956 resultados para sequence variations


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We experimentally identified the activities of six predicted heptosyltransferases in Actinobacillus pleuropneumoniae genome serotype 5b strain L20 and serotype 3 strain JL03. The initial identification was based on a bioinformatic analysis of the amino acid similarity between these putative heptosyltrasferases with others of known function from enteric bacteria and Aeromonas. The putative functions of all the Actinobacillus pleuropneumoniae heptosyltrasferases were determined by using surrogate LPS acceptor molecules from well-defined A. hydrophyla AH-3 and A. salmonicida A450 mutants. Our results show that heptosyltransferases APL_0981 and APJL_1001 are responsible for the transfer of the terminal outer core D-glycero-D-manno-heptose (D,D-Hep) residue although they are not currently included in the CAZY glycosyltransferase 9 family. The WahF heptosyltransferase group signature sequence [S(T/S)(GA)XXH] differs from the heptosyltransferases consensus signature sequence [D(TS)(GA)XXH], because of the substitution of D(261) for S(261), being unique.

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Colorectal cancer (CRC) is the third most common cancer and the fourth leading cause of cancer death worldwide. About 85% of the cases of CRC are known to have chromosomal instability, an allelic imbalance at several chromosomal loci, and chromosome amplification and translocation. The aim of this study is to determine the recurrent copy number variant (CNV) regions present in stage II of CRC through whole exome sequencing, a rapidly developing targeted next-generation sequencing (NGS) technology that provides an accurate alternative approach for accessing genomic variations. 42 normal-tumor paired samples were sequenced by Illumina Genome Analyzer. Data was analyzed with Varscan2 and segmentation was performed with R package R-GADA. Summary of the segments across all samples was performed and the result was overlapped with DEG data of the same samples from a previous study in the group1. Major and more recurrent segments of CNV were: gain of chromosome 7pq(13%), 13q(31%) and 20q(75%) and loss of 8p(25%), 17p(23%), and 18pq(27%). This results are coincident with the known literature of CNV in CRC or other cancers, but our methodology should be validated by array comparative genomic hybridisation (aCGH) profiling, which is currently the gold standard for genetic diagnosis of CNV.

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Soitinnus: Urut.

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Soitinnus: Urut.

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Soitinnus: Urut.

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Soitinnus: Sello, piano.

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Soitinnus: Sello, piano.

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Soitinnus : Ork.

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Soitinnus: Sello, piano.

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Soitinnus: orkesteri.

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Understanding the factors controlling fine root respiration (FRR) at different temporal scales will help to improve our knowledge about the spatial and temporal variability of soil respiration (SR) and to improve future predictions of CO2 effluxes to the atmosphere. Here we present a comparative study of how FRR respond to variability in soil temperature and moisture in two widely spread species, Scots pines (Pinus sylvestris L.) and Holm-oaks (HO; Quercus ilex L.). Those two species show contrasting water use strategies during the extreme summer-drought conditions that characterize the Mediterranean climate. The study was carried out on a mixed Mediterranean forest where Scots pines affected by drought induced die-back are slowly being replaced by the more drought resistant HO. FRR was measured in spring and early fall 2013 in excised roots freshly removed from the soil and collected under HO and under Scots pines at three different health stages: dead (D), defoliated (DP) and non-defoliated (NDP). Variations in soil temperature, soil water content and daily mean assimilation per tree were also recorded to evaluate FRR sensibility to abiotic and biotic environmental variations. Our results show that values of FRR were substantially lower under HO (1.26 ± 0.16 microgram CO2 /groot·min) than under living pines (1.89 ± 0.19 microgram CO2 /groot·min) which disagrees with the similar rates of soil respiration previously observed under both canopies and suggest that FRR contribution to total SR varies under different tree species. The similarity of FRR rates under HO and DP furthermore confirms other previous studies suggesting a recent Holm-oak root colonization of the gaps under dead trees. A linear mixed effect model approach indicated that seasonal variations in FRR were best explained by soil temperature (p<0.05) while soil moisture was not exerting any direct control over FRR, despite the low soil moisture values during the summer sampling. Plant assimilation rates were positively related to FRR explaining part of the observed variability (p<0.01). However the positive relations of FRR with plant assimilation occurred mainly during spring, when both soil moisture and plant assimilation rates were higher. Our results finally suggest that plants might be able to maintain relatively high rates of FRR during the sub-optimal abiotic and biotic summer conditions probably thanks to their capacity to re-mobilize carbon reserves and their capacity to passively move water from moister layers to upper layers with lower water potentials (where the FR were collected) by hydraulic lift.