3 resultados para SINGLE-BASE POLYMORPHISMS

em Bucknell University Digital Commons - Pensilvania - USA


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Recent research has provided evidence of a link between behavioral measures of social cognition (SC) and neural and genetic correlates. Differences in face processing and variations in the oxytocin receptor (OXTR) gene have been associated with SC deficits and autism spectrum disorder (ASD) traits. Much work has examined the qualitative differences between those with ASD and typically developing (TD) individuals, but very little has been done to quantify the natural variation in ASD-like traits in the typical population. The present study examines this variation in TD children using a multidimensional perspective involving behavior assessment, neural electroencephalogram (EEG) testing, and OXTR genotyping. Children completed a series of neurocognitive assessments, provided saliva samples for sequencing, and completed a face processing task while connected to an EEG. No clear pattern emerged for EEG covariates or genotypes for individual OXTR single nucleotide polymorphisms (SNPs). However, SNPs rs2254298 and rs53576 consistently interacted such that the AG/GG allele combination of these SNPs was associated with poorer performance on neurocognitive measures. These results suggest that neither SNP in isolation is risk-conferring, but rather that the combination of rs2254298(A/G) and rs53576(G/G) confers a deleterious effect on SC across several neurocognitive measures. Copyright 2014. Published by Elsevier Ltd.

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This study investigates the mechanical implications of shell shape differences between males and females of two North American turtle species: Chrysemys picta and Glyptemys insculpta. These species show patterns of sexual dimorphism that are common to many species of turtle. Females have wider and more highly domed shells, whereas males tend to have flatter, more streamlined shells. In addition, the males of many terrestrial species have concave plastra, most likely to accommodate the domed shells of the females while mating. The purpose of this study was to determine whether the known morphological differences in male and female turtle shells are also associated with differences in shell strength. Landmark coordinate data were collected from the shells of males and females of both species. These data were used to create digital models of each shell for finite-element (FE) analysis. FE models were generated by transforming a single base model of a turtle shell to match the shapes of each specimen examined in this study. All models were assigned the same material properties and restraints. Twelve load cases, each representing a predator’s bite at a different location on the carapace, were applied separately to the models. Subsequently, Von Mises stresses were extracted for each element of each model. Overall, the shells of females of both species exhibited significantly lower maximum and average stresses for a given load than those of their male counterparts. Male G. insculpta exhibited significant increases in stresses because of the concave shape of their plastra. We suggest that the mechanical implications of shell shape differences between males and females may have a large impact on many aspects of the biology of these turtle species.

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Autism spectrum disorders (ASD) are pervasive developmental disorders that affect approximately 1 in 50 children (Blumberg et al., 2013). Due to the social nature of the deficits that characterize the disorders, many have classified them as disorders of social cognition, which is the process that individuals use in order to successfully interact with members of their own species (Frith & Frith, 2007). Previous research has typically neglected the spectrum nature of ASD in favor of a more categorical approach of ¿autistic¿ versus ¿non-autistic,¿ but the spectrum requires a more continuous approach. Thus, the present study sought to examine the genetic, social-cognitive, and neural correlates of ASD-like traits as well as the relationship between these dimensions in typically developing children. Parents and children completed several quantitative measures examining several areas of social-cognitive functioning, including theory of mind and social functioning, restricted/repetitive behaviors and interests, and adaptive/maladaptive functioning. Children were also asked to undergo an EEG and both parents and children contributed a saliva sample that was used to sequence four single nucleotide polymorphisms (SNPs) of the OXTR gene, rs1042778, rs53576, rs2254298, and rs237897. We successfully demonstrated a significant relationship between behavioral measures of social-cognition and differences in face perception via the N170. However, the directionality of these relationships varied based on the behavioral measure and particular N170 difference scores. We also found support for the associations between the G_G allelic combination of rs1042778 and the A_A and A_G allelic combinations of rs2254298 and increased ASD-like behavior with decreased social-cognitive functioning. In contrast, our results contradict previous findings with rs237897 and imply that individuals with the A_A and A_G genotypes are less similar to those with ASD and have higher social cognitive functioning than those with the G_G genotype. In conclusion, we have demonstrated the existence of ASD-like traits in typically developing children and have shown a link between behavioral, genetic, and neural correlates of social-cognition. These findings demonstrate the importance of considering autism as a spectrum disorder and provide support for the move to a more continuous approach to neurodevelopmental disorders.