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Brian Oliver, Jason Lieb, Christine Disteche and colleagues present an analysis of expression data in mammals, C. elegans and Drosophila. They conclude that dosage compensation corrects the imbalance in the number of X chromosomes relative to autosomes by upregulating X-linked genes in both males and females.
Soumya Raychaudhuri and Johanna Seddon and colleagues report the identification of a rare penetrant mutation in CFH that associates with increased risk of age-related macular degeneration.
Martin Hibberd, Cameron Simmons and colleagues report a genome-wide association study for dengue shock syndrome, a severe complication of dengue, in pediatric cases and controls from Vietnam. They identify common variants at MICB within the broad MHC region on chromosome 6 and at PLCE1 on chromosome 10 associated with dengue shock syndrome in people with dengue.
John Chambers and colleagues report a genome-wide association study for markers of liver function. They identify 42 loci associated with concentrations of one or more liver enzymes in plasma, and use a range of functional genomic analyses to suggest candidate genes at these loci.
Amos Tanay and Eitan Yaffe report methods to correct biases in the Hi-C method for mapping chromosomal contacts on a genome-wide scale. Their analysis of Hi-C data shows interchromosomal aggregation of hypersensitive sites, transcriptionally active foci and other epigenetic markers of active chromatin.
Timothy Bishop and colleagues of the GenoMEL Consortium report a genome-wide association study for melanoma, identifying three new susceptibility loci.
Fanni Gergely, Geoffrey Woods and colleagues identify a disease-associated CEP63 mutation in a family with primary microcephaly. They further show that CEP63 and CEP152 interact and form a discrete ring around the proximal end of the parental centriole, implicating this complex in the regulation of centrosome number.
Mark Daly, Manuel Rivas and colleagues used next-generation sequencing to study the coding exons of 56 genes from regions previously associated with Crohn's disease. Follow-up analyses in independent case-control series confirmed association of many newly discovered rare variants with disease risk.
Stuart MacGregor and colleagues report the results of a genome-wide association study for melanoma susceptibility in an Australian population. They identify a new melanoma susceptibility locus on chromosome 1.
Patrick Sulem, Daniel Gudbjartsson, Bragi Walters and colleagues identify two low-frequency variants associated with serum uric acid levels and gout in the Icelandic population. The variants were discovered by whole-genome sequencing and are associated with two- to threefold differences in disease risk.
Using a combination of whole-genome sequencing, haplotype sharing and the genealogies of the Icelandic population, Thorunn Rafnar, Kari Stefansson and colleagues identified a rare coding mutation in the gene of a BRCA1-interacting factor, BRIP1, that confers a high relative risk of ovarian cancer.
Jim Lupski and colleagues report characterization of complex genomic rearrangements at the MECP2 and PLP1 loci. They show that all the complex rearrangement products share a common genomic organization wherein the triplicated segment is inverted and located between directly oriented duplicated genomic segments; these structures are mediated by inverted repeats that can be separated by over 300 kb.
Dirk Schübeler and colleagues report an experimental strategy to identify genetic elements that autonomously determine DNA methylation states in murine stem cells. They identified promoter sequences that supported proper de novo methylation during differentiation and determined that this activity is contained within small methylation-determining regions.
Shireen Lamandé and colleagues report mutations in TRPV4 in familial digital arthropathy-brachydactyly (FDAB), which is characterized by osteoarthropathy of the fingers and toes. TRPV4 is a cation channel, and functional experiments suggest mutant proteins are not localized properly to the cell surface.
John Doebley and colleagues have identified a transposon insertion in the maize domestication gene, tb1, that acts as a regulatory enhancer. The transposon insertion appears to be a causative variant that partially explains major changes in plant architecture during maize domestication.
Simon Stacey, Kari Stefansson and colleagues show that a germline variant in the TP53 polyadenylation signal is associated with increased risk of basal cell carcinoma and other solid tumors.
Yardena Samuels and colleagues sequenced G protein-coupled receptors in 11 melanoma samples and report a comprehensive map of somatic variants in the GPCR gene family. They find frequent mutations in GRM3, which promote proliferation and migration of melanoma cells.
Vincent Lynch and colleagues report the transcriptional landscapes of endometrial stromal cells from placental and marsupial mammals and identify 1,532 genes that are expressed in human and armadillo but not opossum. The authors suggest these genes were recruited into endometrial stromal cells during the evolution of pregnancy in placental mammals. Thirteen percent of these genes are located within 200 kb of a MER20 transposable element, and functional experiments show that MER20 elements regulate endometrial-specific gene expression response to progesterone and cAMP.
Martin Tobin and colleagues report a meta-analysis of 23 genome-wide association studies for pulmonary function. They identify 16 loci newly associated with variation in two cross-sectional measures of lung function, used to define airway obstruction and to grade the severity of obstruction.