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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.
Matthew Meyerson and colleagues report exome sequencing of solitary fibrous tumor (SFT), a rare mesenchymal tumor. They identify a NAB2-STAT6 fusion in 55% of cases.
William Harbour, Anne Bowcock and colleagues identify recurrent mutations at codon 625 of SF3B1 in uveal melanomas. These mutations occur in low-grade tumors and are associated with favorable prognosis.
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.
Stuart Macregor, Tien Wong and colleagues report meta-analyses that identify 16 new loci associated with central corneal thickness. They also identify two loci associated with risk of developing keratoconus, a common corneal ectasia.
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.
Roland Brosch and colleagues report whole-genome sequencing of tubercle bacilli with smooth colony morphology, also known as Mycobacterium canetti and/or Mycobacterium prototuberculosis, obtained from humans with tuberculosis from geographically diverse regions. Their comparative genomic analysis with Mycobacterium tuberculosis and other M. tuberculosis complex members identifies extensive recombination and provides insights into the evolution of mycobacteria. The authors also report that tubercle bacilli with smooth colony morphology show reduced persistence and virulence compared to M. tuberculosis strains in infection experiments in mice.
Ludmila Prokunina-Olsson, Thomas O'Brien and colleagues report the discovery of a new gene, INFL4, encoding interferon-λ4, that is upstream of INFL3 (IL28B). A compound dinucleotide frameshift genetic variant in INFL4 creates the full-length INFL4 protein and is more strongly associated with hepatitis C virus clearance in individuals of African ancestry than rs12979860, a known variant associated with clearance.