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861.
Lohmueller KE Indap AR Schmidt S Boyko AR Hernandez RD Hubisz MJ Sninsky JJ White TJ Sunyaev SR Nielsen R Clark AG Bustamante CD 《Nature》2008,451(7181):994-997
Quantifying the number of deleterious mutations per diploid human genome is of crucial concern to both evolutionary and medical geneticists. Here we combine genome-wide polymorphism data from PCR-based exon resequencing, comparative genomic data across mammalian species, and protein structure predictions to estimate the number of functionally consequential single-nucleotide polymorphisms (SNPs) carried by each of 15 African American (AA) and 20 European American (EA) individuals. We find that AAs show significantly higher levels of nucleotide heterozygosity than do EAs for all categories of functional SNPs considered, including synonymous, non-synonymous, predicted 'benign', predicted 'possibly damaging' and predicted 'probably damaging' SNPs. This result is wholly consistent with previous work showing higher overall levels of nucleotide variation in African populations than in Europeans. EA individuals, in contrast, have significantly more genotypes homozygous for the derived allele at synonymous and non-synonymous SNPs and for the damaging allele at 'probably damaging' SNPs than AAs do. For SNPs segregating only in one population or the other, the proportion of non-synonymous SNPs is significantly higher in the EA sample (55.4%) than in the AA sample (47.0%; P < 2.3 x 10(-37)). We observe a similar proportional excess of SNPs that are inferred to be 'probably damaging' (15.9% in EA; 12.1% in AA; P < 3.3 x 10(-11)). Using extensive simulations, we show that this excess proportion of segregating damaging alleles in Europeans is probably a consequence of a bottleneck that Europeans experienced at about the time of the migration out of Africa. 相似文献
862.
Weakening of tropical Pacific atmospheric circulation due to anthropogenic forcing 总被引:13,自引:0,他引:13
Since the mid-nineteenth century the Earth's surface has warmed, and models indicate that human activities have caused part of the warming by altering the radiative balance of the atmosphere. Simple theories suggest that global warming will reduce the strength of the mean tropical atmospheric circulation. An important aspect of this tropical circulation is a large-scale zonal (east-west) overturning of air across the equatorial Pacific Ocean--driven by convection to the west and subsidence to the east--known as the Walker circulation. Here we explore changes in tropical Pacific circulation since the mid-nineteenth century using observations and a suite of global climate model experiments. Observed Indo-Pacific sea level pressure reveals a weakening of the Walker circulation. The size of this trend is consistent with theoretical predictions, is accurately reproduced by climate model simulations and, within the climate models, is largely due to anthropogenic forcing. The climate model indicates that the weakened surface winds have altered the thermal structure and circulation of the tropical Pacific Ocean. These results support model projections of further weakening of tropical atmospheric circulation during the twenty-first century. 相似文献
863.
Allee effects and pulsed invasion by the gypsy moth 总被引:1,自引:0,他引:1
Biological invasions pose considerable threats to the world's ecosystems and cause substantial economic losses. A prime example is the invasion of the gypsy moth in the United States, for which more than $194 million was spent on management and monitoring between 1985 and 2004 alone. The spread of the gypsy moth across eastern North America is, perhaps, the most thoroughly studied biological invasion in the world, providing a unique opportunity to explore spatiotemporal variability in rates of spread. Here we describe evidence for periodic pulsed invasions, defined as regularly punctuated range expansions interspersed among periods of range stasis. We use a theoretical model with parameter values estimated from long-term monitoring data to show how an interaction between strong Allee effects (negative population growth at low densities) and stratified diffusion (most individuals disperse locally, but a few seed new colonies by long-range movement) can explain the invasion pulses. Our results indicate that suppressing population peaks along range borders might greatly slow invasion. 相似文献
864.
Rapid discharge connects Antarctic subglacial lakes 总被引:5,自引:0,他引:5
The existence of many subglacial lakes provides clear evidence for the widespread presence of water beneath the East Antarctic ice sheet, but the hydrology beneath this ice mass is poorly understood. Such knowledge is critical to understanding ice flow, basal water transfer to the ice margin, glacial landform development and subglacial lake habitats. Here we present ice-sheet surface elevation changes in central East Antarctica that we interpret to represent rapid discharge from a subglacial lake. Our observations indicate that during a period of 16 months, 1.8 km3 of water was transferred over 290 km to at least two other subglacial lakes. While viscous deformation of the ice roof above may moderate discharge, the intrinsic instability of such a system suggests that discharge events are a common mode of basal drainage. If large lakes, such as Lake Vostok or Lake Concordia, are pressurizing, it is possible that substantial discharges could reach the coast. Our observations conflict with expectations that subglacial lakes have long residence times and slow circulations, and we suggest that entire subglacial drainage basins may be flushed periodically. The rapid transfer of water between lakes would result in large-scale solute and microbe relocation, and drainage system contamination from in situ exploration is, therefore, a distinct risk. 相似文献
865.
de Oliveira T Pybus OG Rambaut A Salemi M Cassol S Ciccozzi M Rezza G Gattinara GC D'Arrigo R Amicosante M Perrin L Colizzi V Perno CF;Benghazi Study Group 《Nature》2006,444(7121):836-837
In 1998, outbreaks of human immunodeficiency virus type 1 (HIV-1) and hepatitis C virus (HCV) infection were reported in children attending Al-Fateh Hospital in Benghazi, Libya. Here we use molecular phylogenetic techniques to analyse new virus sequences from these outbreaks. We find that the HIV-1 and HCV strains were already circulating and prevalent in this hospital and its environs before the arrival in March 1998 of the foreign medical staff (five Bulgarian nurses and a Palestinian doctor) who stand accused of transmitting the HIV strain to the children. 相似文献
866.
Although epidermal growth factor receptor (EGFR; also called ErbB1) and its relatives initiate one of the most well-studied signalling networks, there is not yet a genome-wide view of even the earliest step in this pathway: recruitment of proteins to the activated receptors. Here we use protein microarrays comprising virtually every Src homology 2 (SH2) and phosphotyrosine binding (PTB) domain encoded in the human genome to measure the equilibrium dissociation constant of each domain for 61 peptides representing physiological sites of tyrosine phosphorylation on the four ErbB receptors. This involved 77,592 independent biochemical measurements and provided a quantitative protein interaction network that reveals many new interactions, including ones that fall outside of our current view of domain selectivity. By slicing through the network at different affinity thresholds, we found surprising differences between the receptors. Most notably, EGFR and ErbB2 become markedly more promiscuous as the threshold is lowered, whereas ErbB3 does not. Because EGFR and ErbB2 are overexpressed in many human cancers, our results suggest that the extent to which promiscuity changes with protein concentration may contribute to the oncogenic potential of receptor tyrosine kinases, and perhaps other signalling proteins as well. 相似文献
867.
The warming of Arctic climate and decreases in sea ice thickness and extent observed over recent decades are believed to result from increased direct greenhouse gas forcing, changes in atmospheric dynamics having anthropogenic origin, and important positive reinforcements including ice-albedo and cloud-radiation feedbacks. The importance of cloud-radiation interactions is being investigated through advanced instrumentation deployed in the high Arctic since 1997 (refs 7, 8). These studies have established that clouds, via the dominance of longwave radiation, exert a net warming on the Arctic climate system throughout most of the year, except briefly during the summer. The Arctic region also experiences significant periodic influxes of anthropogenic aerosols, which originate from the industrial regions in lower latitudes. Here we use multisensor radiometric data to show that enhanced aerosol concentrations alter the microphysical properties of Arctic clouds, in a process known as the 'first indirect' effect. Under frequently occurring cloud types we find that this leads to an increase of an average 3.4 watts per square metre in the surface longwave fluxes. This is comparable to a warming effect from established greenhouse gases and implies that the observed longwave enhancement is climatologically significant. 相似文献
868.
Taylor TD Noguchi H Totoki Y Toyoda A Kuroki Y Dewar K Lloyd C Itoh T Takeda T Kim DW She X Barlow KF Bloom T Bruford E Chang JL Cuomo CA Eichler E FitzGerald MG Jaffe DB LaButti K Nicol R Park HS Seaman C Sougnez C Yang X Zimmer AR Zody MC Birren BW Nusbaum C Fujiyama A Hattori M Rogers J Lander ES Sakaki Y 《Nature》2006,440(7083):497-500
Chromosome 11, although average in size, is one of the most gene- and disease-rich chromosomes in the human genome. Initial gene annotation indicates an average gene density of 11.6 genes per megabase, including 1,524 protein-coding genes, some of which were identified using novel methods, and 765 pseudogenes. One-quarter of the protein-coding genes shows overlap with other genes. Of the 856 olfactory receptor genes in the human genome, more than 40% are located in 28 single- and multi-gene clusters along this chromosome. Out of the 171 disorders currently attributed to the chromosome, 86 remain for which the underlying molecular basis is not yet known, including several mendelian traits, cancer and susceptibility loci. The high-quality data presented here--nearly 134.5 million base pairs representing 99.8% coverage of the euchromatic sequence--provide scientists with a solid foundation for understanding the genetic basis of these disorders and other biological phenomena. 相似文献
869.
Scherer SE Muzny DM Buhay CJ Chen R Cree A Ding Y Dugan-Rocha S Gill R Gunaratne P Harris RA Hawes AC Hernandez J Hodgson AV Hume J Jackson A Khan ZM Kovar-Smith C Lewis LR Lozado RJ Metzker ML Milosavljevic A Miner GR Montgomery KT Morgan MB Nazareth LV Scott G Sodergren E Song XZ Steffen D Lovering RC Wheeler DA Worley KC Yuan Y Zhang Z Adams CQ Ansari-Lari MA Ayele M Brown MJ Chen G Chen Z Clerc-Blankenburg KP Davis C Delgado O Dinh HH Draper H Gonzalez-Garay ML Havlak P Jackson LR Jacob LS 《Nature》2006,440(7082):346-351
Human chromosome 12 contains more than 1,400 coding genes and 487 loci that have been directly implicated in human disease. The q arm of chromosome 12 contains one of the largest blocks of linkage disequilibrium found in the human genome. Here we present the finished sequence of human chromosome 12, which has been finished to high quality and spans approximately 132 megabases, representing approximately 4.5% of the human genome. Alignment of the human chromosome 12 sequence across vertebrates reveals the origin of individual segments in chicken, and a unique history of rearrangement through rodent and primate lineages. The rate of base substitutions in recent evolutionary history shows an overall slowing in hominids compared with primates and rodents. 相似文献
870.
James TY Kauff F Schoch CL Matheny PB Hofstetter V Cox CJ Celio G Gueidan C Fraker E Miadlikowska J Lumbsch HT Rauhut A Reeb V Arnold AE Amtoft A Stajich JE Hosaka K Sung GH Johnson D O'Rourke B Crockett M Binder M Curtis JM Slot JC Wang Z Wilson AW Schüssler A Longcore JE O'Donnell K Mozley-Standridge S Porter D Letcher PM Powell MJ Taylor JW White MM Griffith GW Davies DR Humber RA Morton JB Sugiyama J Rossman AY Rogers JD Pfister DH Hewitt D Hansen K Hambleton S Shoemaker RA Kohlmeyer J 《Nature》2006,443(7113):818-822
The ancestors of fungi are believed to be simple aquatic forms with flagellated spores, similar to members of the extant phylum Chytridiomycota (chytrids). Current classifications assume that chytrids form an early-diverging clade within the kingdom Fungi and imply a single loss of the spore flagellum, leading to the diversification of terrestrial fungi. Here we develop phylogenetic hypotheses for Fungi using data from six gene regions and nearly 200 species. Our results indicate that there may have been at least four independent losses of the flagellum in the kingdom Fungi. These losses of swimming spores coincided with the evolution of new mechanisms of spore dispersal, such as aerial dispersal in mycelial groups and polar tube eversion in the microsporidia (unicellular forms that lack mitochondria). The enigmatic microsporidia seem to be derived from an endoparasitic chytrid ancestor similar to Rozella allomycis, on the earliest diverging branch of the fungal phylogenetic tree. 相似文献