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R Sanchis-Ojeda DC Fabrycky JN Winn T Barclay BD Clarke EB Ford JJ Fortney JC Geary MJ Holman AW Howard JM Jenkins D Koch JJ Lissauer GW Marcy F Mullally D Ragozzine SE Seader M Still SE Thompson 《Nature》2012,487(7408):449-453
The Sun's equator and the planets' orbital planes are nearly aligned, which is presumably a consequence of their formation from a single spinning gaseous disk. For exoplanetary systems this well-aligned configuration is not guaranteed: dynamical interactions may tilt planetary orbits, or stars may be misaligned with the protoplanetary disk through chaotic accretion , magnetic interactions or torques from neighbouring stars. Indeed, isolated 'hot Jupiters' are often misaligned and even orbiting retrograde. Here we report an analysis of transits of planets over starspots on the Sun-like star Kepler-30 (ref. 8), and show that the orbits of its three planets are aligned with the stellar equator. Furthermore, the orbits are aligned with one another to within a few degrees. This configuration is similar to that of our Solar System, and contrasts with the isolated hot Jupiters. The orderly alignment seen in the Kepler-30 system suggests that high obliquities are confined to systems that experienced disruptive dynamical interactions. Should this be corroborated by observations of other coplanar multi-planet systems, then star-disk misalignments would be ruled out as the explanation for the high obliquities of hot Jupiters, and dynamical interactions would be implicated as the origin of hot Jupiters. 相似文献
134.
De novo mutations revealed by whole-exome sequencing are strongly associated with autism 总被引:1,自引:0,他引:1
Sanders SJ Murtha MT Gupta AR Murdoch JD Raubeson MJ Willsey AJ Ercan-Sencicek AG DiLullo NM Parikshak NN Stein JL Walker MF Ober GT Teran NA Song Y El-Fishawy P Murtha RC Choi M Overton JD Bjornson RD Carriero NJ Meyer KA Bilguvar K Mane SM Sestan N Lifton RP Günel M Roeder K Geschwind DH Devlin B State MW 《Nature》2012,485(7397):237-241
Multiple studies have confirmed the contribution of rare de novo copy number variations to the risk for autism spectrum disorders. But whereas de novo single nucleotide variants have been identified in affected individuals, their contribution to risk has yet to be clarified. Specifically, the frequency and distribution of these mutations have not been well characterized in matched unaffected controls, and such data are vital to the interpretation of de novo coding mutations observed in probands. Here we show, using whole-exome sequencing of 928 individuals, including 200 phenotypically discordant sibling pairs, that highly disruptive (nonsense and splice-site) de novo mutations in brain-expressed genes are associated with autism spectrum disorders and carry large effects. On the basis of mutation rates in unaffected individuals, we demonstrate that multiple independent de novo single nucleotide variants in the same gene among unrelated probands reliably identifies risk alleles, providing a clear path forward for gene discovery. Among a total of 279 identified de novo coding mutations, there is a single instance in probands, and none in siblings, in which two independent nonsense variants disrupt the same gene, SCN2A (sodium channel, voltage-gated, type II, α subunit), a result that is highly unlikely by chance. 相似文献
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M Dühren-von Minden R Übelhart D Schneider T Wossning MP Bach M Buchner D Hofmann E Surova M Follo F Köhler H Wardemann K Zirlik H Veelken H Jumaa 《Nature》2012,489(7415):309-312
B-cell antigen receptor (BCR) expression is an important feature of chronic lymphocytic leukaemia (CLL), one of the most prevalent B-cell neoplasias in Western countries. The presence of stereotyped and quasi-identical BCRs in different CLL patients suggests that recognition of specific antigens might drive CLL pathogenesis. Here we show that, in contrast to other B-cell neoplasias, CLL-derived BCRs induce antigen-independent cell-autonomous signalling, which is dependent on the heavy-chain complementarity-determining region (HCDR3) and an internal epitope of the BCR. Indeed, transferring the HCDR3 of a CLL-derived BCR provides autonomous signalling capacity to a non-autonomously active BCR, whereas mutations in the internal epitope abolish this capacity. Because BCR expression was required for the binding of secreted CLL-derived BCRs to target cells, and mutations in the internal epitope reduced this binding, our results indicate a new model for CLL pathogenesis, with cell-autonomous antigen-independent signalling as a crucial pathogenic mechanism. 相似文献
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Dirac points are central to many phenomena in condensed-matter physics, from massless electrons in graphene to the emergence of conducting edge states in topological insulators. At a Dirac point, two energy bands intersect linearly and the electrons behave as relativistic Dirac fermions. In solids, the rigid structure of the material determines the mass and velocity of the electrons, as well as their interactions. A different, highly flexible means of studying condensed-matter phenomena is to create model systems using ultracold atoms trapped in the periodic potential of interfering laser beams. Here we report the creation of Dirac points with adjustable properties in a tunable honeycomb optical lattice. Using momentum-resolved interband transitions, we observe a minimum bandgap inside the Brillouin zone at the positions of the two Dirac points. We exploit the unique tunability of our lattice potential to adjust the effective mass of the Dirac fermions by breaking inversion symmetry. Moreover, changing the lattice anisotropy allows us to change the positions of the Dirac points inside the Brillouin zone. When the anisotropy exceeds a critical limit, the two Dirac points merge and annihilate each other-a situation that has recently attracted considerable theoretical interest but that is extremely challenging to observe in solids. We map out this topological transition in lattice parameter space and find excellent agreement with ab initio calculations. Our results not only pave the way to model materials in which the topology of the band structure is crucial, but also provide an avenue to exploring many-body phases resulting from the interplay of complex lattice geometries with interactions. 相似文献
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