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21.
Large-scale copy number polymorphism in the human genome 总被引:1,自引:0,他引:1
Sebat J Lakshmi B Troge J Alexander J Young J Lundin P Månér S Massa H Walker M Chi M Navin N Lucito R Healy J Hicks J Ye K Reiner A Gilliam TC Trask B Patterson N Zetterberg A Wigler M 《Science (New York, N.Y.)》2004,305(5683):525-528
The extent to which large duplications and deletions contribute to human genetic variation and diversity is unknown. Here, we show that large-scale copy number polymorphisms (CNPs) (about 100 kilobases and greater) contribute substantially to genomic variation between normal humans. Representational oligonucleotide microarray analysis of 20 individuals revealed a total of 221 copy number differences representing 76 unique CNPs. On average, individuals differed by 11 CNPs, and the average length of a CNP interval was 465 kilobases. We observed copy number variation of 70 different genes within CNP intervals, including genes involved in neurological function, regulation of cell growth, regulation of metabolism, and several genes known to be associated with disease. 相似文献
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Jill A. Opsahl Sonja Ljostveit Therese Solstad Kristin Risa Peter Roepstorff Kari E. Fladmark 《Marine drugs》2013,11(6):1763-1782
Exposure of cells to the diarrhetic shellfish poison, okadaic acid, leads to a dramatic reorganization of cytoskeletal architecture and loss of cell-cell contact. When cells are exposed to high concentrations of okadaic acid (100–500 nM), the morphological rearrangement is followed by apoptotic cell death. Okadaic acid inhibits the broad acting Ser/Thr protein phosphatases 1 and 2A, which results in hyperphosphorylation of a large number of proteins. Some of these hyperphosphorylated proteins are most likely key players in the reorganization of the cell morphology induced by okadaic acid. We wanted to identify these phosphoproteins and searched for them in the cellular lipid rafts, which have been found to contain proteins that regulate cytoskeletal dynamics and cell adhesion. By using stable isotope labeling by amino acids in cell culture cells treated with okadaic acid (400 nM) could be combined with control cells before the isolation of lipid rafts. Protein phosphorylation events and translocations induced by okadaic acid were identified by mass spectrometry. Okadaic acid was shown to regulate the phosphorylation status and location of proteins associated with the actin cytoskeleton, microtubules and cell adhesion structures. A large number of these okadaic acid-regulated proteins have previously also been shown to be similarly regulated prior to cell proliferation and migration. Our results suggest that okadaic acid activates general cell signaling pathways that induce breakdown of the cortical actin cytoskeleton and cell detachment. 相似文献
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An exotic fresh-water gastropod recently discovered in South Africa is identified as Aplexa (Stenophysa) marmorata (Physidae) and is considered conspecific with a population known from West Africa since at least 1911 and a single record from Mozambique dating from 1886. It is speculated that these introductions could have occurred via the Portuguese slave trade during the 16th and 17th centuries. A key to A. marmorata, another introduced physid Physa acuta and the indigenous, sinistral genus Bulinus is presented. 相似文献
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This article examines international migration in the Pacific and argues that there should be still greater opportunities for the people of Pacific countries to migrate between their home states and the developed states of the Pacific Rim. The case for borders that are more permeable to human migration is based in part on the common Pacific predicament of poor resource endowments, rapidly growing populations, depletion and degradation of existing resources, and threats posed by anthropogenic climate change. Coupled with this is a history of colonisation that has left some Pacific peoples with liberal access to economic opportunities in developed states by virtue of their citizenship or preferential visa status, while others have no such opportunities. Both New Zealand and the United States have been reasonably generous in facilitating migration from Polynesia and Micronesia. It is Australia that stands out as the Pacific neighbour with the greatest capacity to develop new migration streams. The seasonal worker scheme announced by the Australian Government in August 2008 takes a cautious but valuable step along this path, yet there is scope for further expanding Pacific access by broadening the geographical, temporal and material scope of existing migration arrangements. 相似文献
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Pilar Muschietti-Piana Therese M. McBeath Ann M. McNeill Pablo A. Cipriotti Vadakattu V. S. R. Gupta 《植物养料与土壤学杂志》2020,183(3):355-366
Soil nitrogen (N) supply for wheat N uptake can be manipulated through legume and fertilizer N inputs to achieve yield potential in low‐rainfall sandy soil environments. Field experiments over 2 years (2015–2016) were conducted at 2 different sites in a low‐rainfall sandy soil to determine the soil N supply capacity relative to wheat N uptake at key growth stages, after a combination of crop residue (removed, wheat or lupin) and fertilizer N (nil, low or high N) treatments were manipulated to improve wheat yield. We measured the temporal patterns of the soil profile mineral N and PAW to 100 cm depth, wheat aerial biomass and N uptake in both years. In 2016 we also measured the disease incidence as a key environmental variable. There was 35 kg ha?1 more soil mineral N to 100 cm depth following lupin than wheat residues at the end of the fallow on average in both years. In a below average rainfall season, wheat biomass produced on lupin residues was responsive to N input with soil profile mineral N depleted by increased crop N uptake early in the season. In an above average rainfall season, a higher soil mineral N supply increased actual and potential grain yield, total biomass, N uptake, harvest index and water use efficiency of wheat, regardless of the source of N. Our study showed that the combination of lupin residues with high N rate increased soil profile mineral N at early growth stages, providing a greater soil N supply at the time of high wheat N demand, and the inclusion of a legume in the rotation is critical for improving the N supply to wheat, with added disease break benefits in a low‐rainfall sandy soil environment. 相似文献
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Inhalt Blutseren von 2 814 Bullen aus 60 französischen KB-Zentralen und von 806 Bullen aus Quarantäne- und Jungbullenprüfstationen wurden, im Laufe des Jahres 1972, auf Vorhandensein von neutralisierenden Antikörpern gegen Rhinotracheitisund Bläschenausschlag-Virus untersucht. I m Durchschnitt, erwiesen sick 17,3% der Bullen aus den KB-Zentralen als Antikörperträger. Die Schwankungsbreite war dabei: 0% Bullen in 28% der Zentralen bis über 50% in 10% der Zentralen, mit einem Höhepunkt von 82%. Der Prozentsatz der Reagenten wächst mit dem Alter der Tiere. Auch Herkunft der Tiere and Umfang der eventuellen Virusausscheidung in einzelnen Betrieben scheinen im Zusammenhang mit dem Anteil der Antikörper zu stehen. Bei den Tieren aus Quarantine-Stationen beträgt dieser Anteil nur noch 1,7% und bleibt ganz aus bei Rindern aus Jungbullenprüfstationen. Der in dieser Untersuchung erörterte durchschnittliche Serumneutralisationstiter beträgt 63. Die bei dieser Arbeit erhobenen Daten sollten die Ausarbeitung von empfehlenswerten Schutzmaβnahmen gegen die Verbreitung der Seuche erlauben. Contents (Studies on the presence of neutralising antibodies to infectious pustular vaginitis and rhinotracheitis virus (IBR-IPV virus) in the serum of bulls used for artificial insemination) In the course of the year 1972, sera of 2 814 bulls maintained in 60 French A.I. Centres, and of 806 bulls staying in 15 Quarantine or Selection Stations, were examined for the presence of antibodies neutralizing the IBR-IPV virus. The percentage of antibody carriers averaged 17,3% of the bulls present in the different A.I. stations, the range extending from 0 in 28% of the stations to over 50% (maximum : 82%) in 10% of the stations. The number of antibody carriers increases on aging. It seems to depend on the place the animals are coming from and on the level of the viral excretion existing in the A.I. station concerned. The percentage falls to 1,7 in the Quarantine Stations and reduces to zero in the Selection Stations. The mean neutralizing titer was found to be equal to 63. The data recorded in this survey must allow to work out the relevant protecting measures. 相似文献