate how underlying genomic architecture can catalyze rearrangement causing sporadic disease, and they further suggest that widespread clinical implementation of high-resolution genome analysis may identify the cause of traits previously intractable to conventional genetic analyses.
A new study shows that normalizing the number of CUG repeat–containing DMPK transcripts in a mouse model of myotonic dystrophy reverses the myotonia and cardiac conduction defects. This discovery suggests new therapeutic approaches for the disease.
Dysregulation of the JAK-STAT pathway is implicated in human cancer and leads to a hematopoietic tumor phenotype in flies. Now, an enhancer-suppressor screen of the fly tumor model connects the JAK kinase Hopscotch pathway with chromatin-modifying proteins and heterochromatic gene silencing.
A new mutation in wspF allows Pseudomonas fluorescens to colonize a previously unoccupied niche, but its proteomic effects reflect only a fitness cost. Between these two observations lies a better understanding of how organisms build and modify networks of protein expression through evolutionary time.
Each animal species displays a specific life span, rate of aging and pattern of development of age-dependent diseases. The genetic bases of these related features are being studied experimentally in invertebrate and vertebrate model systems as well as in humans through medical records. Three types of mutants are being analyzed: (i) short-lived mutants that are prone to age-dependent diseases and might be models of accelerated aging; (ii) mutants that show overt molecular defects but that do not live shorter lives than controls, and can be used to test specific theories about the molecular causes of aging and age-dependent diseases; and (iii) long-lived mutants that might advance the understanding of the molecular physiology of slow-aging animals and aid the discovery of molecular targets that could be used to manipulate rates of aging to benefit human health. Here, I analyze some of what we know today and discuss what we should try to find out in the future to understand the aging phenomenon.
