941 resultados para copy number variation


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Current evidence on the long-term evolutionary effect of insertion of sequence elements into gene regions is reviewed, restricted to cases where a sequence derived from a past insertion participates in the regulation of expression of a useful gene. Ten such examples in eukaryotes demonstrate that segments of repetitive DNA or mobile elements have been inserted in the past in gene regions, have been preserved, sometimes modified by selection, and now affect control of transcription of the adjacent gene. Included are only examples in which transcription control was modified by the insert. Several cases in which merely transcription initiation occurred in the insert were set aside. Two of the examples involved the long terminal repeats of mammalian endogenous retroviruses. Another two examples were control of transcription by repeated sequence inserts in sea urchin genomes. There are now six published examples in which Alu sequences were inserted long ago into human gene regions, were modified, and now are central in control/enhancement of transcription. The number of published examples of Alu sequences affecting gene control has grown threefold in the last year and is likely to continue growing. Taken together, all of these examples show that the insertion of sequence elements in the genome has been a significant source of regulatory variation in evolution.

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A human cDNA encoding a protein homologous to the Escherichia coli DNA topoisomerase I subfamily of enzymes has been identified through cloning and sequencing. Expressing the cloned human cDNA in yeast (delta)top1 cells lacking endogenous DNA topoisomerase I yielded an activity in cell extracts that specifically reduces the number of supercoils in a highly negatively supercoiled DNA. On the basis of these results, the human gene containing the cDNA sequence has been denoted TOP3, and the protein it encodes has been denoted DNA topoisomerase III. Screening of a panel of human-rodent somatic hybrids and fluorescence in situ hybridization of cloned TOP3 genomic DNA to metaphase chromosomes indicate that human TOP3 is a single-copy gene located at chromosome 17p11.2-12.

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Retrovirus-mediated gene transfer into hematopoietic cells may provide a means of treating both inherited and acquired diseases involving hematopoietic cells. Implementation of this approach for disorders resulting from mutations affecting the beta-globin gene (e.g., beta-thalassemia and sickle cell anemia), however, has been hampered by the inability to generate recombinant viruses able to efficiently and faithfully transmit the necessary sequences for appropriate gene expression. We have addressed this problem by carefully examining the interactions between retroviral and beta-globin gene sequences which affect vector transmission, stability, and expression. First, we examined the transmission properties of a large number of different recombinant proviral genomes which vary both in the precise nature of vector, beta-globin structural gene, and locus control region (LCR) core sequences incorporated and in the placement and orientation of those sequences. Through this analysis, we identified one specific vector, termed M beta 6L, which carries both the human beta-globin gene and core elements HS2, HS3, and HS4 from the LCR and faithfully transmits recombinant proviral sequences to cells with titers greater than 10(6) per ml. Populations of murine erythroleukemia (MEL) cells transduced by this virus expressed levels of human beta-globin transcript which, on a per gene copy basis, were 78% of the levels detected in an MEL-derived cell line, Hu11, which carries human chromosome 11, the site of the beta-globin locus. Analysis of individual transduced MEL cell clones, however, indicated that, while expression was detected in every clone tested (n = 17), the levels of human beta-globin treatment varied between 4% and 146% of the levels in Hu11. This clonal variation in expression levels suggests that small beta-globin LCR sequences may not provide for as strict chromosomal position-independent expression of beta-globin as previously suspected, at least in the context of retrovirus-mediated gene transfer.

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Copies of two documents, approved 20 Apr. 1730; instructions to Richard Philips state that a number of Protestant Irish and Palatine families have been granted land in Nova Scotia, to be surveyed by David Dunbar; and instructions to Dunbar to survey and lay out land for the families.

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The morphological variability (coiling properties, size and shape) of the planktic foraminifer Contusortuncana contusa (Cushman) in the terminal Cretaceous ocean was examined at eight deep-sea sites and two continental sections from low (16°) to middle (42°) paleolatitudes in both hemispheres. The material used in this study includes samples from the South Atlantic (DSDP Sites 356, 527 and 525A), North Atlantic (Sites 384 and 548A), Indian and Pacific Oceans (DSDP Site 465A and ODP Sites 761C and 762C) and Tethyan Ocean (outcrop sections from El-Kef and Caravaca). On average 45 specimens from two samples per location were analysed, from an interval corresponding approximately to the last 60 kyr of the Cretaceous. No differences in coiling direction (dextral proportions were > 90% in all samples), percentage of kummerform specimens (usually > 50%) and number of chambers in the last whorl (4-5) were observed between the sites. Both test size (expressed as spiral outline area and test volume) and total number of chambers increase significantly towards lower latitudes. Similarly, test conicity, examined by shape coordinate and eigenshape methods, and angularity of the spiral outline show a rather continuous, slight increase towards lower latitudes. Kummerform specimens of C. contusa were slightly larger and more conical than normalforms and possessed substantially more chambers (both totally and in the last whorl). A principal components analysis of the sample means of five variables describing size and shape clearly distinguished high-latitude sites (525A, 527, 548A, 761C and 762C) from low-latitude sites (384, 465A, Caravaca and El-Kef). Specimens from Site 356 are transitional with respect to those two groups. The results indicate: (1) considerable morphological variation in C. contusa during the terminal Cretaceous comparable to that known in many Recent planktic foraminiferal species and (2) a geographical distribution of this variation corresponding to previously suggested biogeographic schemes based on quantitative analysis of planktic foraminiferal assemblages. Despite the differences in sample means, the overall morphology of C. contusa overlaps among the sites studied, supporting the classification of all C. contusa morphotypes as a single species. Similarly, no discrete morphologic groups could be distinguished within any of the samples.

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There is a paucity of information on abundance, densities, and habitat selection of narwhals Monodon monoceros in the offshore pack ice of Baffin Bay, West Greenland, despite the critical importance of winter foraging regions and considerable sea ice declines in the past decades. We conducted a double-platform visual aerial survey over a narwhal wintering ground to obtain pack ice densities and develop the first fully corrected abundance estimate using point conditional mark-recapture distance sampling. Continuous video recording and digital images taken along the trackline allowed for in situ quantification of winter narwhal habitat and for the estimation of fine-scale narwhal habitat selection and habitat-specific sighting probabilities. Abundance at the surface was estimated at 3484 (coefficient of variation [CV] = 0.46) including whales missed by observers. The fully corrected abundance of narwhals was 18 044 (CV = 0.46), or approximately one-quarter of the entire Baffin Bay population. The narwhal wintering ground surveyed (~9500 km**2) had 2.4 to 3.2% open water based on estimates from satellite imagery (NASA Moderate Resolution Imaging Spectroradiometer) and 1565 digital photographic images collected on the trackline. Thus, the ~18 000 narwhals had access to 233 km**2 of open water, resulting in an average density of ~77 narwhals/km**2 open water. Narwhal sighting probability near habitats with <10% or 10 to 50% open water was significantly higher than sighting probability in habitats with >50% open water, suggesting narwhals select optimal foraging areas in dense pack ice regardless of open water availability. This study provides the first quantitative ecological data on densities and habitat selection of narwhals in pack ice foraging regions that are rapidly being altered with climate change.

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"Designed to supplement the series of unit courses for beginners in machine shop practice."--Pref.

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Thesis (Master's)--University of Washington, 2016-06

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Thesis (Master's)--University of Washington, 2016-06

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The polyphagous moth Helicoverpa armigera (Hubner) is one of the world's most important agricultural pests. A number of existing approaches and future designs for management of H. armigera rely on the assumption that moths do not exhibit either genetically and/or non-genetically based variation for host plant utilization. We review recent empirical evidence demonstrating that both these forms of variation influence host plant use in this moth. The significance of this variation in H. armigera in relation to current and future pest management strategies is examined. We provide recommendations on future research needs and directions for sustainable management of H. armigera, under a framework that includes consideration of intra.-specific variation for host use relevant in this and other similar pest species. (C) 2004 Elsevier Ltd. All rights reserved.