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.
Rachael Stolzenberg-Solomon, Laufey Amundadottir and colleagues report a genome-wide association study of pancreatic cancer. They identify four new susceptibility loci.
Leonie Ringrose and colleagues show that a switch between forward and reverse noncoding transcription at the Drosophila melanogaster vestigial Polycomb/Trithorax response element switches the status of the element between silencing and activation. They further show that strand switching of noncoding RNAs occurs at several hundred PcG-binding sites in flies and vertebrates, suggesting that this regulatory mechanism could be widespread.
Dongxin Lin, Philip Taylor, Li-Dong Wang and colleagues have now pooled three genome-wide association analyses of esophageal squamous cell carcinoma, finding two new risk loci at genome-wide significance and an HLA class II locus of significance in high-risk populations. They reanalyze the strength of evidence for previously published risk loci.
Josef Penninger and colleagues generate mice with conditional knockout of Jagn1 in hematopoietic cells. They show that the mice have a defective neutrophil-mediated immune response to Candida albicans, and GM-CSF treatment restored the defective fungicidal activity.
Andrew Singleton and colleagues report a large-scale meta-analysis of genome-wide association data in Parkinson's disease using over 13,000 cases and 95,000 controls plus additional samples for replication. They identify 6 new risk loci and replicate 28 independent risk variants for Parkinson's disease across 24 loci.
Shiro Ikegawa and colleagues report the results of a genome-wide association study for ossification of the posterior longitudinal ligament of the spine in a Japanese cohort. They identify six new loci, three of which showed decreased expression in a mouse model of endochondral ossification.
Trey Ideker and colleagues report a comprehensive genome-wide analysis of head and neck squamous cell carcinoma, reporting that TP53 mutations are frequently accompanied by loss of chromosome 3p. Their data indicate that the combination of these two events has a stronger negative effect on survival rate than either event alone.
Jamie Craig, Puya Gharahkhani and colleagues report results of a genome-wide association study of primary open-angle glaucoma. They identify common variants near ABCA1, AFAP1 and GMDS that are associated with risk of this disease.
Tin Aung, Christopher Hammond and colleagues report the results of a large genome-wide association study of intraocular pressure. They identify four new loci associated with this trait and show that three of these loci are associated with risk of primary open-angle glaucoma.
Frank Uhlmann and colleagues show that the yeast Scc2–Scc4 cohesin loader complex is recruited to nucleosome-free regions in the promoters of highly expressed genes by the RSC chromatin remodeling complex and acts to maintain the nucleosome-free status of its binding sites. These findings suggest that human disorders caused by disruption of cohesin or RSC complex function, such as Cornelia de Lange and Coffin-Siris syndromes, could arise from related changes in the nucleosome landscape.
Zhenglin Yang, Xinghuai Sun and colleagues report the results of a genome-wide association study of primary open-angle glaucoma in East Asians. They show that common variants near ABCA1 and in PPM2 are associated with increased risk of this disease.
Charles Perou and colleagues apply a panel of 52 published gene expression signatures of human breast tumors to expression data from The Cancer Genome Project to identify new proliferation drivers. They find genomic regions that are uniquely amplified in highly proliferative luminal breast tumors, including some that are correlated with poor prognosis.
Stephen DiFazio and colleagues report the genome sequences and population genomic analyses of 544 black cottonwood trees (Populus trichocarpa) along the Northwest coast of North America. They find evidence for climate-driven selection on adaptive traits, including genes related to drought, photoperiod and stress.
Matthew Webster and colleagues report whole-genome sequencing of 140 honeybees from 14 worldwide populations. Their analyses provide insights into the evolutionary history and genetic basis of local adaptation in honeybees.
Scott Keeney, Bernard de Massy, Maria Jasin and colleagues report a method to perform tetrad analysis (analysis of all four chromatids from a single meiosis) in mouse and analyzed two recombination hotspots in mouse oocytes and spermatocytes. They show that gene conversion frequently spares the binding site of the hotspot-specifying protein PRDM9.
Jie He and colleagues report exome sequencing of 113 tumor-normal pairs of esophageal squamous cell carcinoma. They highlight mutations in genes involved in cell cycle and apoptosis regulation, histone modifier genes and genes encoding members of the Hippo and Notch pathways.
Andrew Hattersley, Noel Morgan, Juha Kere and colleagues identify de novo activating germline STAT3 mutations in five unrelated individuals with early-onset multi-organ autoimmune disease.
Bin Tean Teh and colleagues report exome sequencing of 8 breast fibroadenomas and follow-up targeted sequencing in 90 additional samples. They find that 59% of samples contain somatic mutations in exon 2 of MED12, a mutational pattern shared with another female-specific benign tumor, uterine leiomyoma.
Qiuyin Cai and colleagues report a genome-wide association analysis for breast cancer in 22,780 cases and 24,181 controls from 14 studies as part of the Asia Breast Cancer Consortium. They identify three loci newly associated with breast cancer susceptibility.