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Donald Ganem and colleagues report a microarray-based approach to identify microRNA targets. They identify BCLAF1 as a target of miR-K5, a microRNA encoded by the Kaposi's sarcoma–associated herpesvirus.
En Li and Taiping Chen and colleagues report that lysine specific demethylase 1 (LSD1, also known as AOF2) demethylates and stabilizes DNA methyltransferase 1 (Dnmt1), and that deletion of Aof2 in embryonic stem cells induces progressive loss of DNA methylation.
David Reich and colleagues report evidence for accelerated genetic drift on the X chromosome, on the basis of population genetic analyses comparing patterns of genetic variation on the X chromosome and the autosomes in West African, North European and East Asian datasets.
Marjolijn Ligtenberg and Suet Leung and colleagues report the identification of germline deletions in TACSTD1, a gene directly upstream of MSH2, in families with Lynch syndrome. The deletions result in transcriptional read-through of TACSTD1 into MSH2, and methylation and silencing of the MSH2 allele.
Alexandra-Chloé Villani and colleagues have identified SNPs located on chromosome 1q44 downstream of the NLRP3 gene that are associated with increased risk of Crohn's disease.
Unnur Styrkarsdottir and Kari Stefansson and colleagues report the results of an expanded genome-wide association study for bone mineral density at the hip or the spine. New SNP associations were identified downstream of the SOST gene on 17q21, and in intron 1 of the MARK3 gene on 14q32.
Joel Hirschhorn and colleagues report results of a large-scale genome-wide association and replication study for obesity-related traits. The newly discovered loci are enriched for genes expressed in the central nervous system, and may thus contribute to weight gain by modulating food intake. Similar results are reported in a related study by Gudmar Thorleifsson and colleagues.
Stephen Robertson and colleagues report that germline mutations in WTX cause an X-linked sclerosing bone dysplasia marked by increased bone density and craniofacial malformations in females and lethality in males. In contrast with previous reports showing frequent somatic inactivation of WTX in Wilms tumor, individuals with germline WTX mutations are not predisposed to cancer.
Mikka Vikkula and colleagues report somatic mutations in the gene encoding the receptor tyrosine kinase TIE2 in inherited and common sporadic venous malformations. These mutations alter localization of the receptor and its response to ligand.
Gudmar Thorleifsson and colleagues report results of a large-scale genome-wide association and replication study for obesity-related traits. The newly discovered loci are enriched for genes expressed in the central nervous system, and may thus contribute to weight gain by modulating food intake. Similar results are reported in a related study by Joel Hirschhorn and colleagues.
A. Kemal Topaloglu and colleagues report the identification of mutations in the neurokinin B receptor and its ligand in families with severe congenital gonadotropin deficiency and pubertal failure. These findings indicate that neurokinin B is a central regulator of human gonadal function.
Philippe Froguel and colleagues report an association of variants near the gene encoding melatonin receptor 2 with fasting glucose levels and risk of type 2 diabetes. The association suggests a possible link between circadian rhythm and glucose homeostasis.
Sekar Kathiresan et al. report genome-wide association studies for polygenic dyslipidemia. From a meta-analysis of seven genome-wide association studies and follow-up in five replication studies, they identify 11 new genetic associations for LDL cholesterol, HDL cholesterol and triglycerides.
Gonçalo Abecasis and colleagues report associations with fasting plasma glucose levels in a collection of ten genome–wide association scans from the MAGIC consortium. They find variants in the gene encoding melatonin receptor 1B that are associated with fasting glucose levels and, in a meta-analysis of 13 case-control studies, also show association with increased risk of type 2 diabetes.
Leif Groop and colleagues report that, in prospective studies, a variant in the gene encoding melantonin receptor 1B influences future risk of type 2 diabetes. Insulin release from pancreatic beta cells in response to glucose was inhibited by melatonin.
Nelson Freimer and colleagues report the first genome-wide association study of a longitudinal birth cohort (the Northern Finland Birth Cohort 1966). The results include new associations for nine quantitative metabolic traits.
Leena Peltonen and colleagues report a genome-wide association study of cholesterol and triglyceride levels in 16 population-based cohorts across Europe. Six new loci were identified, and overall a genetic risk score improves the screening of high risk groups for dyslipidemia.
Tissue-specific expression of mRNA isoforms and interindividual differences in isoform usage can now be quantitated by genome-wide assays, both by custom microarray and by next-generation sequencing.
Copy number variation has emerged as an important type of genetic risk factor for developmental disorders, including the neurodevelopmental disorders schizophrenia, autism and mental retardation. The highly pleiotropic effects observed for specific copy number variants (CNVs) challenge current classification of these disorders, but also provide opportunities to understand their origins and the relationships between them.