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Shireen Lamandé and colleagues report mutations in TRPV4 in familial digital arthropathy-brachydactyly (FDAB), which is characterized by osteoarthropathy of the fingers and toes. TRPV4 is a cation channel, and functional experiments suggest mutant proteins are not localized properly to the cell surface.
John Doebley and colleagues have identified a transposon insertion in the maize domestication gene, tb1, that acts as a regulatory enhancer. The transposon insertion appears to be a causative variant that partially explains major changes in plant architecture during maize domestication.
Simon Stacey, Kari Stefansson and colleagues show that a germline variant in the TP53 polyadenylation signal is associated with increased risk of basal cell carcinoma and other solid tumors.
Yardena Samuels and colleagues sequenced G protein-coupled receptors in 11 melanoma samples and report a comprehensive map of somatic variants in the GPCR gene family. They find frequent mutations in GRM3, which promote proliferation and migration of melanoma cells.
Vincent Lynch and colleagues report the transcriptional landscapes of endometrial stromal cells from placental and marsupial mammals and identify 1,532 genes that are expressed in human and armadillo but not opossum. The authors suggest these genes were recruited into endometrial stromal cells during the evolution of pregnancy in placental mammals. Thirteen percent of these genes are located within 200 kb of a MER20 transposable element, and functional experiments show that MER20 elements regulate endometrial-specific gene expression response to progesterone and cAMP.
Adam Siepel and colleagues estimate key parameters for ancient human demography using a Bayesian analysis of the whole-genome sequences of six individuals from diverse populations. They present new methods for coalescent-based inference of demographic parameters as well as a custom pipeline for genotype inference.
The Schizophrenia Psychiatric Genome-Wide Association Study Consortium reports five genetic loci newly associated with risk of schizophrenia, involving 17,836 cases of schizophrenia and 33,859 healthy controls. The new locus with the strongest support of association was located within an intron for microRNA 137, a known regulator of neuronal development. Four other genome-wide significant loci for schizophrenia contain predicted targets of MIR137, suggesting that disruption to pathways involving MIR137 may be an etiologic mechanism in schizophrenia.
The Psychiatric GWAS Consortium Bipolar Disorder Working Group reports a large-scale genome-wide association study of 7,481 individuals with bipolar disorder with replication in 4,493 cases. The Consortium identifies a new susceptibility locus near ODZ4 and replicates a known association near CACNA1C for bipolar disorder.
Michiaki Kubo and colleagues report a genome-wide association study for age-related macular degeneration in individuals of Japanese ancestry. They identify two genetic loci newly associated with this disease.
Paul Elliott, Martin Tobin, Cornelia van Duijn and colleagues report a genome-wide association study for pulse pressure and mean arterial pressure, identifying six new loci influencing these two traits.
Dianna Milewicz and colleagues report a genome-wide association study of sporadic thoracic aortic aneurysm and dissection. They identify an associated locus on 15q21 spanning the FBN1 gene.
Yoon Shin Cho and colleagues report a genome-wide association study for nine metabolic traits in east Asians. They identify ten new loci that are associated with these traits.
Andrea Ventura and colleagues report germline hemizygous deletions in the miR-17~92 cluster in individuals with features overlapping Feingold syndrome. Mice with targeted deletions in miR17~92 also display growth and skeletal defects.
Matthew Meyerson and colleagues report the whole-genome sequencing of primary colorectal tumors and matched adjacent non-tumor tissue from nine individuals with colorectal cancer. They identify a recurrent VTI1A-TCF7L2 fusion in 3% of colorectal cancers.
Hamish Scott and colleagues report that germline mutations in GATA2 segregate with myelodysplastic syndrome and acute myeloid leukemia in four pedigrees. The resulting alterations occur in a conserved zinc finger DNA-binding domain of GATA2.
Thomas Wiesner and colleagues report that germline mutations in BAP1 predispose to melanocytic tumors ranging histopathologically from epithelioid nevi to atypical melanocytic proliferations. Some BAP1 mutation carriers also developed uveal or cutaneous melanomas.
Joseph Testa, Michele Carbone and colleagues report that germline mutations in BAP1 predispose to malignant mesothelioma and uveal melanoma. They further hypothesize that mesothelioma predominates in BAP1 mutation carriers following exposure to asbestos.
John Chambers and colleagues report a genome-wide association study for type 2 diabetes in individuals of south Asian ancestry. They identify six loci newly associated with type 2 diabetes.
The Brassica rapa Genome Sequencing Project Consortium reports the draft genome of the B. rapa accession Chiifu-401-42, an inbred Chinese cabbage line. The B. rapa genome should provide a useful reference genome for the Brassica species, which include many important oil and vegetable crops.
Huai-Dong Song and colleagues report results of a genome-wide association study of Graves' disease. They confirm four previously reported risk loci for this disease and identify two new susceptibility loci at 4p14 and 6q27.