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Craig Pikaard and colleagues show that AGO4 is recruited to target loci through physical interactions with nascent RNA polymerase V transcripts. They also show that the SMC hinge-domain protein DMS3 functions in the assembly of Pol V transcription complexes.
Miguel Moreno-Pelayo and colleagues report mutations in the seed region of human miR-96 segregating with progressive hearing loss in two families. In an accompanying paper, Karen Steel and colleagues show that the mouse diminuendo mutant, which also shows progressive hearing loss, carries a similar mutation in the seed region of mouse miR-96.
Karen Steel and colleagues report that the mouse diminuendo mutant, which shows progressive hearing loss, carries a mutation in the seed region of mouse miR-96. In an accompanying paper, Miguel Moreno-Pelayo and colleagues report similar mutations in the seed region of human miR-96 segregating with progressive hearing loss in two families.
Alec Jeffreys and Rita Neumann identify a polymorphic recombination hot spot that was activated by a single base change roughly 70,000 years ago and has persisted in the human population despite its systematic elimination by biased gene conversion. The work provides the first example of a highly transient recombination hot spot in the human population.
Yusuke Nakamura and colleagues report results of a genome-wide association study for chronic hepatitis B in East Asians. They discover strong association with markers in the HLA-DP region, suggesting an important role for this locus in modulating the course of HBV infection.
Irwin McLean and colleagues show that the flaky tail mouse mutant has a frameshift mutation in the gene encoding filaggrin. Topical application of allergen to flaky tail mice results in skin inflammation and enhanced cutaneous allergen priming, shedding light on the mechanisms underlying filaggrin-related atopic disease.
Young-Ae Lee and colleagues report results of a genome-wide association study for atopic dermatitis. They identify a risk locus on chromosome 11q13 in a region previously associated with risk of Crohn's disease.
Douglas Easton and colleagues report results of a large multistage genome-wide association study of breast cancer. The study identifies two new breast cancer risk loci on chromosomes 3p24 and 17q23.2.
David Hunter and colleagues report results of the CGEMS multistage genome-wide association study of breast cancer. They identify two new risk variants on chromosomes 1p11.2 and 14q24.1, and confirm several previously reported breast cancer risk loci.
Wei Yan and colleagues report that many X-linked microRNAs escape meiotic sex chromosome inactivation (MSCI) during spermatogenesis. The authors speculate that such miRNAs may contribute to the process of MSCI or may regulate autosomal mRNAs during the latter stages of meiosis.
Robert Kralovics and colleagues report that the JAK2V617F somatic mutation that drives the development of chronic myeloproliferative neoplasms is associated with the presence of a specific inherited haplotype in JAK2.
Nick Cross and colleagues report that the JAK2V617F somatic mutation that drives the development of chronic myeloproliferative neoplasms is associated with the presence of a specific inherited haplotype in JAK2.
Ross Levine and colleagues report that the JAK2V617F somatic mutation that drives the development of chronic myeloproliferative neoplasms is associated with the presence of a specific inherited SNP in JAK2.
Elisabeth Mangold and colleagues carried out a genome-wide association study for nonsyndromic cleft lip with or without cleft palate, and report a locus on 8q24.21 that is strongly associated with this phenotype.
Michael Taylor and colleagues identify copy number aberrations of genes with critical roles in writing, reading, removing and blocking the state of histone lysine methylation, indicating that defective control of the histone code contributes to the pathogenesis of medulloblastoma.
Jung Kyoon Choi and Young-Joon Kim analyze published genome-wide datasets and show that a nucleosome is commonly positioned at a critical gene regulatory region flanking promoters that respond variably to external signals. The preference for nucleosome binding at this position is encoded by the DNA sequence itself.
Marie-Paule Roth and colleagues report that targeted disruption of Bmp6 in mice leads to a rapid and massive accumulation of iron in several tissues, showing that it is critical for iron homeostasis.
Jodie Babitt and colleagues report that Bmp6-null mice have a phenotype that resembles hereditary hemochromatosis, with increased serum iron concentration and tissue iron overload. Administration of Bmp6 increases hepcidin expression and reduces serum iron, suggesting that Bmp6 is a key endogenous regulator or iron metabolism in vivo
Trudy Mackay and colleagues measure sleep phenotypes in 40 wild-derived Drosophila lines, and report candidate genes and transcriptional networks associated with sleep regulation.