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1.
Jordi Valls-Margarit Ivn Galvn-Femenía Daniel Matías-Snchez Natalia Blay Montserrat Puiggrs Anna Carreras Cecilia Salvoro Beatriz Corts Ramon Amela Xavier Farre Jon Lerga-Jaso Marta Puig Jose
Francisco Snchez-Herrero Victor Moreno Manuel Perucho Lauro Sumoy Lluís Armengol Olivier Delaneau Mario Cceres Rafael de
Cid David Torrents 《Nucleic acids research》2022,50(5):2464
The combined analysis of haplotype panels with phenotype clinical cohorts is a common approach to explore the genetic architecture of human diseases. However, genetic studies are mainly based on single nucleotide variants (SNVs) and small insertions and deletions (indels). Here, we contribute to fill this gap by generating a dense haplotype map focused on the identification, characterization, and phasing of structural variants (SVs). By integrating multiple variant identification methods and Logistic Regression Models (LRMs), we present a catalogue of 35 431 441 variants, including 89 178 SVs (≥50 bp), 30 325 064 SNVs and 5 017 199 indels, across 785 Illumina high coverage (30x) whole-genomes from the Iberian GCAT Cohort, containing a median of 3.52M SNVs, 606 336 indels and 6393 SVs per individual. The haplotype panel is able to impute up to 14 360 728 SNVs/indels and 23 179 SVs, showing a 2.7-fold increase for SVs compared with available genetic variation panels. The value of this panel for SVs analysis is shown through an imputed rare Alu element located in a new locus associated with Mononeuritis of lower limb, a rare neuromuscular disease. This study represents the first deep characterization of genetic variation within the Iberian population and the first operational haplotype panel to systematically include the SVs into genome-wide genetic studies. 相似文献
2.
The injection of plasmid DNA in mouse muscle results in lifelong persistence of DNA, gene expression, and humoral response 总被引:1,自引:0,他引:1
The duration of the immune response against any vaccine is critical. The present study was performed to determine the stability
of injected plasmid deoxyribonucleic acid (DNA), the duration of gene expression in mouse muscle, as well as the duration
of the immune response generated in mice after injection of plasmid pSO2C1 harboring the cry11Bb gene of Bacillus thuringiensis serovar. medellin. The localization and the persistence of the inoculated gene were determined by in situ hybridization and polymerase chain reaction (PCR). The results demonstrated that plasmid DNA can persist in mouse muscle
for up to 2 yr. Moreover, immunohistochemical analysis showed that Cry11Bb protein was expressed for the lifetime of the mice
at a low but significant level. Finally, production of Cry11Bb-specific antibodies in mice injected with pSO2C1 was high and
durable as significant antibody titers were observed up to 119 wk after injection of the plasmid. This persistent immune response
is likely owing to the existence of a protein and/or DNA depot in the organism, which serves to maintain the immune response,
acting as a secondary or booster immunization. 相似文献
3.
Armengol R Pabón M Santolaria P Cabezón O Adelantado C Yániz J López-Gatius F Almería S 《The Journal of parasitology》2007,93(5):1029-1032
Neospora caninum seroprevalence and risk factors affecting seroprevalence in beef cattle in Andorra were investigated. Antibodies to N. caninum were evaluated by enzyme-linked immunosorbent assay performed on a yearly basis in 1,758 animals older than 6 mo, belonging to 26 herds. Mean seroprevalence of antibodies to N. caninum for the herds was 7.4 +/- 1.2% (130/1,758). Logistic regression analyses were performed on data from each animal, considering N. caninum seropositivity as the dependent variable, and herd, grazing area, year of sampling, repeat-test animal (animals sampled twice or more), sex, breed, age (animals <4 yr old or > or =5 yr old), and country of birth as possible risk factors. Based on the odds ratio, the prevalence of infection was 2.1 times higher (P < 0.01) in animals from the Ordino grazing area, 1.64 times higher in animals older than 5 yr (P < 0.01), and 6.7 times (1/0.15) lower in Limousin-mixed Limousin cattle (P < 0.002). The results suggest that the particular grazing location could promote the horizontal transmission of this parasite and that certain breeds are less susceptible to N. caninum infection than others. 相似文献
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5.
Maduell P Armengol G Llagostera M Lindow S Orduz S 《Journal of applied microbiology》2007,103(6):2593-2600
AIMS: We addressed the process of immigration of Bacillus thuringiensis from soil to leaves and its capacity to grow on bean diffusate medium (BDM), a medium designed to simulate the nutrient composition of the phylloplane. METHODS AND RESULTS: Two different B. thuringiensis strains were inoculated into soils, onto seeds or onto lower leaves of bean plants to determine if they were able to disperse to upper leaves under controlled conditions. While B. thuringiensis isolates were commonly recovered from leaves exposed to such inocula, populations were very low (<10 CFU cm(-2) of leaf). In addition, the number of cells of B. thuringiensis recovered decreased with increasing distance from the soil or from the inoculated leaves. Moreover, B. thuringiensis colonies did not grow well on BDM. CONCLUSIONS: This indicates that B. thuringiensis disperses poorly from the soil or the seed to the leaves or between leaves of the same plant under controlled conditions. Bacillus thuringiensis apparently has greater nutrient requirements than other bacterial species that are prominent inhabitants of the phylloplane. SIGNIFICANCE AND IMPACT OF THE STUDY: Finding the mechanisms that favour bacteria colonization on leaves will in turn help to improve the efficacy of biocontrol agents against the target pests. 相似文献
6.
AIM: To evaluate the genetic and molecular diversity and insecticidal activity of Bacillus thuringiensis isolates from all the natural regions of Colombia. METHODS AND RESULTS: A total of 445 isolates from a collection of B. thuringiensis were characterized. The parasporal crystal morphology that was most abundant was bipyramidal (60%). Almost 10% of the isolates were toxic to Spodoptera frugiperda and 5.6% against Culex quinquefasciatus larvae. cry gene content determined by PCR indicated that 10.6% of the isolates contained cry1 genes and 1.1% contained cry2, cry4 or cry11 genes. Protein content of the parasporal crystal was determined by SDS-PAGE; 25 and 18 different protein profiles were found in isolates active against S. frugiperda and C. quinquefasciatus, respectively. CONCLUSIONS: Bacillus thuringiensis presents great genetic and molecular diversity even in isolates from the same soil sample. Moreover, the diversity and activity of the isolates might have a relationship with the geographical origin of the samples. SIGNIFICANCE AND IMPACT OF THE STUDY: The results obtained here indicate that some of the B. thuringiensis isolates characterized in this study are potential control agents that could be used in programmes against mosquitoes and S. frugiperda. 相似文献
7.
Expression of the Bacillus thuringiensis Mosquitocidal Toxin Cry11Aa in the Aquatic Bacterium Asticcacaulis excentricus 总被引:2,自引:0,他引:2
A mosquitocidal aquatic bacterium has been developed by introducing an operon containing the cry11Aa, and p20 genes from Bacillus thuringiensis subsp. israelensis (Bti) into the gram-negative aquatic bacterium Asticcacaulis excentricus. After transformation, the cry11Aa gene was successfully expressed in recombinant A. excentricus under the tac promoter, at the level of 0.04 pg/cell. The recombinant bacteria were toxic to Aedes aegypti larvae with an LC50 of 6.83 × 105 cells/mL. We believe that these bacteria may have potential as genetically engineered microorganisms for the control of mosquito
larvae. 相似文献
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Goidts V Armengol L Schempp W Conroy J Nowak N Müller S Cooper DN Estivill X Enard W Szamalek JM Hameister H Kehrer-Sawatzki H 《Human genetics》2006,119(1-2):185-198
Copy number differences (CNDs), and the concomitant differences in gene number, have contributed significantly to the genomic
divergence between humans and other primates. To assess its relative importance, the genomes of human, common chimpanzee,
bonobo, gorilla, orangutan and macaque were compared by comparative genomic hybridization using a high-resolution human BAC
array (aCGH). In an attempt to avoid potential interference from frequent intra-species polymorphism, pooled DNA samples were
used from each species. A total of 322 sites of large-scale inter-species CND were identified. Most CNDs were lineage-specific
but frequencies differed considerably between the lineages; the highest CND frequency among hominoids was observed in gorilla.
The conserved nature of the orangutan genome has already been noted by karyotypic studies and our findings suggest that this
degree of conservation may extend to the sub-microscopic level. Of the 322 CND sites identified, 14 human lineage-specific
gains were observed. Most of these human-specific copy number gains span regions previously identified as segmental duplications
(SDs) and our study demonstrates that SDs are major sites of CND between the genomes of humans and other primates. Four of
the human-specific CNDs detected by aCGH map close to the breakpoints of human-specific karyotypic changes [e.g., the human-specific
inversion of chromosome 1 and the polymorphic inversion inv(2)(p11.2q13)], suggesting that human-specific duplications may
have predisposed to chromosomal rearrangement. The association of human-specific copy number gains with chromosomal breakpoints
emphasizes their potential importance in mediating karyotypic evolution as well as in promoting human genomic diversity.
Electronic Supplementary Material Supplementary material is available for this article at and is accessible for authorized users. 相似文献
10.
Liselotte Aristimuño Raimond Armengol Alberto Cebollada Mercedes España Alexis Guilarte Carmen Lafoz María A Lezcano María J Revillo Carlos Martín Carmen Ramírez Nalin Rastogi Janet Rojas Albina Vázques de Salas Christophe Sola Sofía Samper 《BMC microbiology》2006,6(1):1-12