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Wenbo Ma and colleagues show that two effectors from the oomycete plant pathogen Phytophthora sojae suppress RNA silencing in plants by inhibiting the biogenesis of small RNAs. These findings show that some eukaryotic pathogens, like their prokaryotic and viral counterparts, have evolved virulence proteins that target host RNA silencing processes to promote infection.
Andrew Wilkie and colleagues report that mutations in TCF12 cause coronal craniosynostosis. They found heterozygous mutations in 38 unrelated families.
George Mavrothalassitis, Andrew Wilkie and colleagues report the identification of mutations in ERF that cause a complex craniosynostosis disorder with multiple-suture synostosis, craniofacial dysmorphism, Chiari malformation and language delay. They also show that reduced dosage of Erf in mice causes craniosynostosis.
Rameen Beroukhim, Ian Dunn, William Hahn and colleagues report genome and exome sequencing of meningiomas. They identified recurrent somatic mutations in AKT1 and SMO.
John Maris, Matthew Meyerson, Marco Marra and colleagues report results of a large-scale sequencing study of neuroblastoma. They observe a low median exonic mutation frequency and strikingly few recurrently mutated genes in these tumors, highlighting challenges for developing targeted therapeutic strategies based on frequently mutated oncogenic drivers.
Minsheng You and colleagues report the whole-genome sequence of the diamondback moth, Plutella xylostella. Their transcriptome analysis from different life stages, together with comparative genomic and phylogenetic analysis, provides insights into herbivore evolution and insect adaptation to plant feeding and detoxification.
Michal Minczuk, Wolfram Kunz and colleagues report that loss-of-function mutations in MGME1 impair mitochondrial DNA replication and cause a multisystemic mitochondrial disease. Their functional studies show that MGME1 encodes a RecB-type exonuclease that cleaves single-stranded DNA and processes DNA flap substrates.
Arul Chinnaiyan and colleagues identify NAB2-STAT6 fusions in 52 of 52 solitary fibrous tumor cases. Overexpression of this fusion induced cell proliferation, which could be suppressed by knockdown of EGR1.
Daniel Kastner and colleagues report genome-wide association analyses for Behçet's disease, a condition characterized by episodic inflammation of the skin and eyes and an important cause of blindness. They identify four loci newly associated with Behçet's disease, an epistatic interaction between HLA-B*51 and ERAP1 and overlap with loci previously associated to related inflammatory disorders.
Jenefer Blackwell, Peter Donnelly and colleagues report a genome-wide association study for visceral leishmaniasis using studies from India and Brazil, with replication in an additional Indian study. They identify common variants at the HLA-DRB1–HLA-DQA1 HLA class II region associated with susceptibility to visceral leishmaniasis.