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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.
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.
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.
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.