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Two new studies evaluate the extent to which widely used SNP platforms capture common variation in different populations, and they present strategies for improving power in whole-genome association studies using fixed marker sets. Their results suggest that genome-wide association studies are finally ready to move from theory to practice.
Aberrant methylation of a CpG island in cancer is thought to silence a single gene but not its neighbors. A new study in colon cancer shows that transcriptional silencing can also be unexpectedly diffuse, encompassing all the genes over the 4 Mb of chromosome band 2q14.2, marked by archipelagos of methylated islands and uniform heterochromatin modification.
It has long been suspected that phenotypic diversity results, in large part, from variation in DNA regulatory sequences. A new study now shows that adaptive changes in an upstream regulatory sequence of tb1 are responsible for major phenotypic changes associated with maize domestication.
Mutations in hemojuvelin disrupt its ability to stimulate expression of the iron regulatory peptide hepcidin and result in the severe iron loading disorder juvenile hemochromatosis. A new study shows that hemojuvelin acts through the multifunctional bone morphogenetic protein pathway to modulate hepcidin levels, providing new insights into communication within a key physiological pathway.
New studies indicate that damage to the mitochondrial genome (mtDNA) accumulates with age, specifically in the dopaminergic neurons of the substantia nigra implicated in Parkinson disease. These findings suggest that mtDNA damage is important in the decay of dopaminergic neurons in aging and in Parkinson disease, resulting in loss of mitochondrial function and, ultimately, neuronal death.
A new study shows that Slc26a6-null mice manifest calcium-oxalate nephrolithiasis accompanied by enhanced net intestinal oxalate absorption. These findings point to a critical role for Slc26a6 in gastrointestinal oxalate secretion and suggest a genetic explanation for a common form of renal stone disease in humans.
A new study elucidates a drug interaction network using a simple combination of theory and experiments, testing drug combinations on Escherichia coli. The results are elegant, uncovering drug interactions shared within drug classes and providing useful tools for functional classifications of drugs.
Mutations in SCL2A10, encoding a glucose transporter, result in arterial tortuosity syndrome, indicating a link between glucose metabolism and angiopathic changes. Intriguingly, some of the phenotypic effects of SCL2A10 ablation may be mediated by upregulation of TGFβ signaling, suggesting new approaches for therapy of aortic aneurysm.
A new study reports that two common loss-of-function mutations in the gene encoding filaggrin are important risk factors for atopic dermatitis, and interestingly, for asthma in association with atopic dermatitis, but not asthma in the absence of atopic dermatitis. These findings suggest the importance of the epidermal barrier in preventing sensitization to allergens.
A new study uses an evolutionary approach to characterize the diversity within populations of cells in Barrett's esophagus lesions. Greater genetic clonal diversity is found to be associated with higher risks for transformation.
Special chromosome marks are thought to maintain the stable pattern of gene expression that underlies cell identity. Surprisingly, similar chromosome marks accompany cyclic gene expression driven by the 24-hour circadian clock.
A new study profiles microRNA (miRNA) expression in mouse epidermis and hair follicles and examines the requirement for these miRNAs during normal embryonic development. In the absence of Dicer-dependent miRNA production, hair follicles evaginate rather than invaginate, revealing an unexpected role for miRNAs in regulating hair follicle morphogenesis.
Mutations in components of the planar cell polarity pathway in mammals give rise to neural tube defects, anomalous cochlear hair cell stereocilia and kidney cysts. A new study suggests that two planar cell polarity components initially characterized in flies are required for ciliogenesis and Hedgehog signaling in frog embryos, providing insights into the mechanisms governing positioning and growth of the ciliary axoneme.
