Search PubMed⌕ Search

SEARCH · Search PubMed

Results for “social phenotype”

Search indexed PubMed citations on genomics, clinical trials, systematic reviews and public health. Explore titles, authors and supplied subject terms, then open the PubMed record.

Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.

At least 19 recordsLinked to original sources

Defining and quantifying the social phenotype in autism.

OBJECTIVE: Genetic and neurofunctional research in autism has highlighted the need for improved characterization of the core social disorder defining the broad spectrum of syndrome manifestations. METHOD: This article reviews the advantages and limitations of current methods for the refinement and quantification of this highly heterogeneous social phenotype. RESULTS: The study of social visual pursuit by use of eye-tracking technology is offered as a paradigm for novel tools incorporating these requirements and as a research effort that builds on the emerging synergy of different branches of social neuroscience. CONCLUSIONS: Advances in the area will require increased consideration of processes underlying experimental results and a closer approximation of experimental methods to the naturalistic demands inherent in real-life social situations.

Adult↗

Developmental sculpting of social phenotype and plasticity.

Early developmental variables engender behavioral and neural variation, especially in species in which embryonic environment determines gonadal sex. In the leopard gecko, Eublepharis macularius, the incubation temperature of the egg (IncT) determines gonadal sex. Moreover, IncT affects the sexual differentiation of the individual and, consequently, within-sex variation. Individuals hatched from eggs incubated at an IncT that produces predominantly males are more masculinized than same-sex counterparts from IncTs that produce predominantly females. Here we review how gonadal sex and IncT interact to affect behavioral, endocrinological, and neural phenotype in the leopard gecko and influence phenotypic plasticity following hormone administration or social experience. We discuss the hormonal dependence of sex- and IncT-dependent behavioral and neural morphological and metabolic differences and highlight the parallels between IncT effects in geckos and intrauterine position effects in rodents. We argue that the leopard gecko is an important model of how the process of sex determination can affect sexual differentiation and of selection forces underlying the evolution of sex ratios.

Animals↗

The social behavioral phenotype of Kabuki syndrome.

OBJECTIVE: This study describes the social-communication and behavioral profile associated with Kabuki syndrome (KS), including exploratory comparisons between individuals with a pathogenic variant in KMT2D (KS1) versus KDM6A (KS2). METHOD: Thirty-five caregivers of children/adults with KS (25F, Mage = 13.45, SD = 7.60) completed the Social Responsiveness Scale 2nd Edition (SRS-2), Colorado Learning Difficulties Questionnaire, and/or Strengths and Difficulties Questionnaire. Descriptive analyses and non-parametric tests were conducted to examine behavioral trends in the entire cohort and to explore differences in social behaviors and autism characteristics between those with KS1 versus KS2. RESULTS: About a third of the sample have a prior diagnosis of autism spectrum disorder, with rates more elevated in KS2 versus KS1 (67% vs. 23%). In the full cohort, 72% fell in borderline/clinical ranges for Peer Problems, while only 3% yielded atypical scores for Prosocial Behaviors. Those with KS1 were rated to show most challenges in restricted/repetitive behaviors (RRBs), which fell in the moderately severe range, compared to other social domains (social communication, social awareness, social motivation). In contrast, social motivation was the sole area rated within normal limits. CONCLUSION: Those with KS2 showed greater difficulties across all social behavior/cognitive domains than KS1 counterparts, albeit both presented with similar severity in RRB and prosocial behaviors. Prominent features of the KS social behavioral phenotype include pronounced difficulties with inflexible behaviors and restricted interests juxtaposed with strong prosocial tendencies. KS2 may confer increased risk for autism-related characteristics, underscoring the need for more systematic investigations.

Humans↗

Alignment enhances the cell-to-cell transfer of pilus phenotype.

Social gliding motility of Myxococcus xanthus requires polar type IV pili. Tgl mutants lack pili and lack social motility. However, both defects can be rescued phenotypically, but not genotypically, when tgl+ donor and tgl- recipient cells make physical contact with each other. What is the cellular and molecular basis of this transfer of phenotype, which is called stimulation? Stimulation does not occur in liquid nor in soft (0.5%) agar; however, on a more firm surface (1.0% agar) cells stimulate each other efficiently. Microscopy revealed that cells placed on 1.0% agar readily became aligned whereas they remained poorly aligned on 0.5% agar. It was observed, moreover, that stimulation is greatly reduced when donor and recipient cells lack the ability to move because of mutations in any of several different motility genes. Microscopy showed that motile cells became highly aligned, and can even align nonmotile cells. Using a stimulation assay based on the assembly of pili, a strong correlation was found between conditions that promote cell alignment and the speed or extent of stimulation. Because pili are assembled only at the end(s) of a cell, and a parallel alignment of cells in contact brings them end-to-end, we would suggest that end-to-end contacts are important for stimulation of pilus assembly.

Bacterial Proteins↗

Evidence of phenotypic and social assortative mating for anthropometric and physiological traits in couples from the Basque country (Spain).

This study examined 28 anthropometrical and physiological traits in 107 married couples living in the province of Biscay (Basque Country, Spain). The aim was to verify the existence of a phenotypic and/or social preference when choosing a mate. For this, correlations between pairs of spouses were estimated by maximum likelihood, and a model of familial transmission (path analysis) was applied in order to test if social homogamy between mates existed. The results provide significant evidence of phenotypic as well as social homogamy in several of the studied traits. Even if an assortment existed when choosing a mate for bony traits such as height, the effect of cohabitation cannot be discounted as the main causal factor for the high phenotypic resemblance observed between spouses for body composition traits. In addition, with the social homogeneity of the studied sample, significant evidence of the existence of social homogamy between mates was only found for 20% of the studied variables.

Aged↗

X-chromosome inactivation patterns and androgen receptor functionality influence phenotype and social characteristics as well as pharmacogenetics of testosterone therapy in Klinefelter patients.

Klinefelter syndrome is characterized by a vast range of phenotypes related to androgen effects. Testosterone (T) acts via the X-linked androgen receptor gene carrying the CAG repeat (CAGn) polymorphism, the length of which is inversely associated with androgen action and might account for the marked variation in phenotypes. In 77 newly diagnosed and untreated Klinefelter patients with a 47,XXY karyotype we assessed phenotype and social traits in relation to X-weighted biallelic CAGn length using X-chromosome inactivation analysis after digestion of leukocyte DNA with methylation-sensitive HpaII. Forty-eight men were hypogonadal and received T substitution therapy; in these, pharmacogenetic effects were investigated. The shorter CAGn allele was preferentially inactive. CAGn length was positively associated with body height. Bone density and the relation of arm span to body height were inversely related to CAGn length. The presence of long CAGn was predictive for gynecomastia and smaller testes, whereas short CAGn were associated with a stable partnership and professions requiring higher standards of education also when corrected for family background. There was a trend for men with longer CAGn to be diagnosed earlier in life. Under T substitution, men with shorter CAGn exhibited a more profound suppression of LH levels, augmented prostate growth, and higher hemoglobin concentrations. A significant genotype-phenotype association exists in Klinefelter patients: androgen effects on appearance and social characteristics are modulated by the androgen receptor CAGn polymorphism. The effects of T substitution are pharmacogenetically modified. This finding is magnified by preferential inactivation of the more functional short CAGn allele.

Adult↗

A battery of olfactory-based screens for phenotyping the social and sexual behaviors of mice.

We provide a battery of screens that reflect the social and sexual behavior displayed by both captive and feral mice. Some screens focus on measuring aspects of chemical communication, providing information about whether or not mice will interact and if they do so, predict the nature of the interaction. Other screens measure direct interactions between target mice and same- and opposite-sex conspecifics, providing an indication of the social status and sexual responsiveness, respectively, of target mice. The battery of screens yields a high-throughput bioassay of a mouse's relative social status, competitive ability, social discrimination, and sexuality. These traits are essential elements of the socio-sexual behavior of mice as well as humans. Thus, by identifying phenotypic deviants for complex behaviors we will allow geneticists to map behavioral abnormalities onto specific chromosomes and increase the efficacy of genetically altered mice as models for human behavioral disorders.

Agonistic Behavior↗

Effect of queen phenotype and social environment on early queen mortality in incipient colonies of the fire ant, Solenopsis invicta.

In many ant species, including the fire ant Solenopsis invicta, queens can found their colonies alone or in associations of two or more. Colonies founded by associations produce a larger worker brood, have higher survival and mature earlier than colonies founded by solitary queens. However, cofoundresses almost invariably fight after the eclosion of the first workers. As a result, only one queen survives and monopolizes the colony's future reproductive output. Queen mortality also occurs before worker eclosion, but neither the causes (e.g. starvation, conflict), nor the factors (e.g. social environment) potentially affecting its occurrence, have been investigated. We analysed the effect of social environment and queen body mass on early mortality by keeping queens (1) solitarily, (2) within associations of four queens of the same initial mass, and (3) within associations of four queens of random initial mass. Mortality was higher for queens within associations than for solitary queens. Within associations of equally heavy queens, mortality significantly increased with the queens' body mass. In contrast, mortality of solitary queens did not significantly depend on body mass. Early mortality was significantly more frequent in associations of queens of random initial mass than in associations of equally heavy queens. Altogether these results demonstrate that queen phenotype differentially affects early queen mortality depending on the social environment, and suggest that reproductive competition rather than starvation is the main cause of mortality in multiple-queen associations. Copyright 1999 The Association for the Study of Animal Behaviour.

Journal Article↗

Multivariate models of mixed assortment: phenotypic assortment and social homogamy for education and fluid ability.

Phenotypic assortment is assumed to be the principal mechanism of spouse similarity in most biometrical studies. Other assortment mechanisms, such as social homogamy, may be plausible. Two models are presented that consider phenotypic assortment and social homogamy simultaneously (i.e., mixed assortment), where selective associations between social background factors (Model I) versus selective associations between total environments (Model II) distinguish the models. A series of illustrative analyses was undertaken for education and fluid ability available on a sample of 116 Swedish twin pairs and their spouses. On the basis of several fit criteria Model I was preferred over Model II. Both social homogamy and phenotypic assortment may contribute to spouse similarity for educational attainment and fluid ability. Furthermore, spouse similarity for fluid ability may arise indirectly from social homogamy and phenotypic assortment for educational attainment. Power analyses indicated greater observed power for Model I than Model II. Additional power analyses indicated that considerably more twin-spouse sets would be needed for Model II than Model I, to resolve social homogamy and phenotypic assortment. Effects of misspecification of mechanisms of spouse similarity are also briefly discussed.

Adult↗

Social stress alters splenocyte phenotype and function.

Social stress of group-housed male mice induced a state of functional glucocorticoid (GC) resistance in splenocytes. The following studies examined the effects of paired-fighting (PF) stress on immune cell distribution and function in spleens of male mice. Following six daily PF stress sessions, splenic monocytes and neutrophils increased and lymphocytes decreased. PF also altered the distribution of CD62L and CD11b positive monocytes. Additionally, PF augmented proliferation and lowered the sensitivity of LPS-stimulated splenocytes to the antiproliferative effects of corticosterone, suggesting that PF induced a state of GC resistance in splenocytes. Together, these findings indicate that social stress altered phenotype and function of splenic immune cells. These findings may have implications for the healing of bite wounds that are often associated with social stress in rodents.

Animals↗

Comprehensive mutation identification in an evolved bacterial cooperator and its cheating ancestor.

Precise characterization of the mutation histories of evolutionary lineages is crucial for understanding the evolutionary process, yet mutation identification has been constrained by traditional techniques. We sought to identify all accumulated mutations in an experimentally evolved lineage of the cooperative bacterium Myxococcus xanthus, which constructs fruiting bodies by a process of social multicellular development in response to starvation. This lineage had undergone two major transitions in social phenotype: from an ancestral cooperator to a socially defective cheater, and from the cheater to a competitively dominant cooperator that re-evolved social and developmental proficiency. The 9.14-Mb genome of the evolved, dominant cooperator (strain "PX") was sequenced to approximately 19-fold coverage by using recent "sequencing-by-synthesis" technology and partially sequenced (approximately 45%) by using capillary technology. The resulting data revealed 15 single-nucleotide mutations relative to the laboratory ancestor of PX after the two phases of experimental evolution but no evidence of duplications, transpositions, or multiple-base deletions. No mutations were identified by capillary sequencing beyond those found by pyrosequencing, resulting in a high probability that all mutations were discovered. Seven errors in the reference strain previously sequenced by the Sanger approach were revealed, as were five mutational differences between two distinct laboratory stocks of the reference strain. A single mutation responsible for the restoration of development in strain PX was identified, whereas 14 mutations occurred during the prior phase of experimental evolution. These results provide insight into the genetic basis of two large adaptive transitions in a social bacterium.

Adaptation, Biological↗

II. Hypersociability in Williams Syndrome.

Studies of abnormal populations provide a rare opportunity for examining relationships between cognition, genotype and brain neurobiology, permitting comparisons across these different levels of analysis. In our studies, we investigate individuals with a rare, genetically based disorder called Williams syndrome (WMS) to draw links among these levels. A critical component of such a cross-domain undertaking is the clear delineation of the phenotype of the disorder in question. Of special interest in this paper is a relatively unexplored unusual social phenotype in WMS that includes an overfriendly and engaging personality. Four studies measuring distinct aspects of hypersocial behavior in WMS are presented, each probing specific aspects in WMS infants, toddlers, school age children, and adults. The abnormal profile of excessively social behavior represents an important component of the phenotype that may distinguish WMS from other developmental disorders. Furthermore, the studies show that the profile is observed across a wide range of ages, and emerges consistently across multiple experimental paradigms. These studies of hypersocial behavior in WMS promise to provide the groundwork for crossdisciplinary analyses of gene-brain-behavior relationships.

Adolescent↗

Frontostriatal dysfunction during response inhibition in Williams syndrome.

BACKGROUND: Williams syndrome (WS) has provided researchers with an exciting opportunity to understand the complex interplay among genes, neurobiological and cognitive functions. However, despite a well-characterized cognitive and behavioral phenotype, little attention has been paid to the marked deficits in social and behavioral inhibition. Here we explore the neural systems that mediate response inhibition in WS. METHODS: We used functional MRI (fMRI) to obtain blood oxygenation level dependence (BOLD) signal maps during the performance of a Go/NoGo response inhibition task from 11 clinically and genetically diagnosed WS patients and 11 age- and gender-matched typically developing (TD) control subjects. Correlations between behavioral, neuropsychological measures, and BOLD signal were also conducted. RESULTS: Although TD control subjects showed significantly faster response times, no group differences in behavioral accuracy were observed. Compared with control subjects, WS participants demonstrated significantly reduced activity in the striatum, dorsolateral prefrontal, and dorsal anterior cingulate cortices. These findings support the hypothesis that persons with WS fail to activate critical cortical and subcortical structures involved in behavioral inhibition. CONCLUSIONS: Our results provide important evidence for reduced engagement of the frontostriatal circuits in WS and provide putative biological markers for the deficits in response inhibition and the unusual social phenotype.

Adolescent↗

Towards the neural basis for hypersociability in a genetic syndrome.

Williams syndrome (WMS), a rare disorder with a distinctive profile of medical, psychological, neurophysiological and neuroanatomical characteristics, results from hemizygous deletion of about 20 genes. The phenotype exhibits specific dissociations in higher cognitive functions: general cognitive deficits but spared linguistic abilities; extreme spatial cognitive deficits, but intact face processing. Of special interest is an unusual social phenotype in WMS: an overly friendly, engaging personality and excessive sociability with strangers. In this first experimental study of social behavior in WMS, we report that WMS subjects show an abnormal positive bias in their social judgments of unfamiliar individuals, consistent with their behavior in real life. Our findings contribute to an understanding of the neural and genetic bases of human social behavior.

Adult↗

Experimental social evolution with Myxococcus xanthus.

Genetically-based social behaviors are subject to evolutionary change in response to natural selection. Numerous microbial systems provide not only the opportunity to understand the genetic mechanisms underlying specific social interactions, but also to observe evolutionary changes in sociality over short time periods. Here we summarize experiments in which behaviors of the social bacterium Myxococcus xanthus changed extensively during evolutionary adaptation to two relatively asocial laboratory environments. M. xanthus moves cooperatively, exhibits cooperative multicellular development upon starvation and also appears to prey cooperatively on other bacteria. Replicate populations of M. xanthus were evolved in both structured (agar plate) and unstructured (liquid) environments that contained abundant resources. The importance of social cooperation for evolutionary fitness in these habitats was limited by the absence of positive selection for starvation-induced spore production or predatory efficiency. Evolved populations showed major losses in all measured categories of social proficiency- motility, predation, fruiting ability, and sporulation. Moreover, several evolved genotypes were observed to exploit the social behavior of their ancestral parent when mixed together during the developmental process. These experiments that resulted in both socially defective and socially exploitative genotypes demonstrate the power of laboratory selection experiments for studying social evolution at the microbial level. Results from additional selection experiments that place positive selection pressure on social phenotypes can be integrated with direct study of natural populations to increase our understanding of principles that underlie the evolution of microbial social behavior.

Biological Evolution↗

Hypolocomotion, anxiety and serotonin syndrome-like behavior contribute to the complex phenotype of serotonin transporter knockout mice.

Although mice with a targeted disruption of the serotonin transporter (SERT) have been studied extensively using various tests, their complex behavioral phenotype is not yet fully understood. Here we assess in detail the behavior of adult female SERT wild type (+/+), heterozygous (+/-) and knockout (-/-) mice on an isogenic C57BL/6J background subjected to a battery of behavioral paradigms. Overall, there were no differences in the ability to find food or a novel object, nest-building, self-grooming and its sequencing, and horizontal rod balancing, indicating unimpaired sensory functions, motor co-ordination and behavioral sequencing. In contrast, there were striking reductions in exploration and activity in novelty-based tests (novel object, sticky label and open field tests), accompanied by pronounced thigmotaxis, suggesting that combined hypolocomotion and anxiety (rather than purely anxiety) influence the SERT -/- behavioral phenotype. Social interaction behaviors were also markedly reduced. In addition, SERT -/- mice tended to move close to the ground, frequently displayed spontaneous Straub tail, tics, tremor and backward gait - a phenotype generally consistent with 'serotonin syndrome'-like behavior. In line with replicated evidence of much enhanced serotonin availability in SERT -/- mice, this serotonin syndrome-like state may represent a third factor contributing to their behavioral profile. An understanding of the emerging complexity of SERT -/- mouse behavior is crucial for a detailed dissection of their phenotype and for developing further neurobehavioral models using these mice.

Animals↗

Genetics of social behaviour in fire ants.

A recent study is the first to sequence a gene known to underlie a complex social phenotype. In the fire ant, Solenopsis invicta, a single allelic difference at the Gp-9 locus specifies the number of queens a colony has, and hence the social structure of the colony. Gp-9 appears to encode a protein implicated in chemical recognition of nestmates, consistent with workers determining queen number by selectively executing queens as a function of workers' and queens' Gp-9 genotypes. Other Solenopsis species exhibit the same social and genetic polymorphism. This study pioneers the integrated understanding of the evolution of social behaviour at molecular, individual and social levels.

Animals↗