Thank you for visiting nature.com. You are using a browser version with limited support for CSS. To obtain
the best experience, we recommend you use a more up to date browser (or turn off compatibility mode in
Internet Explorer). In the meantime, to ensure continued support, we are displaying the site without styles
and JavaScript.
A new study reports a comprehensive survey of genetic diversity in natural populations of the nematode Caenorhabditis elegans. Their analyses suggest that recent chromosome-scale selective sweeps have reduced C. elegans genetic diversity worldwide and strongly structured genetic variation across its genome.
A new study refines the association signals for rheumatoid arthritis susceptibility in the major histocompatibility complex (MHC) region to five amino-acid positions encoded in three HLA genes, all within peptide-binding grooves. By adapting statistical methods from genome-wide association studies (GWAS) and using imputation from a large reference panel, they demonstrate the potential for this approach to identify functional variants in associated regions.
Bjarne Udd and colleagues show that mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 result in limb-girdle muscular dystrophy. Their studies suggest that the mutations reduce the protective anti-aggregation effects of DNAJB6, leading to protein accumulation and autophagic pathology.
Joris Vermeesch, Raoul Hennekam and colleagues show that missense mutations in the SWI/SNF family member gene SMARCA2 cause Nicolaides-Baraitser syndrome, a disorder characterized by sparse hair, distinctive facial morphology, distal limb anomalies and intellectual disability. The mutations cluster to sequences encoding ultra-conserved motifs in the catalytic ATPase region of the protein and likely act in a dominant-negative or gain-of-function fashion.
Cornelis Albers, Cedric Ghevaert and colleagues report that a majority of thrombocytopenia with absent radii (TAR) syndrome cases are caused by compound heterzygosity of a null allele and a low-frequency SNP in the regulatory regions of the RBM8A gene, which encodes the Y14 subunit of the exon-junction complex (EJC). TAR syndrome is the first reported human disorder caused by a defect in an EJC component.
William Dobyns, Daniela Pilz and colleagues show that de novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome, a developmental disorder characterized by distinct craniofacial features, ocular colobomata and defects in neuronal migration.
Naomi Wray, Peter Visscher and colleagues report analyses of the common variation that contributes to schizophrenia risk within three independent case-control datasets from the Psychiatric GWAS Consortium for schizophrenia. They estimate that 23% of the variation in liability to schizophrenia is captured by SNPs on current platforms.
Jeremy Green and colleagues determine that the mechanism establishing the pattern of rugae on the embryonic vertebrate palate is an activator-inhibitor reaction-diffusion mechanism rather than an alternative pattern signaling system, such as lateral inhibition.
Yukinori Okada and colleagues report a genome-wide association study for body mass index (BMI) in east Asians. They identify genetic variants associated with BMI near CDKAL1 and KLF9.
Xiao-Ou Shu and colleagues report a meta-analysis of genome-wide association studies for body mass index (BMI) in east Asians. They identify three new genetic loci associated with BMI.
Xue Zhang, Jing Yu Liu and colleagues report SLC20A2 mutations in familial idiopathic basal ganglia calcification (IBGC, also known as Fahr disease). These mutations impair the function of the type III phosphate transporter encoded by SLA20A2 and may disturb phosphate homeostasis in the body.
Olivier Delattre and colleagues report a genome-wide association study of Ewing sarcoma. They identify common variants near TARDBP and EGR2 influencing susceptibility to this rare pediatric tumor.
Gil McVean and Iain Mathieson report an analysis of the differential effects of population stratification on rare and common variants within association studies. They find that rare variants may show stronger stratification in some situations and that this is not corrected for by current structure methods, suggesting the need for the development of new statistical methods.
Christian Meyer and colleagues follow a previously reported GWAS for tuberculosis susceptibility with association analyses using 1000 Genomes Project imputation in two African studies and replication in Indonesian and Russian cohorts. They identify a new tuberculosis susceptibility locus on chromosome 11p13.
Bjark Feenstra, Mads Melbye and colleagues report the association of three SNPs with infantile hypertrophic pyloric stenosis, a common digestive system disorder in newborns. The associated SNPs are located near MBNL1 and NKX2-5.
Eamonn Maher and colleagues report germline mutations in DIS3L2 causing the Perlman syndrome of overgrowth and susceptibility to Wilms tumor. DIS3L2 encodes a protein with exoribonuclease activity in the RNA exosome complex.
Hugh Markus, Peter Donnelly and colleagues report a genome-wide association study for ischemic stroke. They identify a SNP in HDAC9, a histone deacetylase gene, that is associated with large vessel ischemic stroke and suggest subtype-specific associations to ischemic stroke.
Suzanne Baker and colleagues sequenced the whole genomes of seven pediatric brainstem glioblastomas and matched normal tissue. They found that 78% of diffuse intrinsic pontine gliomas and 22% of non-brainstem pediatric glioblastomas contained a mutation in H3F3A, encoding histone H3.3, or in the related HIST1H3B, encoding histone H3.1, causing a p.Lys27Met amino acid substitution in each protein.
Peter Donnelly and colleagues report sequencing of 62 pneumococcal isolates sampled from a CDC surveillance program. They characterize five independent instances of vaccine escape recombination through capsular switches, providing insight into the role of recombination in remodeling pneumococcal genomes under selective pressure and in the population dynamics of this pathogen.