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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.
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.
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.
The most recent National Academies Keck Futures Initiative Conference, entitled 'The Genomics Revolution: Implications for Treatment and Control of Infectious Disease', was held at the Arnold and Mabel Beckman Center in Irvine, California. It provided strategies and opportunities for interdisciplinary collaboration and incentives to innovate.