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Valle L Serena-Acedo T Liyanarachchi S Hampel H Comeras I Li Z Zeng Q Zhang HT Pennison MJ Sadim M Pasche B Tanner SM de la Chapelle A 《Science (New York, N.Y.)》2008,321(5894):1361-1365
Much of the genetic predisposition to colorectal cancer (CRC) in humans is unexplained. Studying a Caucasian-dominated population in the United States, we showed that germline allele-specific expression (ASE) of the gene encoding transforming growth factor-beta (TGF-beta) type I receptor, TGFBR1, is a quantitative trait that occurs in 10 to 20% of CRC patients and 1 to 3% of controls. ASE results in reduced expression of the gene, is dominantly inherited, segregates in families, and occurs in sporadic CRC cases. Although subtle, the reduction in constitutive TGFBR1 expression alters SMAD-mediated TGF-beta signaling. Two major TGFBR1 haplotypes are predominant among ASE cases, which suggests ancestral mutations, but causative germline changes have not been identified. Conservative estimates suggest that ASE confers a substantially increased risk of CRC (odds ratio, 8.7; 95% confidence interval, 2.6 to 29.1), but these estimates require confirmation and will probably show ethnic differences. 相似文献
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He H Liyanarachchi S Akagi K Nagy R Li J Dietrich RC Li W Sebastian N Wen B Xin B Singh J Yan P Alder H Haan E Wieczorek D Albrecht B Puffenberger E Wang H Westman JA Padgett RA Symer DE de la Chapelle A 《Science (New York, N.Y.)》2011,332(6026):238-240
Small nuclear RNAs (snRNAs) are essential factors in messenger RNA splicing. By means of homozygosity mapping and deep sequencing, we show that a gene encoding U4atac snRNA, a component of the minor U12-dependent spliceosome, is mutated in individuals with microcephalic osteodysplastic primordial dwarfism type I (MOPD I), a severe developmental disorder characterized by extreme intrauterine growth retardation and multiple organ abnormalities. Functional assays showed that mutations (30G>A, 51G>A, 55G>A, and 111G>A) associated with MOPD I cause defective U12-dependent splicing. Endogenous U12-dependent but not U2-dependent introns were found to be poorly spliced in MOPD I patient fibroblast cells. The introduction of wild-type U4atac snRNA into MOPD I cells enhanced U12-dependent splicing. These results illustrate the critical role of minor intron splicing in human development. 相似文献
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Sunada K Ding XG Utami MS Kawashima Y Miyama Y Hashimoto K 《Journal of agricultural and food chemistry》2008,56(12):4819-4824
TiO 2 photocatalytic decomposition and detoxification of phytotoxic compounds released by the roots of asparagus ( Asparagus officinalis L.) were investigated from the viewpoint of conservation-oriented cultivation. The phytotoxically active fraction was extracted either from dried asparagus roots or from the recycled nutrient solution of an asparagus hydroponic cultivation system. We found that the phytotoxic activity gradually decreased in the fraction with TiO 2 powder under irradiation with ultraviolet (UV) light at an intensity of 1.0 mW/cm (2). The growth of asparagus plants under actual cultivation conditions was also investigated by comparing asparagus grown in a hydroponic system where recycled waste nutrient solution was photocatalytically treated with solar light and a system with untreated recycled waste nutrient solution. The results showed, as measured by growth indices such as stem length and stem thickness, that asparagus growth in the photocatalytically treated system was superior to the untreated one. Furthermore, the yield of asparagus spears was 1.6-fold greater in the photocatalytically treated system, demonstrating the detoxification effect on the phytotoxic compounds and also the killing effect on pathogenic microorganisms. 相似文献
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Tiejun Zhang Sandya Kesoju Stephanie L. Greene Steven Fransen Jinguo Hu Long-Xi Yu 《Genetic Resources and Crop Evolution》2018,65(2):471-484
Drought is a major environmental factor hampering alfalfa productivity worldwide. Gene banks provide an array of trait diversity, frequently consisting of specific seed collection projects that focused on acquiring germplasm adapted to specific traits such as drought tolerance. These subsets provide a logical starting point to identify useful breeding resources. In the present study, we investigated the genetic diversity and evaluated 18 agronomic, physiological and quality traits associated with drought tolerance in a subset of 198 alfalfa accessions collected for their potential drought resistance. Significant differences were found among accessions for most of the traits evaluated. Water deficit significantly decreased biomass dry yield by 61.9% compared with well-watered control. A positive correlation was found between relative water content (RWC) and drought susceptible index, while negative correlations were found between RWC and leaf senescence (LS), and between RWC and canopy temperature (CT). Alfalfa accessions with high RWC showed relative lower yield reduction, cooler CT and delayed LS. Genetic variation for forage quality was also investigated and the correlation between agronomic and quality traits was analyzed. Biomass yield under drought was negatively correlated with total protein, relative feed value and relative forage quality, suggesting that the efforts to improve yield under drought tend to negatively affect forage quality. Therefore, maintaining forage quality should be considered for breeding alfalfa with drought resistance. Alfalfa accessions with high drought resistance scores and minimum loss of quality were identified in this study and can be used as genetic resources for developing alfalfa varieties with improved drought resistance and water use efficiency while maintaining forage quality. 相似文献
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