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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.
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.
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.
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.
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.
Robbie Waugh and colleagues report that the EARLINESS PER SE (EPS2) locus is associated with spring growth habit and environmental adaptation in barley. Resequencing the barley homolog of CENTRORADIALIS, located within the EPS2 locus, in 216 spring and 207 winter barley accessions identified haplotypes at HvCEN that correspond with winter or spring growth habit.
Simeon Boyadjiev and colleagues report a genome-wide association study of nonsyndromic sagittal craniosynostosis, the most common form of craniosynostosis. They identify risk loci near BMP2 on chromosome 20 and within BBS9 on chromosome 7.
David Whitcomb, Bernie Devlin and colleagues report the results of a genome-wide association study of pancreatitis. They identify common variants at two loci associated with risk of this disease, including one on the X chromosome that shows strong evidence of interaction with alcohol consumption.
Sandeep Dave and colleagues report exome sequencing of 59 Burkitt lymphomas. They report recurrent mutations in many genes, including ID3, MYC, GNA13, RET, PIK3R1, NOTCH1 and the SWI/SNF genes ARID1A and SMARCA4.
Daniel Bernard, Jan Wit, Mehul Dattani, Krishna Chatterjee and colleagues show that mutations in IGSF1 cause a new X-linked syndrome characterized by central hypothyroidism and testicular enlargement. Their findings implicate IGSF1 as a positive regulator of thyrotropin-releasing hormone signaling in the anterior pituitary.
Variation in inflorescence architecture in plants affects reproductive success and agricultural yield. Zachary Lippman and colleagues report that the phenotype of the terminating flower (tmf) tomato mutant, the only known tomato mutant with single-flower inflorescence, is caused by a mutation affecting a nuclear protein that regulates known floral meristem identity complex members AN and FA to repress floral termination.
Richard Trembath and colleagues report a meta-analysis of genome-wide association studies for psoriasis, including 2 cohorts genotyped on the custom Immunochip array, in a total of 10,588 cases and 22,806 controls. They identify 15 new susceptibility loci and refine signals in previously known loci, highlighting a role for innate host defense in susceptibility to psoriasis.
Reiner Siebert and colleagues report whole-genome, whole-exome and transcriptome sequencing of Burkitt lymphomas. They identify recurrent mutations in several genes not previously known to be mutated in Burkitt lymphoma, including ID3, FBXO11, DDX3X and RHOA.