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Nicholas Cross and colleagues report the identification of somatic mutations altering the histone methyltransferase EZH2 in myeloid disorders. They identify monoallelic and biallelic EZH2 mutations in 7% of myeloid disorders, most commonly myelodysplastic and/or myeloproliferative neoplasms and myelofibrosis.
Samuel Singer and colleagues report an integrative genomic analysis of soft-tissue sarcomas. They survey sequence, copy number and mRNA expression in 207 individuals diagnosed with one of seven major high-grade sarcoma subtypes, and highlight subtype-specific alternations.
Takeshi Izawa and colleagues report that the rice florigen gene Hd3a, which triggers photoperiodic flowering, is toggled by a 30-minute change in day length. They report that Hd3a transcription is controlled by two gating mechanisms involving the floral promoter Ehd1 and the floral repressor Ghd7.
Clare Turnbull and colleagues identify three new risk loci for testicular germ cell cancer. The newly discovered risk variants reside near the telomere regulator genes TERT and ATF7IP and the sex determination gene DMRT1.
Guillaume Bourque and colleagues report genome-wide binding profiles of the OCT4, NANOG and CTCF proteins in human ES cells as determined by ChIP-sequencing. They find that the binding profiles of OCT4 and NANOG are different in human and mouse ES cells, and some of the differences in bound sites are due to transposable elements.
Andrew Johnson and colleagues report a genome-wide association study for platelet aggregation in response to three different agonists, ADP, collagen and epinephrine.
Youwen Zhou and Xue-Jun Zhang and colleagues report a genome-wide association study of generalized vitiligo, a common autoimmune disorder characterized by loss of melanocytes and depigmentation. The authors identify two independent associations within the MHC region and one new susceptibility locus on chromosome 6q27, which contains the genes RNASET2, FGFR1OP and CCR6.
Joseph Gleeson and colleagues report that mutations in TMEM216 cause Joubert, Meckel and related syndromes. They further show that TMEM216 localizes to the base of cilia and that its loss leads to defects in ciliogenesis and centrosome docking.
Yi-Xin Zeng and colleagues performed a genome-wide association study for nasopharyngeal cancer in Southern Chinese. The authors report three new susceptibility loci for nasopharyngeal cancer.
George Daley and colleagues show that transgenic mice expressing elevated levels of Lin28a have increased body size and delayed onset of puberty. These findings support human association studies implicating the LIN28B locus in height variation and timing of menarche.
Motoyuki Ashikari and colleagues report the identification of OsSPL14 as a gene that regulates plant architecture in rice. OsSPL14 is regulated by miRNA156, promotes panicle branching and enhances rice grain yield.
Jiayang Li and colleagues report the positional cloning of the Ideal Plant Architecture (IPA1) QTL in rice. The gene OsSPL14 underlies the IPA1 locus and regulates plant architecture and enhances rice grain yield.
Jan Cools and colleagues identify deletions in PTPN2 in T-cell acute lymphoblastic leukemia. Inactivation of PTPN2 leads to an increase in cell proliferation in mouse T-ALL cells.
Eli Stahl and colleagues report results of a genome-wide association study meta-analysis and replication study for rheumatoid arthritis. Their work identifies several new risk loci and highlights genetic overlap with other autoimmune diseases.
Yuta Kochi and colleagues identify a regulatory variant in CCR6 associated with susceptibility to rheumatoid arthritis. CCR6 encodes a chemokine receptor expressed on a subset of helper T cells known as Th17 cells, suggesting a possible role for CCR6 in Th17-driven autoimmunity.
Stuart Ralston and colleagues report results of a genome-wide association study for Paget's disease of bone. Their work identifies common variants at three loci associated with risk of this disease.
Kevin Campbell and colleagues isolate DNA from extinct woolly mammoths and resurrect mammoth hemoglobin. The authors identify three amino acid substitutions that reduce the energetic requirements of heme deoxygenation, which may have played a role in the adaptation of the woolly mammoth from tropical to arctic environments.
Terri Beaty and colleagues report a genome-wide association study of cleft lip with/without cleft palate. They identified variants near MAFB and ABCA4 associated with risk of this birth defect in case-parent trios of European and Asian ancestry.
Jonathan Marchini and colleagues with the Ox-GSK consortium report a meta-analysis for smoking phenotypes from 20 studies including 41,150 individuals, confirming an association at the CHRNA5–CHRNA3 locus on 15q25 to smoking quantity. They use imputation based on 1,000 Genomes Project Pilot 1 data to refine the association at this locus.