ABSTRACT
Purpose: Escherichia coli isolated from asymptomatic bacteriuria (ABU) correlated genotypically and phenotypically with cystitis isolates may help in distinguishing urovirulence determinants from ‘fitness factors’, latter necessary only for survival of E. coli in urinary tract; for gaining insight into the pathogenesis of urinary tract infection. Materials and Methods: In this cross‑sectional study, we compared genotypic (phylogroups and 15 putative virulence genes), and phenotypic profiles of ABU E. coli strains with our previously genotyped collection of cystitis isolates. Virulence score was calculated for each isolate as a number of virulence genes detected. Results: Significant differences were observed in the proportion of four phylogenetic groups (P = 0.009) amongst cystitis and ABU isolates. Average virulence score was higher for ABU isolates (6.6) than cystitis strains (4.2); and hlyA (P = 0.001), cytotoxic necrotising factor 1 (P = 0.00), fyuA (P = 0.00), ibeA (P = 0.00), kpsMII (P = 0.01), and malX/pathogenicity‑associated island (P = 0.01) were more frequently present in ABU strains. Conclusions: The expression of adhesins, haemolysin, aerobactin, and capsule synthesis gene were similar in two groups suggesting their role as fitness factors. ABU isolates were better biofilm producers, reflecting its importance in silent persistence. Serum resistance gene which was more expressed in cystitis isolates may represent virulence determinant. Genetic makeup of E. coli does not change much rather genes helping in survival and colonisation are expressed equally in ABU and cystitis isolates as opposed to phenotypic attenuation of those that helps in invasion or inflammation in ABU isolates.
ABSTRACT
CONTEXT: Alterations in the human chromosomal complement are expressed phenotypically ranging from (i) normal, via (ii) frequent fetal loss in otherwise normal person, to (iii) sub‑clinical to severe mental retardation and dysmorphism in live births. A subtle and microscopically undetectable chromosomal alteration is uniparental disomy (UPD), which is known to be associated with distinct birth defects as per the chromosome involved and parental origin. UPD can be evident due to imprinted genes and/or activation of recessive mutations. AIMS: The present study comprises of data mining of published UPD cases with a focus on associated phenotypes. The goal was to identify non‑random and recurrent associations between UPD and various genetic conditions, which can possibly indicate the presence of new imprinted genes. SETTINGS AND DESIGN: Data mining was carried out using the homepage “http://www.fish.uniklinikum‑jena.de/ UPD.html,” an online catalog of published cases with UPD. MATERIALS AND METHODS: The UPD cases having normal karyotype and with or without clinical findings were selected to analyze the associated phenotypes for each chromosome, maternal or paternal involved in UPD. RESULTS: Our results revealed many genetic conditions (other than the known UPD syndromes) to be associated with UPD. Even in cases of bad obstetric history as well as normal individuals chance detection of UPD has been reported. CONCLUSIONS: The role of UPD in human genetic disorders needs to be studied by involving larger cohorts of individuals with birth defects as well as normal population. The genetic conditions were scrutinized in terms of inheritance patterns; majority of these were autosomal recessive indicating the role of UPD as an underlying mechanism.
Subject(s)
Congenital Abnormalities/analysis , Congenital Abnormalities/epidemiology , Congenital Abnormalities/genetics , Congenital Abnormalities/statistics & numerical data , Data Mining/methods , Data Mining/statistics & numerical data , Phenotype , Uniparental DisomyABSTRACT
Este trabajo comparó la plasticidad fenotípica (PF) a través de la etapa vegetativa de dos especies del genero Lippia (Verbenaceae) que presentan amplitud ecológica contrastante con respecto a la disponibilidad de nitrógeno. Lippia alba, especie distribuida en suelos de alta a baja disponibilidad de nitrógeno y Lippia origanoides distribuida en suelos con baja disponibilidad de nitrógeno. Nuestra hipótesis de trabajo planteó que la magnitud de la plasticidad fenotípica en estas especies podría correlacionarse con su amplitud ecológica. Treinta y cinco clones de Lippia alba y Lippia origanoides fueron asignado aleatoriamente en tres tratamientos que variaron en la disponibilidad de nitrógeno en el suelo así: 0,5; 2,5 y 5 mM. A los 25, 35, 50 y 70 días cinco clones de cada especie por tratamiento fueron colectadas. Se evaluó el numero de hojas, área foliar, fracción masa de las hojas, fracción masa de la raíz, razón raíz/parte aérea, volumen de la raíz, longitud de la raíz, masa seca total y tasa de crecimiento relativo. Los resultados indican que ambas plantas presentan una alta PF a la disponibilidad de nitrógeno; sin embargo, las normas de reacción de los caracteres estimados variaron dependiendo de la especie y la edad de la planta. Contrario a nuestra hipótesis no encontramos una correlación entre la PF y la distribución ecológica de estas especies.
Here we present a comparative study of phenotypic plasticity in response to soil nitrogen availability in two perennial Lippia species that show different ecological breadth. Lippia alba occurs in soils whith low to high nitrogen concentrations, while Lippia origanoides is only found in soils whit low nitrogen concentrations. We hypothesized that the magnitude of phenotypic plasticity of these species could be correlated with their ecological breadth. Thirty five clones of L. alba and L. origanoides were putted randomly in three treatments with different nitrogen concentrations: 0.5, 2.5 and 5 mM. At 25, 35, 50 and 70 days five plants per treatment was harvested and the number of leaves, leaf area, leaf mass fraction, root mass fraction, root shoot, radical volume, root length, total mass and relative growth rate were evaluated. The results showed that both plants displayed high amounts of phenotypic plasticity in response to nitrogen availability. The reaction norms changed depending of the species and plant age. Contrary to our hypothesis we did not found a correlation between magnitude of phenotypic plasticity and ecological breath.