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Steve Younkin and colleagues report the results of a genome-wide association study for late-onset Alzheimer's disease. A variant on the X chromosome in PCDH11X is associated with increased risk of the disorder. PCDH11X encodes a protocadherin and is a member of a cell surface receptor molecule family.
Xue Zhang and colleagues report mutations in an inhibitory upstream open reading frame flanking the human hairless gene in individuals with Marie Unna hereditary hypotrichosis. These mutations result in increased translation of the main physiological hairless ORF, suggesting that fine-tuning of hairless protein levels is important in the control of hair growth.
Timothy Nelson and colleagues present a transcriptome atlas of 40 key cell types from rice (Oryza sativa). The atlas reveals previously unrecognized cellular properties, and should serve as an essential resource for functional genomic analyses of rice and other plants.
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.
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.
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.
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.
Klaus Schwarz and colleagues report mutations in the gene encoding mitochondrial adenylate kinase 2 in reticular dysgenesis, the most severe form of inborn combined immunodeficiency, characterized by the absence of granulocytes and almost complete deficiency of lymphocytes in peripheral blood.
Marina Cavazzana-Calvo and colleagues report mutations in the gene encoding mitochondrial adenylate kinase 2 in reticular dysgenesis, the most severe form of inborn combined immunodeficiency, characterized by the absence of granulocytes and almost complete deficiency of lymphocytes in peripheral blood.
Michael Elowitz and colleagues demonstrate that dynamic correlations in gene expression noise, as revealed using single-cell time-lapse microscopy showing time lags due to regulation, can be used to characterize active regulatory links in a synthetic and an endogenous network.
Eric Shoubridge and colleagues report that the mitochondrial DNA genetic bottleneck occurs during postnatal ovarian folliculogenesis, when a subpopulation of mtDNAs is preferentially replicated.
Gavin Sherlock and colleagues report an experimental genome evolution study in Saccharomyces cerevisiae demonstrating adaptive evolution by clonal interference.