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Rosalind Eeles and colleagues report meta-analysis of genome-wide association studies for prostate cancer and genotyping on the custom iCOGS array in 25,074 cases and 24,272 controls from 32 studies available in the PRACTICAL Consortium. They identify 23 new prostate cancer susceptibility loci, 20 of which are associated with both aggressive and non-aggressive disease.
Michael Bruford and colleagues report whole-genome sequencing of the peregrine (Falco peregrinus) and saker falcon (Falco cherrug). Their comparative analysis with five avian species provides insight into falcon evolution and adaptation to a predatory lifestyle.
Richard Houlston, Kari Hemminki and colleagues report a meta-analysis of genome-wide association studies of multiple myeloma and identify a variant in the CCDN1 gene that influences risk for developing a specific tumor karyotype with the t(11;14)(q13;q32) translocation.
Carlos López-Otín and colleagues report recurrent mutations in POT1 in chronic lymphocytic leukemia. This is the first member of the telomeric shelterin complex reported to be mutated in human cancer.
Florent Soubrier and colleagues report a genome-wide association study of pulmonary arterial hypertension. They identify a susceptibility locus near CBLN2 associated with a twofold elevated risk of developing this life-threatening disease.
Yao-Guang Liu and colleagues identify the molecular basis of male sterility in the Wild Abortive CMS (CMS-WA) system that has been widely used for hybrid rice breeding. They report that a new mitochondrial gene, WA532, confers male sterility because its protein product interacts with the mitochondrial protein COX11 and leads to cytoplasmic-nuclear incompatibility.
Gonçalo Abecasis and colleagues report a large-scale meta-analysis of genome-wide association studies for age-related macular degeneration (AMD), including over 17,100 advanced cases and 60,000 controls. They identify seven loci newly associated with AMD and report pathway analysis that shows enrichment in the complement system and atherosclerosis signaling.
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.
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.
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.
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.
Anthony Bleyer, Eric Lander, Mark Daly and colleagues show that frameshift mutations in a large VNTR of MUC1 cause medullary cystic kidney disease type 1. Their discovery sheds light on the biology of this disease and highlights challenges in using massively parallel sequencing technologies to characterize certain types of sequence variants.
Julie Baker and colleagues report epigenome and transcriptome profiles of rat and mouse trophoblast stem cells and show that endogenous retroviruses serve as a genome-wide source of species-specific enhancer elements in the placenta.
Caroline Klaver and colleagues report a meta-analysis for refractive error and myopia, including 37,382 individuals from 27 European studies and 8,376 individuals from 5 Asian studies, as part of the Consortium for Refractive Error and Myopia (CREAM).
Domesticated maize make 8–20 rows of kernels, whereas its ancestor teosinte makes 2 rows. David Jackson and colleagues report that variation at the FEA2 locus in maize influences kernel row number and kernels per ear, which are important crop yield traits.
William Newman, Gareth Evans and colleagues report that loss-of-function mutations in SMARCE1 cause an inherited disorder characterized by multiple spinal meningiomas. Tumors from individuals with SMARCE1 mutations showed loss of SMARCE1 protein, consistent with a tumor suppressor mechanism.
William Carroll and colleagues report the identification of mutations in NT5C2, encoding cytosolic 5′-nucleotidase II, which are specific for relapsed childhood acute lymphoblastic leukemia. The mutations confer increased enzymatic activity and resistance to treatment with nucleoside analog therapies in vitro.