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Structural Polymorphisms (structural + polymorphism)
Selected AbstractsStructural polymorphism of pyrazinium hydrogen sulfate: extending chemistry of the pyrazinium salts with small anionsACTA CRYSTALLOGRAPHICA SECTION B, Issue 4 2010Armand Budzianowski Two polymorphs (,, ,) of pyrazinium hydrogen sulfate (pyzH+HSO, abbreviated as PHS) with distinctly different hydrogen-bond types and topologies but close electronic energies have been synthesized and characterized for the first time. The ,-polymorph (P212121) forms distinct blocks in which the pyzH+ and HSO ions are interconnected through a network of NH...O and OH...O hydrogen bonds. The ,-form () consists of infinite chains of alternating pyzH+ and HSO ions connected by NH...O and OH...N hydrogen bonds. Density functional theory (DFT) calculations indicate the possible existence of a hypothetical polar P1 form of the ,-polymorph with an unusually high dipole moment. [source] Comprehensive Analysis of Expressed Sequence Tags from the Pulp of the Red Mutant ,Cara Cara' Navel Orange (Citrus sinensis Osbeck)JOURNAL OF INTEGRATIVE PLANT BIOLOGY, Issue 10 2010Jun-Li Ye Expressed sequence tag (EST) analysis of the pulp of the red-fleshed mutant ,Cara Cara' navel orange provided a starting point for gene discovery and transcriptome survey during citrus fruit maturation. Interpretation of the EST datasets revealed that the mutant pulp transcriptome held a high section of stress responses related genes, such as the type III metallothionein-like gene (6.0%), heat shock protein (2.8%), Cu/Zn superoxide dismutase (0.8%), late embryogenesis abundant protein 5 (0.8%), etc. 133 transcripts were detected to be differentially expressed between the red mutant and its orange-color wild genotype ,Washington' via digital expression analysis. Among them, genes involved in metabolism, defense/stress and signal transduction were statistical overrepresented. Fifteen transcription factors, composed of NAM, ATAF, and CUC transcription factor (NAC); myeloblastosis (MYB); myelocytomatosis (MYC); basic helix-loop-helix (bHLH); basic leucine zipper (bZIP) domain members, were also included. The data reflected the distinct expression profile and the unique regulatory module associated with these two genotypes. Eight differently expressed genes analyzed in digital were validated by quantitative real-time polymerase chain reaction. For structural polymorphism, both simple sequence repeats and single nucleotide polymorphisms (SNP) loci were surveyed; dinucleotide presentation revealed a bias toward AG/GA/TC/CT repeats (52.5%), against GC/CG repeats (0%). SNPs analysis found that transitions (73%) outnumbered transversions (27%). Seventeen potential cultivar-specific and 387 heterozygous SNP loci were detected from ,Cara Cara' and ,Washington' EST pool. [source] Structure of d -tyrosyl-tRNATyr deacylase using home-source Cu,K, and moderate-quality iodide-SAD data: structural polymorphism and HEPES-bound enzyme statesACTA CRYSTALLOGRAPHICA SECTION D, Issue 5 2010Manickam Yogavel d -Tyrosyl-tRNATyr deacylase (DTD) is an editing enzyme that removes d -amino acids from mischarged tRNAs. The crystal structure of Plasmodium falciparum DTD (PfDTD) was determined using the iodide-SAD phasing method. Iodide-derivatized PfDTD crystals were obtained using the quick cryo-soaking procedure in which native crystals were soaked for a short period of 10,30,s in cryoprotectant solution containing 0.2,1,M NaI. Iodide-SAD data sets were collected to 3.3 and 2.74,Å resolution from PfDTD crystals that belonged to two different space groups, P43 and P1, using an in-house X-ray copper-anode source. This is the first report to detail structure solution using low iodide anomalous signal, modest resolution and redundancy and average solvent content for SAD phasing of 984 and 1312 amino acids in the triclinic P1 and tetragonal P43 space groups, respectively. A total of 85% and 56% of the residues were automatically built into the iodide-phased electron-density maps using PHENIX AutoBuild. The structure of HEPES-bound PfDTD was subsequently determined by molecular replacement and refined to 2.83,Å resolution. The crystals obtained from various batches of crystallization trials of PfDTD exhibited polymorphism in terms of belonging to different crystal forms and space groups. Even within a given crystal system the unit-cell parameters showed high non-isomorphism. These packing variations were exploited in order to conduct a systematic study of conformational changes in PfDTD. It is shown that the disposition of a ten-residue insertion loop affects packing within the PfDTD crystals and seems to determine the non-isomorphism in unit-cell parameters. By tracking the changes in PfDTD unit cells, it was possible to map conformational differences within PfDTD that may be of significance for enzyme activity. [source] High-resolution mapping of the 8p23.1 beta-defensin cluster reveals strictly concordant copy number variation of all genes,HUMAN MUTATION, Issue 10 2008Marco Groth Abstract One unexpected feature of the human genome is the high structural variability across individuals. Frequently, large regions of the genome show structural polymorphisms and many vary in their abundance. However, accurate methods for the characterization and typing of such copy number variations (CNV) are needed. The defensin cluster at the human region 8p23.1 is one of the best studied CNV regions due to its potential clinical relevance for innate immunity, inflammation, and cancer. The region can be divided into two subclusters, which harbor predominantly either alpha- or beta-defensin genes. Previous studies assessing individual copy numbers gave different results regarding whether the complete beta-defensin cluster varies or only particular genes therein. We applied multiplex ligation-dependent probe amplification (MLPA) to measure defensin locus copy numbers in 42 samples. The data show strict copy number concordance of all 10 loci typed within the beta-defensin cluster in each individual, while seven loci within the alpha-defensin cluster are consistently found as single copies per chromosome. The exception is DEFA3, which is located within the alpha-defensin cluster and was found to also differ in copy number interindividually. Absolute copy numbers ranged from two to nine for the beta-defensin cluster and zero to four for DEFA3. The CNV-typed individuals, including HapMap samples, are publicly available and may serve as a universal reference for absolute copy number determination. On this basis, MLPA represents a reliable technique for medium- to high-throughput typing of 8p23.1 defensin CNV in association studies for diverse clinical phenotypes. Hum Mutat 0,1,8, 2008. © 2008 Wiley-Liss, Inc. [source] Identification of differentially expressed genes related to aberrant phenotypes in Brassica oleracea var. botrytisPLANT BREEDING, Issue 6 2009A. Salmon Abstract The aberrant phenotype is characterized by the progressive expression of abnormal traits during vegetative growth affecting leaf thickness, shape and/or plant vigour. These striking morphological abnormalities do not appear to be caused by agronomical practices or pathogen infections. Furthermore, the aberrant phenotype, which is observed in 3,20% of cultivated cauliflowers, is not linked to DNA sequence or structural polymorphisms. To detect candidate genes related to the aberrant phenotype, we used amplified fragment length polymorphism on cDNA approach, sampling normal and aberrant F1 hybrid plants several times before and after the expression of the aberrant phenotype. This screen led to the detection of 51 differentially expressed transcripts. Twenty-nine of these were homologous to annotated genes in genomic databases. We identified transcripts, which were differentially expressed before the expression of the aberrant trait with homology to genes involved in various abiotic stress responses. A non-specific lipid transfer protein homologue was also identified and given the role that these proteins play in epicuticular wax formation and leaf morphology, it may be implicated in the abnormal leaf shape phenotypes. [source] Autocitrullination of human peptidyl arginine deiminase type 4 regulates protein citrullination during cell activationARTHRITIS & RHEUMATISM, Issue 6 2010Felipe Andrade Objective To address mechanisms that control the activity of human peptidyl arginine deiminase type 4 (PAD-4). Methods PAD-4 autocitrullination was determined by anti,modified citrulline immunoblotting, using purified recombinant and endogenous PAD-4 from activated human primary neutrophils and cell lines expressing PAD-4. The citrullination sites in PAD-4 were determined by mass spectrometry. Mechanisms of autocitrullination-induced inactivation and the functional consequences of autocitrullination in PAD-4 polymorphic variants were addressed using purified components and cell lines expressing PAD-4 wild-type, PAD-4 mutant, and PAD-4 polymorphic variants relevant to rheumatoid arthritis (RA). Results PAD-4 is autocitrullinated in vitro and during activation of primary cells and cell lines expressing PAD-4. Interestingly, this modification inactivated the function of the enzyme. The efficiency of inactivation differed among genetically defined PAD-4 variants relevant to RA. PAD-4 was citrullinated at 10 sites, which are clustered into 3 distinct regions, including a cluster of arginines around the active site cleft where Arg-372 and -374 were identified as the potential autocitrullination targets that inactivate the enzyme. Autocitrullination also modified the structure of PAD-4, abrogating its recognition by multiple rabbit antibodies, but augmenting its recognition by human anti,PAD-4 autoantibodies. Conclusion Our findings suggest that autocitrullination regulates the production of citrullinated proteins during cell activation, and that this is affected by structural polymorphisms in PAD-4. Autocitrullination also influences PAD-4 structure and immune response. [source] | |||||||||||||