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Soumya Raychaudhuri and colleagues report a broadly applicable method that uses chromatin marks, specifically H3K4me3, to identify critical cell types to fine map complex trait variants.
Stein Aerts, Jan Cools and colleagues report exome sequencing of T-cell acute lymphoblastic leukemia. They identify recurrent somatic mutations in CNOT3 and ribosome genes RPL5 and RPL10.
Ian Tomlinson and colleagues report the identification of germline variants in POLE and POLD1 that are susceptibility alleles for colorectal cancer. POLE and POLD1 encode DNA polymerases that function in DNA replication.
Karen Mohlke, Markku Laakso, Michael Boehnke and colleagues report the first application of the Illumina HumanExome Beadchip array, examining association with insulin and glycemic traits in 8,229 nondiabetic Finnish males from the population-based Metabolic Syndrome in Men (METSIM) study. They identify low-frequency coding variants at both known and newly associated loci with insulin processing and secretion.
Anna Köttgen and colleagues report genome-wide association studies for serum urate in over 140,000 individuals from the Global Urate Genetics Consortium (GUGC). They identify 18 loci newly associated with serum urate concentrations and confirm 10 known loci, characterize their associations with gout and include a network analysis suggesting a role for inhibins-activins pathways in regulating urate homeostasis.
Maize oil is an important food and energy source. Now, Jianbing Yan and colleagues report a genome-wide association study in maize for maize kernel oil composition. They analyzed 368 maize lines with 1.06 million SNPs genome-wide and found 74 loci associated with maize kernel oil concentration and fatty acid composition.
Fuwen Wei, Jun Wang and colleagues report whole-genome sequencing of 34 wild giant pandas. Their population genetic analysis provides insights into demographic history and local adaptation.
Long Yu and colleagues report a genome-wide association study for hepatitis B virus–related hepatocellular carcinoma (HBV-HCC). They report that genetic variants in STAT4 and HLA-DQ genes confer risk of HBV-HCC.
Trevor Lawley and colleagues report whole-genome sequencing of a large global collection of Clostridium difficile, the most common cause of healthcare-associated infection in the developed world. Their phylogenetic analysis traces the spread of this pathogen through healthcare-associated epidemics worldwide.
Rajesh Thakker and colleagues show that missense mutations affecting codon 15 of AP2S1 cause familial hypocalciuric hypercalcemia type 3, a disorder of calcium homeostasis. AP2S1 encodes a protein involved in clathrin-mediated endocytosis, and the mutations probably cause disease by disrupting internalization of the calcium-sensing receptor CaSR.
Laurie Ozelius and colleagues identify mutations in GNAL in families with primary torsion dystonia, a movement disorder characterized by repetitive twisting muscle contractions and postures. GNAL encodes Gαolf, a stimulatory G protein α subunit.
Carlo Gambacorti-Passerini and colleagues identify recurrent SETBP1 mutations in atypical chronic myeloid leukemia. The mutations, which cluster in a small region of SETBP1, are associated with high white blood cell counts and poor prognosis.
Heinz Jungbluth and colleagues report the identification of mutations in EPG5 that cause Vici syndrome, characterized by callosal agenesis, cataracts, cardiomyopathy, combined immunodeficiency and hypopigmentation. EPG5 encodes a regulator of autophagy, and the identified mutations cause defective autophagosomal function.
Panos Deloukas, Nilesh Samani and colleagues report a large-scale association analysis using the Metabochip array in 63,746 coronary artery disease cases and 130,681 controls. They identify 15 susceptibility loci, refine previous associations and use network analysis to highlight biological pathways.
David Sabatini and colleagues report an insertional mutagenesis screen in haploid cells for resistance to the cancer drug candidate 3-bromopyruvate (3-BrPA). They find that SLC16A1, the gene that encodes MCT1, is frequently inactivated. MCT1 expression is required and sufficient for 3-BrPA uptake by cancer cells and may be used to predict cancers that are sensitive to 3-BrPA.
Rachel Freathy and colleagues report results of a large-scale genome-wide association study of birth weight. They identify four loci newly associated with this trait and find overlap between birth weight–associated loci and those influencing adult height and metabolism.
Hiroshi Seno and colleagues report that Dclk1 selectively marks intestinal tumor stem cells. They further show that specific ablation of these cells in a mouse tumor model results in a pronounced regression of polyps without apparent damage to normal intestinal tissue.
Duanqing Pei and colleagues show that BMP signaling to histone H3 lysine 9 methylation is a barrier to reprogramming somatic cells into induced pluripotent cells (iPSCs) and that its removal promotes the formation of fully reprogrammed iPSCs from pre-iPSCs. pre-iPSCs exhibit pluripotent properties but do not activate the core pluripotent network.
Victor Velculescu, Michael Hogarty and colleagues report whole-genome and exome sequences of neuroblastoma, the most common solid tumor in children. They identify recurrent somatic mutations in the chromatin-remodeling genes ARID1A and ARID1B.