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971.
972.
Girirajan S Brkanac Z Coe BP Baker C Vives L Vu TH Shafer N Bernier R Ferrero GB Silengo M Warren ST Moreno CS Fichera M Romano C Raskind WH Eichler EE 《PLoS genetics》2011,7(11):e1002334
While numerous studies have implicated copy number variants (CNVs) in a range of neurological phenotypes, the impact relative to disease severity has been difficult to ascertain due to small sample sizes, lack of phenotypic details, and heterogeneity in platforms used for discovery. Using a customized microarray enriched for genomic hotspots, we assayed for large CNVs among 1,227 individuals with various neurological deficits including dyslexia (376), sporadic autism (350), and intellectual disability (ID) (501), as well as 337 controls. We show that the frequency of large CNVs (>1 Mbp) is significantly greater for ID-associated phenotypes compared to autism (p = 9.58 × 10(-11), odds ratio = 4.59), dyslexia (p = 3.81 × 10(-18), odds ratio = 14.45), or controls (p = 2.75 × 10(-17), odds ratio = 13.71). There is a striking difference in the frequency of rare CNVs (>50 kbp) in autism (10%, p = 2.4 × 10(-6), odds ratio = 6) or ID (16%, p = 3.55 × 10(-12), odds ratio = 10) compared to dyslexia (2%) with essentially no difference in large CNV burden among dyslexia patients compared to controls. Rare CNVs were more likely to arise de novo (64%) in ID when compared to autism (40%) or dyslexia (0%). We observed a significantly increased large CNV burden in individuals with ID and multiple congenital anomalies (MCA) compared to ID alone (p = 0.001, odds ratio = 2.54). Our data suggest that large CNV burden positively correlates with the severity of childhood disability: ID with MCA being most severely affected and dyslexics being indistinguishable from controls. When autism without ID was considered separately, the increase in CNV burden was modest compared to controls (p = 0.07, odds ratio = 2.33). 相似文献
973.
Cells respond to genotoxic insults by triggering a DNA damage checkpoint surveillance mechanism and by activating repair pathways. Recent findings indicate that the two processes are more related than originally thought. Here we discuss the mechanisms involved in responding to UV-induced lesions in different phases of the cell cycle and summarize the most recent data in a model where Nucleotide Excision Repair (NER) and exonucleolytic activities act in sequence leading to checkpoint activation in non replicating cells. The critical trigger is likely represented by problematic intermediates that cannot be completely or efficiently repaired by NER. In S phase cells, on the other hand, the replicative polymerases, blocked by bulky UV lesions, re-initiate DNA synthesis downstream of the lesions, leaving behind a ssDNA tract. If these gaps are not rapidly refilled, checkpoint kinases will be activated. 相似文献
974.
975.
The National Aeronautics and Space Administration (NASA) Astrobiology Institute (NAI) conducted two "Workshops Without Walls" during 2010 that enabled global scientific exchange--with no travel required. The second of these was on the topic "Molecular Paleontology and Resurrection: Rewinding the Tape of Life." Scientists from diverse disciplines and locations around the world were joined through an integrated suite of collaborative technologies to exchange information on the latest developments in this area of origin of life research. Through social media outlets and popular science blogs, participation in the workshop was broadened to include educators, science writers, and members of the general public. In total, over 560 people from 31 US states and 30 other nations were registered. Among the scientific disciplines represented were geochemistry, biochemistry, molecular biology and evolution, and microbial ecology. We present this workshop as a case study in how interdisciplinary collaborative research may be fostered, with substantial public engagement, without sustaining the deleterious environmental and economic impacts of travel. 相似文献
976.
977.
978.
Paulo Corti Aaron B. A. Shafer David W. Coltman Marco Festa-Bianchet 《Conservation Genetics》2011,12(1):119-128
Small populations in fragmented habitats can lose genetic variation through drift and inbreeding. The huemul (Hippocamelus bisulcus) is an endangered deer endemic to the southern Andes of Chile and Argentina. Huemul numbers have declined by 99% and its
distribution by 50% since European settlement. The total population is estimated at less than 2,000 individuals and is highly
fragmented. At one isolated population in Chilean Patagonia we sampled 56 individuals between 2005 and 2007 and genotyped
them at 14 microsatellite loci. Despite low genetic variability (average 2.071 alleles/locus and average H
O of 0.341), a low inbreeding coefficient (F
IS) of 0.009 suggests nearly random mating. Population genetic bottleneck tests suggest both historical and contemporary reductions
in population size. Simulations indicated that the population must be maintained at 75% of the current size of 120 individuals
to maintain 90% of its current genetic diversity over the next 100 years. Potential management strategies to maintain genetic
variability and limit future inbreeding include the conservation and establishment of habitat corridors to facilitate gene
flow and the enlargement of protected areas to increase effective population size. 相似文献
979.
In the course of recent efforts to identify new potential antiproliferative active principles, Salvia leriifolia extracts and isolated constituents were evaluated for their cytotoxic activity against a panel of human cancer cell lines, including renal adenocarcinoma (ACHN), amelanotic melanoma (C32), colorectal adenocarcinoma (Caco‐2), lung large cell carcinoma (COR‐L23), malignant melanoma (A375), lung carcinoma (A549), and hepatocellular carcinoma (Huh‐7D12) cells. The hexane and CH2Cl2 extracts showed the strongest cytotoxic activity against the C32 cell line with IC50 values of 11.2 and 13.6 μg/ml, respectively, and the AcOEt extract was the most active extract against the COR‐L23 cell line (IC50 of 20.9 μg/ml). Buchariol, a sesquiterpene obtained by biofractionation of the CH2Cl2 extract, exhibited a higher activity than the positive control vinblastine against the C32 and A549 cell lines (IC50 values of 2.1 and 12.6 μM , resp.). Interesting results were also obtained for naringenin, a flavonoid isolated from the AcOEt extract, which exhibited a strong cytotoxic activity against the C32, LNCaP, and COR‐L23 cell lines (IC50 values of 2.2, 7.7, and 33.4 μM , resp.), compared to vinblastine (IC50 values of 3.3, 32.2, 50.0 μM , resp.). None of the tested compounds affected the proliferation of skin fibroblasts (142BR), suggesting a selective activity against tumor cells. 相似文献
980.
Scandura Massimo Iacolina Laura Capitani Claudia Gazzola Andrea Mattioli Luca Apollonio Marco 《European Journal of Wildlife Research》2011,57(4):949-958
We investigated local gene flow in a high-density wolf (Canis lupus) population of the Italian Apennines, where no effective barrier to wolf dispersal was present. From 1998 to 2004 we examined
wolf carcasses and non-invasively collected samples, focusing on three mountain districts, separated by two valleys, where
wolf packs showed high spatial stability. Using nine autosomal microsatellites we successfully genotyped 177 samples, achieving
the identification of 74 wolves. Genetic relatedness steeply decreased with increasing distance between sampling areas, thus
suggesting that short-distance interpack migration is infrequent in this population. In addition, no individual from a central
pack under intensive monitoring was sampled in the range of the surrounding packs over a 4-year period. The limited short-distance
gene flow resulted in a cryptic genetic structure, which was revealed by Bayesian analysis. A different genetic cluster was
found in each of the three mountain areas, and a small proportion of first-generation immigrants was detected. Overall, the
present study suggests that local genetic differentiation in Italian wolves might arise from high spatial stability of packs
and can be favoured by a combination of long-range dispersal, the attitude to mate between unrelated individuals and a high
young mortality rate. 相似文献