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Josef Penninger and colleagues show that deletion of the stress kinase MKK7 in mouse models of lung and mammary tumors accelerates tumor onset and reduces overall survival. The study suggests that MKK7 is a sensor of oncogenic stress.
Steven McCarroll and colleagues report an analytical framework for characterizing genome deletion polymorphism in populations, applied here to the low coverage genome sequences of 168 individuals from the 1000 Genomes Project. Their population-aware analysis enables structural inference with greater accuracy than previous methods.
Mary Relling and colleagues explore the effects of ancestry on the pharmacogenomics of relapse in acute lymphoblastic leukemia. They found that Native American ancestry was associated with risk of relapse but that differences in relapse risk were abrogated by the addition of a single extra phase of chemotherapy.
John Rioux and colleagues report results of a large genome-wide association meta-analysis and follow-up study of ulcerative colitis. They identify 29 new risk loci for this inflammatory disease and show that many risk loci are shared between ulcerative colitis and Crohn's disease.
Rulla Tamimi and colleagues report a meta-analysis of five genome-wide association studies for percent mammographic density. They identify an associated locus at ZNF365, which has also been associated with susceptibility to breast cancer.
Paul Hofman and colleagues show that a synonymous variant in IRGM, previously associated with risk of Crohn's disease, alters a binding site for miR-196 and causes deregulation of IRGM-dependent xenophagy. These findings implicate this synonymous polymorphism as a likely causal variant underlying the association of IRGM with Crohn's disease.
Massimo Zeviani and colleagues report mutations in TTC19 cause mitochondrial defects and progressive encephalopathy in humans. Adult flies lacking TTC19 function also display signs of neurological impairment.
Phil Beales and colleagues show that mutations in the lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome, a disorder that includes craniofacial defects, learning disability and other developmental phenotypes. They also present evidence that the COLEC11 gene product serves as a guidance cue for neural crest cell migration.
John Stamatoyannopoulos, Gordon Hager and colleagues report that up to 95% of induced de novo genomic binding by the glucocorticoid receptor is targeted to pre-existing foci of accessible chromatin.
Nicholas Katsanis and colleagues show that biallelic mutations in TTC21B, encoding the retrograde intraflagellar transport protein IFT139, are associated with diverse ciliopathy phenotypes in humans. They further show that pathogenic alleles of TTC21B are present in as many as 5% of ciliopathy cases, supporting an oligogenic model of disease.
Antonio Giraldez and colleagues report that miRNA-mediated regulation of the sdf1 chemokine signaling pathway in zebrafish provides genetic robustness to germ cell migration.
Johan P de Winter and colleagues report the identification of mutations in SLX4 in a new Fanconi anemia subtype. SLX4 regulates structure-specific endonucleases, important enzymes in the DNA damage response.
Agata Smogorzewska and colleagues report mutations in SLX4 in a new subtype of Fanconi anemia. SLX4 is an endonuclease involved in DNA maintenance and repair.
Ketan Patel and colleagues report a new mouse model of Fanconi anemia. The authors show that mice deficient in Btbd12, the mouse ortholog of SLX4 (a new Fanconi anemia gene), phenocopy the human disease.
Robbie Waugh and colleagues show that INTERMEDIUM-C, a locus that modifies spikelet fertility in barley, is encoded by an orthologue of the maize domestication gene TEOSINTE BRANCHED 1. Differences in spikelet fertility contributed to barley domestication.
Ed Buckler and colleagues report a genome-wide association study for leaf architecture in the maize nested association mapping population. Genetic variation at the ligueless genes is associated with leaf angle, an important agronomic trait.
James Holland and colleagues report a genome-wide association study for resistance to Southern Leaf Blight (SLB) in the maize nested association mapping population. Linkage mapping identified 32 QTLs linked to SLB resistance, and association tests showed that 51 SNPs, many located within the QTL intervals, are significantly associated with SLB resistance.
Andrea Superti-Furga and colleagues report that mutations in ACP5, which encodes tartrate-resistant phosphatase, cause spondyloenchondrodysplasia, a syndrome of skeletal dysplasia, cerebral calcifications and autoimmunity. The affected individuals had elevated levels of phosphorylated osteopontin.
Aida Bertoli-Avella and colleagues report the identification of SMAD3 mutations in individuals with a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis. The mutations cause increased aortic expression of components of the TGF-β signaling pathway.
Yanick Crow and colleagues show that mutations in ACP5, which encodes tartrate-resistant acid phosphatase, cause spondyloenchondrodysplasia, a bone dysplasia with autoimmunity. The affected individuals had elevated serum interferon alpha activity.