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Tomoo Ogi and colleagues report mutations of UVSSA causing a third complementation group of the UV-sensitive syndrome. UVSSA deficiency results in defective transcription-coupled nucleotide-excision repair and failure to resolve stalled RNA polymerase IIo at DNA damage sites.
Jurgen Marteijn, Wim Vermeulen and colleagues report proteomic identification of UVSSA in a UV-induced protein complex implicated in UV-sensitive syndrome. They show that knockdown of UVSSA impairs trancription-coupled nucleotide-excision repair.
Kiyoji Tanaka and colleagues report mutations of UVSSA causing a third complementation group of UV-sensitive syndrome. UVSSA deficiency results in defective transcription-coupled nucleotide-excision repair and failure to resolve stalled RNA polymerase IIo at DNA damage sites.
Jer-Yuarn Wu, Fuu-Jen Tsai, Yuan-Tsong Chen and colleagues report a genome-wide association study of Kawasaki disease. They show that common variants near BLK and CD40 influence susceptibility to this acute childhood vasculitis.
Yuta Kochi and colleagues report a meta-analysis of genome-wide association studies for rheumatoid arthritis in a Japanese population. They identify nine loci newly associated with rheumatoid arthritis in this population and consider overlap of associations with previous studies in European populations.
Yoshihiro Onouchi and colleagues report the results of a genome-wide association study of Kawasaki disease. They identify three new risk loci, all mapping near genes previously implicated in adult-onset autoimmune diseases.
Eli Stahl, Robert Plenge and colleagues report the application of a polygenic analysis, using a Bayesian inference framework, to rheumatoid arthritis GWAS datasets. They find that polygenic risk scores are associated with rheumatoid arthritis case-control status and estimate the total variance explained by common variants in these GWAS. They show comparable estimates for applications to GWAS for celiac disease, myocardial infarction and coronary artery disease and type 2 diabetes.
Expression quantitative trait loci (eQTLs) are the genetic units of gene expression variation. Julian Knight and colleagues report an analysis of cell type–specific eQTLs from positively purified primary monocytes and B cells. Among the trans-acting eQTLs identified, they report new master regulators of gene expression, as well as autoimmune disease associations to specific HLA alleles.
Naomichi Matsumoto and colleagues report mutations in the SWI/SNF chromatin remodeling complex in Coffin-Siris syndrome. Twenty affected individuals (87%) harbored mutations in one of six SWI/SNF subunit genes: SMARCB1, SMARCA4, SMARCA2, SMARCE1, ARID1A or ARID1B.
Peter Visscher and colleagues report a new method for approximate conditional and joint association analysis that makes use of summary statistics from meta-analysis of GWAS. They apply this to meta-analysis summary data for height, body mass index and type 2 diabetes.
To take advantage of hybrid vigor, most crop plants are grown with hybrid seeds, which are produced afresh by crossing elite inbred lines. Here, Erik Wijnker and colleagues demonstrate the feasibility of reverse breeding, a method that enables the generation of homozygous parental lines from a hybrid individual in the plant model organism Arabidopsis thaliana. Homozygous parents can be maintained indefinitely, better facilitating future improvements.
Domenico Accili and colleagues report that somatic ablation of Foxo1 in enteroendocrine progenitor cells leads to gut insulin-positive cells that have hallmarks of mature pancreatic β cells. Inactivating Foxo1 in the gut epithelium might provide a therapeutic mechanism for restoring insulin production in type 1 diabetes.
Johannes Schödel and colleagues report the identification of a distant transcriptional enhancer of CCND1 at the recently identified renal cell carcinoma susceptibility locus at 11q13.3. The protective haplotype shows reduced binding of HIF-2α, reduced interaction with the transcriptional machinery and allelic imbalance in CCND1 expression. The study suggests that the hypoxia pathway is misregulated in renal cell carcinoma development.
Simon Harris and colleagues report whole-genome sequencing of 36 Chlamydia trachomatis representative strains from temporally and geographically diverse sources and use this to construct a genome-wide phylogeny of the species. They find that epidemic spread can be driven by clonal expansion from a single source and also report evidence for recombination in recent clinical strains both within and between biovars.
Xavier Jeunemaitre, Jean-Jacques Schott and colleagues report mutations of KLHL3 in familial hyperkalemic hypertension. KLHL3 encodes a BTB-BACK-kelch family actin-binding protein and regulates cell surface localization of the NaNa+-Cl− cotransporter, a key regulator of ion resorption, at the distal nephron.
David Mitchell, Hannah Mitchison and colleagues identify a new Chlamydomonas protein required for the preassembly of axonemal dyneins before their transport into cilia. They further show that mutations in the homologous gene in humans result in primary ciliary dyskinesia accompanied by defects in the assembly of inner and outer dynein arms.
Konrad Hochedlinger and colleagues show that ascorbic acid enhances cellular reprogramming by preventing hypermethylation of the imprinted Dlk1-Dio3 locus. They use this approach to generate adult mice derived entirely from induced pluripotent stem cells obtained through reprogramming of terminally differentiated B cells.
Michael Talkowski and colleagues examine karyotypically balanced genomic rearrangement landscapes in the germline at single-nucleotide resolution. They find predominant roles for complex reorganization and non-homologous repair in such 'chromothripsis' processes, suggesting a mechanism of template switching and blunt-end ligation.
Olivier Delattre and colleagues report the discovery of a new subset of sarcoma defined by fusion of the BCOR and CCNB3 genes. By gene expression profiling, they show that BCOR-CCNB3–positive cases are biologically distinct from other sarcomas, particularly Ewing sarcoma.