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George Vassiliou, Allan Bradley and colleagues perform a Sleeping Beauty transposon mutagenesis screen to identify insertions that cooperate with mutant Npm1 to produce acute myeloid leukemia (AML) in mice. They observed mutually exclusive integrations in Csf2, Flt3 or Rasgrp1 in a high percentage of cases, providing insights into the molecular pathogenesis of this AML subtype.
Sakari Kauppinen and colleagues report a method for silencing miRNA families in vivo. They find that seed-targeting 8-mer LNA oligonucleotides, termed tiny LNAs, can lead to long-term miRNA silencing in normal tissues and breast tumors in mice.
Francois Spitz and colleagues report GROMIT, a Sleeping Beauty transposon–based system for mapping genetic regulatory architecture in mouse. GROMIT is a regulatory sensor that responds to the activity of nearby enhancers.
George Patrinos and colleagues report the first implementation of the microattribution approach to systematically document genetic variation associated with a disease, applied here to hemoglobinopathies and thalassemias. They developed a series of connected locus-specific databases that document genotype and phenotype information for genetic variation in 37 globin and erythroid protein genes in individuals with globin disorders, with reciprocal attribution to data contributors.
Zhu Chen, Sai-Juan Chen and colleagues report exome sequencing of acute monocytic leukemia, a subtype of acute myeloid leukemia. They identified somatic mutations of DNMT3A, which encodes a DNA methyltransferase, in 20% of cases.
Ali Gharavi, Rick Lifton and colleagues report a genome-wide association study for IgA nephropathy, a major cause of kidney failure. They identify five susceptibility loci.
Carl Anderson and colleagues report a genome-wide association study identifying 13 new susceptibility loci for primary biliary cirrhosis, a chronic autoimmune liver disease.
Cédric Le Caignec and colleagues show that truncating mutations in the last exon of NOTCH2 cause Hajdu-Cheney syndrome, a rare disorder marked by facial anomalies, osteoporosis and multiple organ defects. The mutations are predicted to result in an increase in NOTCH2 signaling.
Richard Trembath and colleagues show that mutations in NOTCH2 cause Hajdu-Cheney syndrome, a multisystem disorder marked by severe and progressive bone loss. The mutations are predicted to result in elevated NOTCH2 signaling.
The Coronary Artery Disease Genetics Consortium report a meta-analysis of genome-wide association studies for coronary artery disease (CAD) in discovery and replication cohorts including both European and South Asian studies. They identify five loci newly associated with CAD.
Heribert Schunkert and colleagues report a meta-analysis of 14 genome-wide association studies of coronary disease (CAD) followed by replication in additional cohorts. They confirm 10 previously associated loci and identify 13 loci newly associated with CAD.
Hilma Holm et al. report a rare missense variant MYH6 that is associated with a high risk of sick sinus syndrome in Icelanders. This heart condition is found most often in elderly people and is the most frequent reason a heart pacemaker is implanted.
Qing Wang and colleagues report a genome-wide association study for coronary artery disease (CAD) in a Chinese Han population. They identify a locus on chromosome 6p24.1 newly associated with CAD.
Andrew Jackson, Ernie Bongers and colleagues report the identification of mutations in five genes in individuals with Meier-Gorlin syndrome. The five genes, ORC1, ORC4, ORC6, CDT1 and CDC6, all encode components of the pre-replication complex.
Mark O'Driscoll, Andrew Jackson and colleagues report the identification of mutations in ORC1 in individuals with microcephalic primordial dwarfism. ORC1 encodes the largest subunit of the origin recognition complex.
Birgitte Lane and colleagues show that Ferguson-Smith disease, an autosomal dominant skin cancer condition characterized by the development of multiple self-healing tumors, is caused by a disease-specific spectrum of mutations in TGFBR1.