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The origin of DNA methylation patterns has been a mystery for many years. A new study identifies the DNA sequence itself as a key determinant and focuses attention on the role of transcription factors.
Diversification and specialization of high-throughput technologies demand assay-specific treatment of data for reliable interpretation. A new study shows that data generated using the Hi-C approach contain hidden features of interchromosomal DNA interactions, which are revealed through analysis with an integrated probabilistic model that corrects for multiple sources of bias in the data.
A new study shows an inserted retroelement in the regulatory sequences of the maize tb1 gene, which controls shoot branching, was the target of human selection during the domestication of maize from its wild relative teosinte. The insertion allele was already present at low frequency in teosinte populations before selection, highlighting the significance of standing genetic variation in the evolution of morphological diversity.
The Archon Genomics X Prize contest has been declared for January 2013. Larry Kedes and Grant Campany explain the selection of centenarian genomes for the contest and provide the rules by which the contestants will be judged.
Fowzan Alkuraya and colleagues report the identification of a truncating mutation in DNASE1L3 in six families with an autosomal recessive Mendelian form of systemic lupus erythematosus, a complex autoimmune disease.
Qifa Zhang and colleagues report the map-based cloning of the quantitative trait locus GS5, which regulates grain size and yield in rice. GS5 encodes a putative serine carboxypeptidase and increased expression is associated with larger grain.
Shiro Ikegawa and colleagues identify common variants near LBX1 associated with adolescent idiopathic scoliosis. LBX1 encodes a homeobox protein expressed in the dorsal spinal cord and skeletal muscle that may contribute to scoliosis risk by altering somatosensory function.
Brian Oliver, Jason Lieb, Christine Disteche and colleagues present an analysis of expression data in mammals, C. elegans and Drosophila. They conclude that dosage compensation corrects the imbalance in the number of X chromosomes relative to autosomes by upregulating X-linked genes in both males and females.
Soumya Raychaudhuri and Johanna Seddon and colleagues report the identification of a rare penetrant mutation in CFH that associates with increased risk of age-related macular degeneration.