92 resultados para PHENOTYPIC ASSOCIATIONS


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The OSCAR test, a clinical device that uses counterphase flicker photometry, is believed to be sensitive to the relative numbers of long-wavelength and middle-wavelength cones in the retina, as well as to individual variations in the spectral positions of the photopigments. As part of a population study of individual variations in perception, we obtained OSCAR settings from 1058 participants. We report the distribution characteristics for this cohort. A randomly selected subset of participants was tested twice at an interval of at least one week: the test-retest reliability (Spearman's rho) was 0.80. In a whole-genome association analysis we found a provisional association with a single nucleotide polymorphism (rs16844995). This marker is close to the gene RXRG, which encodes a nuclear receptor, retinoid X receptor γ. This nuclear receptor is already known to have a role in the differentiation of cones during the development of the eye, and we suggest that polymorphisms in or close to RXRG influence the relative probability with which long-wave and middle-wave opsin genes are expressed in human cones.

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The behavioural phenotypes of Prader-Willi (PWS) and Fragile-X (FraX) syndromes both comprise repetitive behaviours with differences between the profiles. In this study we investigated the context and antecedents to the repetitive behaviours and the association with other behavioural phenotypic characteristics in order to generate testable hypotheses regarding the cause of the behaviours.

The parents or carers of 46 children with PWS (mean age 14.1 years; 20 girls), and 33 boys with FraX (mean age 13.11 years) were interviewed about their children's repetitive behaviour in a semi-structured format.

Children showed negative emotional behaviour (PWS: 87.0%; FraX: 79.4%) and repetitive questions (PWS: 78.3%; FraX: 73.5%) following changes in routine or expectations. Significantly more temper outbursts were reported to follow changes in children with PWS (89.1%) compared with boys with FraX (41.2%) (chi(2) = 20.93; P <0.001). Anxiety that was frequently associated with repetitive and self-injurious behaviours in boys with FraX, followed changes in significantly more boys with FraX (76.5%) compared with children with PWS (6.5%) (chi(2) = 43.19, P <0.001).

On the basis of these reports and existing literature, we hypothesise that decreases in predictability are aversive to children with PWS and FraX. We also hypothesise that these children have a propensity to show a syndrome-related pattern of behaviour (temper outbursts in PWS and displays of anxiety in FraX) when an event in the environment has this aversive property. We hypothesise that questions may be reinforcing to children in their own right by increasing the predictability of the environment. We outline how a specific cognitive deficit in the endophenotypes associated with both PWS and FraX could be investigated as a potential explanation for the hypothesised aversive properties of decreased predictability.

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This investigation examined whether pigs form long-term preferential associations or ‘friendships’ and factors that may influence the formation of these relationships. Thirty-three pigs from 16 litters were housed together from 4 weeks of age. At 10 weeks they were split into two groups of 16 and 17 pigs and each introduced into 3.05 m × 3.66 m observation pens (1st pen). At 17 weeks the two groups swapped pens (2nd pen). The lying patterns of each group were recorded over 3 weeks in both the 1st and 2nd pens. To identify dyads with preferential associations, association indices were calculated for each pair based on their lying patterns and analysed using SOCPROG1.3 and the permutation method [Whitehead, H., 1999. Programs for analysing social structure. SOCPROG 1.2, http://is.dal.cal/~whitelab/index.htm]. Dyads with high association indices for at least 2 out of 3 weeks in either pen, i.e. =0.10 (twice the mean), were classed as having preferential associations. Mantel tests were used to examine the relationship between the relative sex, weight, familiarity and relatedness of a dyad and their level of association and to examine consistency of associations between pens. The existence of preferential associations was identified in both groups, since the standard deviations for the observed half-weight association index means were significantly higher than for the randomly permuted half-weight association index means (P < 0.001). Of the 33 pigs observed, 32 formed preferential associations with one or more pigs in their group, resulting in 50 dyads. Only six dyads (12 pigs) formed preferential associations in both pens, suggesting that the remaining dyads either formed short-term associations only or were simply displaying a shared preference for the same lying location. Levels of association between pens showed no significant correlation. The relative sex, weight, familiarity and relatedness of dyad members also showed no significant correlation with their level of association. These findings suggest that unrelated pigs are capable of forming preferential associations. However, it is unclear whether such associations are widespread or important to pigs, since most dyads’ preferential associations were not consistent between pens.

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Absolute and differential chemical abundances are presented for the largest group of massive stars in M31 studied to date. These results were derived from intermediate resolution spectra of seven B-type supergiants, lying within four OB associations covering a galactocentric distance of 5-12 kpc. The results are mainly based on an LTE analysis, and we additionally present a full non-LTE, unified model atmosphere analysis of one star (OB 78-277) to demonstrate the reliability of the differential LTE technique. A comparison of the stellar oxygen abundance with that of previous nebular results shows that there is an off set of between similar to0.15-0.4 dex between the two methods which is critically dependent on the empirical calibration adopted for the R 23 parameter with [O/H]. However within the typical errors of the stellar and nebular analyses (and given the strength of dependence of the nebular results on the calibration used) the oxygen abundances determined in each method are fairly consistent. We determine the radial oxygen abundance gradient from these stars, and do not detect any systematic gradient across this galactocentric range. We find that the inner regions of M31 are not, as previously thought, very "metal rich". Our abundances of C, N, O, Mg, Si, Al, S and Fe in the M31 supergiants are very similar to those of massive stars in the solar neighbourhood.

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The continued parent-offspring associations in the Eastern Canadian High Arctic light-bellied brent goose Branta bernicla hrota was examined to determine whether this is an example of continued parental investment or mutual assistance. Adults with juveniles spend more than twice as much time being vigilant and aggressive than do those without offspring. The loss of a partner, however, does not result in the remaining parent increasing parental care but does result in increased 'self-care' by the juveniles. Neither parents nor single-parent juveniles appear to pay an energetic cost relative to non-parental adults and two-parent juveniles, respectively. Differences in the feeding distribution of parents and non-parents and equivalent or better physical condition suggests that families are able to maintain access to a superior food supply over the winter. Passive 'assistance' by juveniles may assist in maintaining this position in favoured areas, and this is achieved with little overt aggression. The present study thus provides no data that show a net cost to parents by remaining with their juveniles over the winter period. Thus, mutual assistance might be a better explanation of the prolonged association rather than a period of parental investment with an overall cost.

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In arid regions, biodiversity and biomass are limited by water availability, and this problem has been compounded by desertification associated with global climate change. The saprotrophic macrofungi that are indigenous to hot subtropical and tropical regions, such as Pleurotus spp., can play key roles in water sequestration, nutrient cycling, human nutrition, and bioremediation of waste materials. We studied 15 strains of Pleurotus sajor-caju, a widespread and phenotypically-diverse species, to establish variability in growth response and primordium development over a range of stress parameters: osmotic potential (-0.5 to -5 MPa), temperature (5-40 degrees C) and pH (2-12). The initiation of primordia precedes basidiome production and therefore represents a key stage in bioremediation strategies and fungi-driven nutrient cycles. Primordia were produced at low pH (4-6), at suboptimal growth temperatures (<or =25 degrees C), and under moderate water stress (-0.5 to -3.5 MPa). Although the growth windows for different strains were similar, their maximum growth rates and the optimum conditions for growth varied. We discuss the phenotypic diversity of Pleurotus strains and discuss their potential for cultivation, bioremediation and ecological regeneration.