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Ivica Medugorac, Aurélien Capitan and colleagues use high-density SNP genotyping and whole-genome sequencing to infer bovine haplotypes in the genomes of 76 Mongolian yaks. They show that these introgressed regions are enriched for genes involved in nervous system development and function, supporting the idea that introgressive hybridization contributed to the improvement of yak management and breeding.
Saverio Minucci, Giancarlo Pruneri, Luca Magnani and colleagues identify acquired CYP19A1 amplification as a mechanism of resistance to aromatase inhibitors in ERα metastatic breast cancer. Mechanistically, they show that CYP19A1 amplification results in increased aromatase activity and estrogen-independent ERα binding to target genes.
Franco Locatelli, Dirk Reinhardt, Marry van den Heuvel-Eibrink, C Michel Zwaan, Maarten Fornerod, Tanja Gruber and colleagues report whole-exome and transcriptome sequencing of acute megakaryoblastic leukemia from pediatric and adult patients without Down syndrome (non-DS-AMKL). They find that pediatric non-DS-AMKL can be divided into seven subgroups characterized by chimeric oncogenes with cooperating mutations in epigenetic and kinase signaling genes.
Jens Lykke-Andersen, Frank Baas, Joseph Gleeson and colleagues report that mutations in the 3′ exonuclease TOE1 cause pontocerebellar hypoplasia type 7. They further show that these mutations result in the accumulation of incompletely processed small nuclear RNAs, leading to severe, early-onset neurodegeneration.
James Lee, Kenneth Smith and colleagues report a within-cases genome-wide association analysis for Crohn's disease to identify genetic loci specifically associated with disease severity and outcome. They find four loci associated with prognosis, none of which is associated with susceptibility to Crohn's disease.
Jeanne Amiel, Bernd Wollnik, Bruno Reversade and colleagues report de novo missense mutations in SMCHD1 in patients with Bosma arhinia microphthalmia syndrome (BAMS) and isolated arhinia. Mechanistic studies support a key role for SMCHD1 in nasal development and suggest that the mutations in patients may function via a gain-of-function mechanism.
Jeffrey Barrett, Carl Anderson and colleagues report the results of a large genome-wide association study of inflammatory bowel disease. They identify 25 new genome-wide significant loci, 3 of which contain integrin genes, and find that the associated variants at several of these loci are correlated with expression changes in response to immune stimulus.