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41.
Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer 总被引:26,自引:0,他引:26
Tomlinson IP Alam NA Rowan AJ Barclay E Jaeger EE Kelsell D Leigh I Gorman P Lamlum H Rahman S Roylance RR Olpin S Bevan S Barker K Hearle N Houlston RS Kiuru M Lehtonen R Karhu A Vilkki S Laiho P Eklund C Vierimaa O Aittomäki K Hietala M Sistonen P Paetau A Salovaara R Herva R Launonen V Aaltonen LA;Multiple Leiomyoma Consortium 《Nature genetics》2002,30(4):406-410
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Divergence times estimated from molecular data often considerably predate the earliest known fossil representatives of the groups studied. For the order Primates, molecular data calibrated with various external fossil dates uniformly suggest a mid-Cretaceous divergence from other placental mammals, some 90 million years (Myr) ago, whereas the oldest known fossil primates are from the basal Eocene epoch (54-55 Myr ago). The common ancestor of primates should be earlier than the oldest known fossils, but adequate quantification is needed to interpret possible discrepancies between molecular and palaeontological estimates. Here we present a new statistical method, based on an estimate of species preservation derived from a model of the diversification pattern, that suggests a Cretaceous last common ancestor of primates, approximately 81.5 Myr ago, close to the initial divergence time inferred from molecular data. It also suggests that no more than 7% of all primate species that have ever existed are known from fossils. The approach unites all the available palaeontological methods of timing evolutionary events: the fossil record, extant species and clade diversification models. 相似文献
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Hypotrichosis simplex of the scalp is associated with nonsense mutations in CDSN encoding corneodesmosin 总被引:6,自引:0,他引:6
Levy-Nissenbaum E Betz RC Frydman M Simon M Lahat H Bakhan T Goldman B Bygum A Pierick M Hillmer AM Jonca N Toribio J Kruse R Dewald G Cichon S Kubisch C Guerrin M Serre G Nöthen MM Pras E 《Nature genetics》2003,34(2):151-153
We have identified nonsense mutations in the gene CDSN (encoding corneodesmosin) in three families suffering from hypotrichosis simplex of the scalp (HSS; OMIM 146520). CDSN, a glycoprotein expressed in the epidermis and inner root sheath (IRS) of hair follicles, is a keratinocyte adhesion molecule. Truncated CDSN aggregates were detected in the superficial dermis and at the periphery of hair follicles. Our findings suggest that CDSN is important in normal scalp hair physiology. 相似文献
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Transposition of structural genes to an expression sequence on a linear plasmid causes antigenic variation in the bacterium Borrelia hermsii 总被引:58,自引:0,他引:58
In Borrelia hermsii, a spirochaete that causes relapsing fever, the switch between expression of two frequent variable major protein (VMP) types (7 and 21) is associated with a DNA rearrangement. Both cell types 7 and 21 contain untranscribed 7 and 21 VMP genes on linear plasmids. The serotype 7 cells contain an additional copy of the 7 VMP gene fused to an expression sequence on another linear plasmid. Switching to the 21 serotype involves removal of the transcribed 7 VMP gene and fusion of a copy of the 21 VMP gene to this same expression sequence. Thus recombination between linear plasmids can activate different VMP genes. 相似文献
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Simon A. Lei 《西北部美国博物学家》2011,63(3)
Discovery of distinct mid-elevational bands of blackbrush ( Coleogyne ramosissima Torr.) shrublands on desert mountain slopes in the Mojave Desert caused an investigation of the relationships between environmental factors and Coleogyne distribution. Environmental factors were quantitatively examined to determine which were significant predictors of Coleogyne density at upper-elevational limits (ecotones) in the Spring Mountains of southern Nevada. Path analysis revealed significant, direct causal effects of air temperature, soil moisture, soil depth, and percent litter cover on the distribution of Coleogyne . Specifically, air temperature was a significant positive predictor, while soil moisture, soil depth, and percent litter cover were significant negative predictors of Coleogyne density, with the effects of other environmental variables parceled out. Path analysis also indicated that indirect effects of soil pH, bulk density, compaction, percent pore space, organic matter, soil temperature, salinity, cryptogam, and percent bare soil and rock cover on Coleogyne density were substantially more potent than their direct casual effects. Environmental attributes associated with elevational changes correlate with and may determine the density of Coleogyne shrubs at upper ecotones in southern Nevada. 相似文献
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Woody plant community composition was analyzed throughout the range of Coleogyne ramosissima in the Spring and Sheep Mountain ranges of southern Nevada. The lower Coleogyne elevational boundary was analyzed in detail in Lucky Strike Canyon, on the eastern edge of the Spring Mountains. TWINSPAN (2-way indicator species analysis) identified 4 primary species and stand groups from the 2 mountain ranges (extensive survey). Analysis of DECORANA (detrended correspondence analysis) results indicated that elevation and soil depth were the environmental factors most significantly associated with distribution of species and stand groups in the extensive survey. Elevation was the only significant physical factor associated with distribution of species and stand groups in the intensive survey. Five vegetation zones form the 2 mountain ranges were identified based on their dominant species in 15 extensive transects. Coleogyne were subdivided into pure stands and upper and lower ecotones for further investigation of species distribution and environmental factors. Selected environmental factors appear to play an important role in structuring the Mojave Desert vegetation zones in southern Nevada. 相似文献
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