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921.
Mutations in HFE2 cause iron overload in chromosome 1q-linked juvenile hemochromatosis 总被引:27,自引:0,他引:27
Papanikolaou G Samuels ME Ludwig EH MacDonald ML Franchini PL Dubé MP Andres L MacFarlane J Sakellaropoulos N Politou M Nemeth E Thompson J Risler JK Zaborowska C Babakaiff R Radomski CC Pape TD Davidas O Christakis J Brissot P Lockitch G Ganz T Hayden MR Goldberg YP 《Nature genetics》2004,36(1):77-82
922.
Evidence for substantial fine-scale variation in recombination rates across the human genome 总被引:22,自引:0,他引:22
Crawford DC Bhangale T Li N Hellenthal G Rieder MJ Nickerson DA Stephens M 《Nature genetics》2004,36(7):700-706
Characterizing fine-scale variation in human recombination rates is important, both to deepen understanding of the recombination process and to aid the design of disease association studies. Current genetic maps show that rates vary on a megabase scale, but studying finer-scale variation using pedigrees is difficult. Sperm-typing experiments have characterized regions where crossovers cluster into 1-2-kb hot spots, but technical difficulties limit the number of studies. An alternative is to use population variation to infer fine-scale characteristics of the recombination process. Several surveys reported 'block-like' patterns of diversity, which may reflect fine-scale recombination rate variation, but limitations of available methods made this impossible to assess. Here, we applied a new statistical method, which overcomes these limitations, to infer patterns of fine-scale recombination rate variation in 74 genes. We found extensive rate variation both within and among genes. In particular, recombination hot spots are a common feature of the human genome: 47% (35 of 74) of genes showed substantive evidence for a hot spot, and many more showed evidence for some rate variation. No primary sequence characteristics are consistently associated with precise hot-spot location, although G+C content and nucleotide diversity are correlated with local recombination rate. 相似文献
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Rest A Suntzeff NB Olsen K Prieto JL Smith RC Welch DL Becker A Bergmann M Clocchiatti A Cook K Garg A Huber M Miknaitis G Minniti D Nikolaev S Stubbs C 《Nature》2005,438(7071):1132-1134
The light from historical supernovae could in principle still be visible as scattered-light echoes centuries after the explosion. The detection of light echoes could allow us to pinpoint the supernova event both in position and age and, most importantly, permit the acquisition of spectra to determine the 'type' of the supernova centuries after the direct light from the explosion first reached Earth. Although echoes have been discovered around some nearby extragalactic supernovae, targeted searches have not found any echoes in the regions of historical Galactic supernovae. Here we report three faint variable-surface-brightness complexes with high apparent proper motions pointing back to three of the six smallest (and probably youngest) previously catalogued supernova remnants in the Large Magellanic Cloud, which are believed to have been thermonuclear (type Ia) supernovae. Using the distance and apparent proper motions of these echo arcs, we estimate ages of 610 and 410 years for two of them. 相似文献
927.
Integrative genomic analyses identify MITF as a lineage survival oncogene amplified in malignant melanoma 总被引:2,自引:0,他引:2
Garraway LA Widlund HR Rubin MA Getz G Berger AJ Ramaswamy S Beroukhim R Milner DA Granter SR Du J Lee C Wagner SN Li C Golub TR Rimm DL Meyerson ML Fisher DE Sellers WR 《Nature》2005,436(7047):117-122
928.
Tanaka K Mukae N Dewar H van Breugel M James EK Prescott AR Antony C Tanaka TU 《Nature》2005,434(7036):987-994
For high-fidelity chromosome segregation, kinetochores must be properly captured by spindle microtubules, but the mechanisms underlying initial kinetochore capture have remained elusive. Here we visualized individual kinetochore-microtubule interactions in Saccharomyces cerevisiae by regulating the activity of a centromere. Kinetochores are captured by the side of microtubules extending from spindle poles, and are subsequently transported poleward along them. The microtubule extension from spindle poles requires microtubule plus-end-tracking proteins and the Ran GDP/GTP exchange factor. Distinct kinetochore components are used for kinetochore capture by microtubules and for ensuring subsequent sister kinetochore bi-orientation on the spindle. Kar3, a kinesin-14 family member, is one of the regulators that promote transport of captured kinetochores along microtubules. During such transport, kinetochores ensure that they do not slide off their associated microtubules by facilitating the conversion of microtubule dynamics from shrinkage to growth at the plus ends. This conversion is promoted by the transport of Stu2 from the captured kinetochores to the plus ends of microtubules. 相似文献
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An important component of the New England Electric System Companies' (the 'System') total electricity sales is attributable to commercial customers. Commercial growth has recently been strong; moreover the System's peak demand is highly sensitive to commercial load. In a typical month this class represents 33 per cent of total System sales. Accurate short-run forecasts of total kWh sales are important for rate making, budgeting, fuel cause proceedings, and corporate planning. In this study we use a variety of econometric and time-series techniques to produce short-run forecasts of commercial sales for two geographical areas served by two separate retail companies;. 相似文献