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Srinivasan Yegnasubramanian and colleagues show that androgen signaling promotes recruitment of androgen receptor and TOP2B to sites of TMPRSS2-ERG genomic breakpoints, triggering TOP2B-mediated double-strand breaks. These findings provide insights into the mechanism underlying this common prostate cancer gene fusion event.
Mark McCarthy and colleagues identify twelve new risk loci for type 2 diabetes through a large-scale genome-wide association and replication study in individuals of European ancestry. The identified loci affect both beta-cell function and insulin action and are enriched for genes involved in cell cycle regulation.
Suzanne Noble and colleagues present a library of ∼3,000 homozygous gene deletion strains of Candida albicans. The authors screened for infectivity in a mouse model and for yeast-to-hypha morphological switching. They identified 115 infectivity-attenuated mutants, half of which demonstrated normal morphological switching.
Sebastien Gagneux and colleagues report the genome sequences of 21 phylogeographically diverse Mycobacterium tuberculosis complex strains. Analysis of the global genetic diversity of these strains showed that most of the known human T cell epitopes were highly conserved.
Caroline Fox and colleagues report results of a large genome-wide association meta-analysis and replication study for indices of renal function. Their work identifies 13 new loci associated with renal function and 7 loci associated with creatinine production and secretion.
Matthew Hurles and colleagues report the sequencing of breakpoints for over 300 CNVs detected in genomes of three individuals, using targeted hybridization-based DNA capture and 454-sequencing.
Steven Perrin and colleagues identified the transcriptionally upregulated co-stimulatory pathway in the SOD1 mouse model of amyotrophic lateral sclerosis. Monoclonal anti-CD40L therapy delayed paralysis and extended survival.
Torbert Rocheford and colleagues show that variation at crtRB1 is associated with increased beta-carotene levels in maize. The most favorable crtRB1 allele is currently being introgressed into tropical germplasm, in order to address dietary vitamin A deficiency in the developing world.
Franco Taroni and colleagues report the identification of mutations in AFG3L2 that cause dominant spinocerebellar ataxia type 28. Along with paraplegin, AFG3L2 forms a protein complex with ATPase and metalloprotease activities and functions in the maintenance of the mitochondrial proteome.
David van Heel and colleagues report results of a large genome-wide association study of celiac disease. Most of the associated loci contain genes with immune functions, and over half harbor risk variants that are correlated with variation in cis gene expression.
Paul Gissen and colleagues show that mutations in VIPAR cause a syndrome marked by arthrogryposis, renal dysfunction and cholestasis accompanied by defects in epithelial polarization. Their functional studies suggest that VIPAR forms a functional complex with VPS33B that interacts with RAB11A.
Evan Eichler and colleagues identify a recurrent microdeletion on 16p12.1 associated with developmental, cognitive and neuropsychiatric phenotypes. They also show that more severe phenotypes are frequently correlated with the presence of a second large genomic rearrangement, supporting a complex model of pathogenesis that may underlie the variable expressivity typical of many microdeletion syndromes.
Pier Paolo Pandolfi and colleagues report that Dok family members, Dok1, Dok2 and Dok3, are lung tumor suppressors, as loss of Dok genes in mice leads to spontaneous lung adenocarcinoma. DOK2 is frequently deleted in human lung cancer and suppresses lung cancer cell growth.
The MAGIC investigators report results of a large genome-wide association study meta-analysis to identify common variants influencing fasting glucose homeostasis. They further show that several of the newly discovered loci influencing glycemic traits are also associated with risk of type 2 diabetes.
Hilma Holm and colleagues report genome-wide association studies to electrocardiographic measures of heart rate, PR interval, QRS duration and QT interval.