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Cancer metastasis has historically been viewed in the context of the mutational spectra arising during development of the primary cancer. The identification of a new modifier of cancer metastasis efficiency in mice provides experimental support for a predisposition model in which metastatic potential is viewed as a heritable trait influenced by host genetic polymorphisms.
The 8th International Symposium on Mutations in the Genome covered a broad range of technological developments and their applications to detecting genomic sequence variation.
How the Fanconi anemia chromosome stability pathway functions to cope with interstrand crosslinks and other DNA lesions has been elusive. The identification of two new Fanconi anemia–associated proteins with helicase motifs, FANCM and BRIP1 (also called FANCJ or BACH1), implicates the FANC nuclear core complex in recognizing or processing damaged DNA and the BRIP1 helicase as acting independently of this complex.
The first replicating molecules were probably composed of RNA and undoubtedly small, limited in size by a self-destructing error rate. A new study shows that a relatively minor increase in replication fidelity may have had a large effect on the size, and hence complexity, of early replicators.
Molecular noise, or random fluctuations in the levels of cellular components, arises spontaneously when there are small numbers of molecules and is transmitted to dependent processes. A new study shows how noise propagates through gene expression in yeast and shows that chromosomal position has a more central role than previously thought.
A proportion of wild mice carry a variant region of chromosome 17 that results in severe transmission ratio distortion in males. The genetic basis of this distortion has long been enigmatic, but a recent study begins to disentangle it.
A new study describes the use of an alternative splicing microarray to identify exons regulated by the neural-specific Nova splicing factors. Nova2 is also shown to coordinately regulate splicing of a group of functionally related genes that encode a network of interacting proteins at the synapse.
Primary immunodeficiencies, ranging from mild to very severe, comprise more than 50 different entities in which part of the body's immune system is missing or does not function properly. Two studies now report defects in the TNFR family member TACI associated with two forms of human immunodeficiency.
Applied genomics has focused on correlating clinical phenotypes with qualitative differences in DNA sequence such as variations in SNPs. A new study adds a third dimension, allele-specific copy-number differences, combining quantitative and qualitative approaches to understand the relationship between genetic variation and clinical outcome.
RNA-based silencing mechanisms suppress gene expression through the sequence-specific activity of small RNAs. New studies in plants now identify atypical RNA polymerases that promote and maintain transcriptional silencing.
Autosomal dominant focal segmental glomerular sclerosis is a kidney disease that leads to progressive renal failure. Now, new studies show that mutations in the cation channel TRPC6 underlie this hereditary kidney disorder and establish a molecular link between TRPC6 and structural components of the glomerular slit diaphragm.
A new study of dominant negative functions in cells infected by a positive-strand RNA virus detects an array of locus- and allele-specific effects. Exploiting subunit defects in multi-component complex assemblies provides a new approach to identifying targets for antiviral therapies that may inhibit the emergence of drug-resistant RNA virus populations.
