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Robert Blelloch and colleagues report the use of Dgcr8 knockout embryonic stem cells to identify ES cell-specific microRNAs that regulate the G1-S transition of the ES cell cycle.
Paul Brennan and colleagues report a genome-wide association study for lung cancer susceptibility. In addition to a previously reported variant at 15q25, they detect and replicate a new association at 5p15.33.
Jason Cooper and colleagues identify four new risk loci for type 1 diabetes through a meta-analysis of data from three genome-wide association studies, with replication in additional case-control and family-based samples, providing further insights into the genetic risk factors underlying this disease.
Benjamin Blencowe and colleagues report the application of next-generation sequencing technology to alternative splicing in the human genome. They detect alternative splicing events in 85% of multiexon genes, and conclude that there are approximately 100,000 such events in major human tissues.
Jason Johnson and colleagues present the first genome-scale compendium of human alternative splicing events in 48 tissues. These data constitute a rich resource for the study of splicing in the human genome and its impact on development, physiology and disease.
Recent progress in mapping quantitative growth traits (QTLs) in rice yields insights into mechanisms of plant growth, hints at genomic signatures of the domestication process and promotes the prospect of agricultural improvement via introgression of beneficial variants.
A newly described Lgr5-expressing cell population is poised to depose the reigning monarch of the follicular hierarchy, the label-retaining cell, to claim the title as stem cell of the hair follicle.
Two new studies identify PROG1, a gene underlying a quantitative trait locus that regulates rice tiller angle and that has likely been a target for artificial selection during rice domestication. Genetic manipulation of PROG1 has the potential to promote agronomically valuable traits.
A new study identifies the gene that, when mutated, causes autosomal recessive retinitis pigmentosa 25 (arRP25). The RP25 gene encodes an ortholog of Drosophila spacemaker (eyes shut), thus emphasizing common biological functions between Drosophila sensory systems and the human eye.
Two new studies report the results of genome-wide association analysis for androgenetic alopecia. The two major genetic loci identified set the scene for understanding the molecular basis of common male-pattern baldness.
Constitutional epigenetic defects affecting the 11p15.5 imprinted region cause a number of syndromic conditions involving birth defects. Now, an analysis of a large cohort of individuals with nonsyndromic Wilms tumor demonstrates the presence of known and newly identified constitutional IGF2-H19 imprinting defects, extending the phenotype associated with soma-wide 11p15.5 imprinting disorders.
Stanislav Kmoch and colleagues identify mutations in TMEM70 in individuals with isolated mitochondrial ATP synthase deficiency, and demonstrate that complementation of cell lines of affected individuals with wild-type TMEM70 restores ATP synthase function.