Thank you for visiting nature.com. You are using a browser version with limited support for CSS. To obtain
the best experience, we recommend you use a more up to date browser (or turn off compatibility mode in
Internet Explorer). In the meantime, to ensure continued support, we are displaying the site without styles
and JavaScript.
The GenoMEL consortium reports a genome-wide association study of melanoma based on imputation and identifies a variant in the FTO gene associated with susceptibility to melanoma.
Nilanjan Chatterjee and colleagues report a theoretical framework to assess the predictive performance of polygenic models for risk prediction, based on analysis of genome-wide association study data sets. Across a range of common diseases and quantitative traits, they examine how predictive performance depends on the sample size, the total heritability and the underlying effect-size distributions.
Cancer genomes are now rapidly yielding to analysis, showing the heterogeneity of the mutational events and processes contributing to disease. This diversity is enormous and occurs at many levels. Consequently, the first clues from exome sequencing will increasingly need to be complemented by integrated analyses and extended to implicate mutations relevant to treatment outcomes.
Two new loci for premature fusion of the cranial sutures in humans suggest a common endpoint in osteoblast regulation, linking upregulation of phosphorylated ERK1/2 and TWIST1 haploinsufficiency.
A new study in mice shows that, during meiosis, the decision to mature a double-strand break into a crossover is controlled by a dosage-sensitive regulator, RNF212. This finding provides insight into the crossover maturation process and may help explain how sequence polymorphisms in RNF212 alter the frequency of crossing over in humans.
A recent study shows that the life history of chronic lymphocytic leukemia is characterized by a complex and dynamic architecture involving the development of subclones with changing dominance over time. This innovative study provides a framework to design anticipation-based chemotherapy approaches for cancer treatment.
Takashige Ishii and colleagues report that the closed panicle phenotype in the cultivated rice, Oryza sativa, is controlled by the OsLG1 gene. Closed panicles lead to higher seed retention, and the authors show evidence for selection at this locus during rice domestication.
Steven McCarroll, Giulio Genovese and colleagues report a new approach to help complete maps of the human genome reference sequence. They use a population-based admixture mapping approach and report the successful mapping of ~4 Mb of unplaced human euchromatic sequences.
Bin Han and colleagues report the draft genome of moso bamboo, an important non-timber forest product. RNA sequencing analysis of bamboo flowering tissues suggests a connection between drought-responsive genes and potential flowering genes.
Hirotomo Saitsu, Noboru Mizushima, Naomichi Matsumoto and colleagues report the identification of de novo mutations in WDR45 that cause static encephalopathy of childhood with neurodegeneration in adulthood. WDR45 encodes a homolog of the yeast autophagy protein Atg18.
Jeramiah Smith, Weiming Li and colleagues report the whole-genome sequence of the sea lamprey, Petromyzon marinus, representing a vertebrate lineage diverged from humans ~500 million years ago. Their analyses define key evolutionary events in vertebrate lineages and provide evidence for two whole-genome duplication events occurring before the divergence of the ancestral lamprey and jawed vertebrate (gnathostome) lineages.
Alan Cooper and colleagues investigated the prokaryotic flora of dental calculus from 34 human skeletons spanning several thousand years of European populations, from Mesolithic hunter-gatherers, via Neolithic and medieval agriculturalists, to modern industrial individuals. Cariogenic bacteria became more abundant relatively recently with the Industrial Revolution.
Felix Beuschlein, Martin Reincke and colleagues identify recurrent somatic mutations in ATP1A1 and ATP2B3 in aldosterone-producing adenomas with wild-type KCNJ5. The ATP1A1 and ATP2B3 mutations alter conserved residues and lead to impaired sodium, potassium and calcium ion homeostasis.
Amr Sawalha and colleagues performed dense genotyping in the HLA locus followed by imputation to fine map genetic variants associated with Behçet's disease in this region. They report four independent genetic associations in the HLA region and localize the genetic association previously attributed to HLA-B*51 to a genetic variant between the HLA-B and MICA genes.
Neil Hunter and colleagues show that RNF212 is essential for crossing-over during mammalian meiosis and functions to couple chromosome synapsis to the formation of crossover-specific recombination complexes. They further show that selective localization of RNF212 to a subset of recombination sites is a key step in the crossover designation process that serves to stabilize meiosis-specific recombination factors at these sites.
