Shared genetic effects of emotion and subcortical volumes in healthy adults.

Ample studies have reported a strong association between emotion and subcortical volumes; still, the underlying mechanism regarding this relation remains unclear. Using a twin design, the current study aimed to explore the intrinsic association between emotion and subcortical volumes by examining their phenotypic, genetic, and environmental correlations. We used a group dataset of 960 individuals from the Human Connectome Project (234 monozygotic twins, 145 dizygotic twins, 581 not twins, males = 454, age = 22-37 years). We found that both emotion and subcortical volumes were heritable. Of the 17 emotional traits, 13 were significantly phenotypically correlated with the volumes of multiple subcortical regions. There was no environmental correlation between emotion and subcortical volumes; however, we found a genetic overlap between overall emotional traits and caudate volume. Taken together, our results showed that emotion and subcortical volumes were heritable and closely related. Although the caudate has been often studied with execution of movement, given that the caudate volume is genetically associated with diverse emotional domains, such as negative affect, psychological well-being, and social relationships, it may suggest that the caudate volume might also be an important factor when studying the brain basis of emotion.

People Are Taller in Countries With Better Environmental Conditions.

Background: Height is considered an indicator of health and well-being of an individual and population. Height variation results from a complex interaction of genetic, environmental, socioeconomic, and cultural influences. In order to understand the contribution of environmental stress associated with the child's growth, we correlated indicators of a stressful environment with adult height. Methods: We utilized seven equally weighted indicators of a stressful environment: homicide rates, GDP per capita, income inequality (GINI index), corruption perception index (CPI), unemployment rate, urban air pollution, and life expectancy (LE). Data on male and female height by country from 1992 to 1996 were obtained from the NCD Risk Factor Collaboration dataset. We assessed separately data from the 31 member countries of the Organization for Economic Co-operation and Development (OECD). In order to establish whether the indicators reflected a single conceptual dimension, we conducted an exploratory analysis and principal component analysis (PCA) with orthogonal transformation of the original variables. The relationships between male and female heights and the z-transformed principal components: Quality of life (QoL) and the Social factor (SF) that were derived after the PCA was assessed. Results: Male and female heights strongly correlated (p < 0.0001) with each of the seven indicators. In the PCA, the indicators clustered into "Quality of Life" factors (QoL), which comprised the CPI, GDP, air pollution, LE, and "Social factors" (SF), which comprised homicide rate and GINI index. For males and females, the average height by country strongly correlated with QoL (p < 0.0001) and SF (p < 0.0001). Within OECD countries, male and female height strongly and negatively correlated with the SF, but not with QoL. Conclusion: Growth attenuation is a tradeoff adaptive response: a calorie used for growth cannot be used for fighting stress. Here we show that: (1) Adult height, when used as a measure of child's growth, is an indicator of a stressful environment in context with the genetic background and spatial factors; (2) Stressful QoL factors and the SF exert a greater effect on men's height than women's height; and (3) The ranking of the indicators of short stature are income inequality > air pollution > GDP > CPI > homicide rate > LE > unemployment.

Twin studies of subjective sleep quality and sleep duration, and their behavioral correlates: Systematic review and meta-analysis of heritability estimates.

Twin studies have shown that a substantial proportion of the variance for sleep variables is due to genetic factors. However, there is still considerable heterogeneity among research reports. Our main objectives were to: 1) Review the twin literature regarding sleep quality and duration, as well as their behavioural correlates; 2) Estimate the mean heritability of subjective sleep quality and sleep duration; 3) Assess heterogeneity among studies on these topics; and 4) Search for moderator variables. Two parallel meta-analyses were carried out for sleep quality and sleep duration. Seventeen articles were included in the meta-analysis. Mean MZ correlations were consistently higher than DZ correlations. A mean heritability of 0.31 (95% CI: 0.20, 0.41) was found for subjective sleep quality (range: 0-0.43) and 0.38 (95% CI: 0.16, 0.56) for sleep duration (range: 0-1). Heterogeneity indexes were significant for both sleep quality (I2 = 98.77, p < .001) and sleep duration (I2 = 99.73, p < .001). The high heterogeneity warrants further research considering possible moderators that may affect heritability.

Exploring the drivers of population structure across desert snakes can help to link micro and macroevolution.

To understand the underlying mechanisms generating population genetic divergence and structure is a critical step towards understanding how biodiversity evolves at both micro- and macroevolutionary scales. At the population-level, geographic isolation as well as adaptation to local environmental conditions can generate different patterns of spatial genetic variation among populations. Specific organismal traits as well as the characteristics of the environment might influence the process under which populations become spatially structured. In a From the Cover article in this issue of Molecular Ecology, Myers et al. (2019) present an integrative approach to investigate if the Cochise filter barrier (CFB), lying between the Sonoran and Chihuahuan Deserts, and the surrounding river networks were relevant in driving the population structure of 13 snake species. While local environmental conditions seem to predominantly contribute to lineage divergence, traditionally studied vicariant barriers seem to have played a minor role in shaping population structure across the studied species. This study brings insights into how population-level processes could contribute to the formation of incipient species, which ultimately might affect the speciation rates measured at macroevolutionary scales. Hence, Myers et al. (2019) not only represents an integrative study aiming to understand the drivers of population genetic divergence, but also a potentially important contribution to our ongoing challenge in linking micro- and macroevolution.

Environmental heterogeneity and not vicariant biogeographic barriers generate community-wide population structure in desert-adapted snakes.

Genetic structure can be influenced by local adaptation to environmental heterogeneity and biogeographic barriers, resulting in discrete population clusters. Geographic distance among populations, however, can result in continuous clines of genetic divergence that appear as structured populations. Here, we evaluate the relevant importance of these three factors over a landscape characterized by environmental heterogeneity and the presence of a hypothesized biogeographic barrier in producing population genetic structure within 13 codistributed snake species using a genomic data set. We demonstrate that geographic distance and environmental heterogeneity across western North America contribute to population genomic divergence. Surprisingly, landscape features long thought to contribute to biogeographic barriers play little role in divergence community wide. Our results suggest that isolation by environment is the most important contributor to genomic divergence. Furthermore, we show that models of population clustering that incorporate spatial information consistently outperform nonspatial models, demonstrating the importance of considering geographic distances in population clustering. We argue that environmental and geographic distances as drivers of community-wide divergence should be explored before assuming the role of biogeographic barriers.

Offspring genetic effects on maternal care.

Parental care is found widely across animal taxa and is manifest in a range of behaviours from basic provisioning in cockroaches to highly complex behaviours seen in mammals. The evolution of parental care is viewed as the outcome of an evolutionary cost/benefit trade-off between investing in current and future offspring, leading to the selection of traits in offspring that influence parental behaviour. Thus, level and quality of parental care are affected by both parental and offspring genetic differences that directly and indirectly influence parental care behaviour. While significant research effort has gone into understanding how parental genomes affect parental, and mostly maternal, behaviour, few studies have investigated how offspring genomes affect parental care. In this review, we bring together recent findings across different fields focussing on the mechanism and genetics of offspring effects on maternal care in mammals.

Reconsidering the Meaning of Concepts in Biology: Why Distinctions Are So Important.

Concepts have a central and important place in science, therefore, it is important that their meanings are always made clear. However, such clarity does not always exist, even in the case of such fundamental biological concepts as "gene" and "adaptation." A quick look at textbooks reveals that different meanings may be attributed to the same concept, even within the same textbook, without explicitly discussing the differences of those meanings. This can be misleading, and mask important conceptual differences. Therefore, the differences between the various meanings of the same concept should be discussed and explained in order for conceptual understanding to be achieved.

Understanding the cognitive and genetic underpinnings of procrastination: Evidence for shared genetic influences with goal management and executive function abilities.

Previous research has suggested that individual differences in procrastination are tied to everyday goal-management abilities, but little research has been conducted on specific cognitive abilities that may underlie tendencies for procrastination, such as executive functions (EFs). In this study, we used behavioral genetics methodology to investigate 2 hypotheses about the relationships between procrastination and EF ability: (a) that procrastination is negatively correlated with general EF ability, and (b) that this relationship is due to the genetic components of procrastination that are most related to other everyday goal-management abilities. The results confirmed both of these hypotheses. Procrastination was related to worse general EF ability at both the phenotypic and genetic levels, and this relationship was due to the component of procrastination shared with self-report measures of everyday goal-management failures. These results were observed even after controlling for potential self-report biases stemming from the urge to respond in a socially desirable manner. Together, these findings provide strong evidence for growing theories of procrastination emphasizing the importance of goal-related cognitive abilities and further highlight important genetic influences that underlie procrastination.

[Genetic and epigenetic news in gerontology].

The overview represents the recent most conspicuous findings in aging studies. It includes new data on the whole genome association studies (GWAS) in big cohort of centenaries, recently found mutation protecting from Alzheimer disease, discovery of hypothalamus as a command center of human aging, very important data on the negative effect of common antioxidants in the treatment of lung cancer as well as new data concerning antiaging and anticancer effects of common drugs such as rapamycine and metformin. Substantial part of the review is devoted to the epigenetic problems of senescence and feasible impact of basic epigenetic mechanisms (methylation of DNA and histone proteins, DNA heterochromatization) in regulation of gene expression, long-term genome reprogramming during early childhood, and transgeneration transmission of epigenetic traits. The necessity of transition from molecular studies of dormant human genome (anatomy of human genome) to genome in action (dynamic genome) and thus with special emphasis to epigenetic medicine is stressed.

Genetic programs controlling cortical interneuron fate.

The origins of cortical interneurons in rodents have been localized to the embryonic subcortical telencephalon where distinct neuroepithelial precursors generate defined interneuron subsets. A swathe of research activity aimed at identifying molecular determinants of subtype identity has uncovered a number of transcription factors that function at different stages of interneuron development. Pathways that lead to the acquisition of mature interneuron traits are therefore beginning to emerge. As genetic programs are influenced by external factors the search continues not only into genetic determinants but also extrinsic influences and the interplay between the two in cell fate specification.

[RTEL1 (regulator of telomere elongation helicase 1), a DNA helicase essential for genome stability]. / RTEL1, une hélicase de l'ADN essentielle à la stabilité du génome.

RTEL1 (regulator of telomere length helicase 1) is a DNA helicase that has been identified more than 10 years ago. Many works since, mainly in the nematode Caenorhabditis elegans and the mouse, have highlighted its role in chromosomal stability, maintenance of telomere length, and DNA repair. Recently, four laboratories have characterized RTEL1 mutations in patients with dyskeratosis congenita (DC) and Hoyeraal-Hreidarsson (HH) syndrome, a rare and severe variant of DC. We here summarize the current knowledge on RTEL1 and discuss the possible other functions that RTEL1 could play.

Genetic and environmental influences of daily and intra-individual variation in testosterone levels in middle-aged men.

BACKGROUND: Testosterone regulates numerous physiological processes, and evidence suggests that it plays a critical role in male aging. It has yet to be determined whether the heritability of testosterone varies in accordance with its diurnal rhythm. Similarly, it is unclear whether changes in testosterone level throughout the day are genetically influenced. The aim of the present study was to determine the degree to which genetic and environmental factors contribute to individual differences in testosterone throughout the day in middle-aged men. METHODS: Saliva-based measures of free testosterone, sampled at multiple time-points both at-home and in-lab, were collected from 783 male twins (193 monozygotic pairs, 196 dizygotic pairs, 5 unpaired twins) as part of the Vietnam Era Twin Study of Aging (VETSA). The average age of participants was 55.9 years (SD=2.6). RESULTS: Testosterone levels declined substantially over the course of the day, with 32-39% of the change occurring in the first 30min after waking. Heritability estimates for specific time-points ranged from .02 to .39. The heritability of the average at-home and in-lab testosterone values were notably higher (.42 and .47 respectively). Daily rates of change showed some evidence of genetic influence, with heritability estimates ranging from .15 to .29, whereas there were no observable genetic influences on coefficients of variation. CONCLUSIONS: Genetic influences account for a significant proportion of the variance in average testosterone levels, while environmental factors account for the majority of intra-individual variability. These results highlight the need to explore both genetic and individual-specific environmental factors as determinants of free testosterone levels in aging men.

Communication theory and multicellular biology.

In this Perspective, we propose that communication theory--a field of mathematics concerned with the problems of signal transmission, reception and processing--provides a new quantitative lens for investigating multicellular biology, ancient and modern. What underpins the cohesive organisation and collective behaviour of multicellular ecosystems such as microbial colonies and communities (microbiomes) and multicellular organisms such as plants and animals, whether built of simple tissue layers (sponges) or of complex differentiated cells arranged in tissues and organs (members of the 35 or so phyla of the subkingdom Metazoa)? How do mammalian tissues and organs develop, maintain their architecture, become subverted in disease, and decline with age? How did single-celled organisms coalesce to produce many-celled forms that evolved and diversified into the varied multicellular organisms in existence today? Some answers can be found in the blueprints or recipes encoded in (epi)genomes, yet others lie in the generic physical properties of biological matter such as the ability of cell aggregates to attain a certain complexity in size, shape, and pattern. We suggest that Lasswell's maxim "Who says what to whom in what channel with what effect" provides a foundation for understanding not only the emergence and evolution of multicellularity, but also the assembly and sculpting of multicellular ecosystems and many-celled structures, whether of natural or human-engineered origin. We explore how the abstraction of communication theory as an organising principle for multicellular biology could be realised. We highlight the inherent ability of communication theory to be blind to molecular and/or genetic mechanisms. We describe selected applications that analyse the physics of communication and use energy efficiency as a central tenet. Whilst communication theory has and could contribute to understanding a myriad of problems in biology, investigations of multicellular biology could, in turn, lead to advances in communication theory, especially in the still immature field of network information theory.

What is a species? Essences and generation.

Arguments against essentialism in biology rely strongly on a claim that modern biology abandoned Aristotle's notion of a species as a class of necessary and sufficient properties. However, neither his theory of essentialism, nor his logical definition of species and genus (eidos and genos) play much of a role in biological research and taxonomy, including his own. The objections to natural kinds thinking by early twentieth century biologists wrestling with the new genetics overlooked the fact that species have typical developmental cycles and most have a large shared genetic component. These are the "what-it-is-to-be" members of that species. An intrinsic biological essentialism does not commit us to Aristotelian notions, nor even modern notions, of essence. There is a long-standing definition of "species" and its precursor notions that goes back to the Greeks, and which Darwin and pretty well all biologists since him share, that I call the Generative Conception of Species. It relies on there being a shared generative power that makes progeny resemble parents. The "what-it-is-to-be" a member of that species is that developmental type, mistakes in development notwithstanding. Moreover, such "essences" have always been understood to include deviations from the type. Finally, I shall examine some implications of the collapse of the narrative about essences in biology.

La artrosis como enfermedad genética / Osteoarthritis as a genetic condition

La artrosis es un ejemplo de enfermedad compleja, que se origina por la interacción de factores genéticos y ambientales. En este trabajo revisamos los diferentes tipos de estudios que permiten analizar la contribución de los factores genéticos a la patogenia de las enfermedades complejas y los genes cuyos polimorfismos se han relacionado con el riesgo de desarrollar artrosis.Dado el importante beneficio que aporta la cirugía a los pacientes con artrosis avanzada, cabría plantearse si estos estudios genéticos tienen realmente alguna utilidad. La respuesta es claramente afirmativa. Por un lado, el conocimiento de los factores genéticos implicados en la aparición y el desarrollo de la artrosis puede permitir identificar y controlar subgrupos de individuos de mayor riesgo en fases precoces. Por otro lado, la identificación de los genes involucrados puede llevar a determinar nuevas dianas terapéuticas que permitan frenar de manera eficaz el desarrollo del proceso, algo que no podemos ofrecer a nuestros pacientes en la actualidad(AU)

Osteoarthritis is an example of a complex disease, which arises from the interaction of genetic and environmental factors. In this paper we review the different types of studies that can be conducted in order to analyze the contribution of genetic factors to the pathogenesis of complex diseases as well as the genes whose polymorphisms have been associated to the risk of developing osteoarthritis.The significant benefits that surgery can offer patients with advanced-stage osteoarthritis beg the question of whether there genetic studies are really of any use. The answer is clearly in the affirmative. On the one hand, an awareness of the genetic factors involved in the onset and development of osteoarthritis may help identify and control subgroups of individuals who are at a higher risk at an early stage. Furthermore, identification of the genes involves could help discover new therapeutic targets that may lead to effectively halting the process, which is something we cannot do with our patients at present(AU)

A fenomenologia como fundamentação para o movimento humano significativo / La fenomenología como fundamentación a el movimiento humano significativo / The phenomenology as the embasement to the significative human movement

O trabalho, teórico e qualitativo, investiga a argumentação que a fenomenologia proporciona para o entendimento do movimento humano como significativo. Usa como base o pensamento fenomenológico de Edmund Husserl e Merleau Ponty. A visão fenomenológica do movimento humano propõe que o sujeito seja o ator de seu movimento próprio e não apenas um objeto que recebe ordens para imitar padrões de movimento preestabelecidos. O movimento deve ser entendido como um diálogo entre homem e mundo. Manifesta-se como gesto criativo, com possibilidade de conhecer e transformar o mundo e deve orientar o trabalho na educação física, para que esta consiga recuperar seu real sentido no processo educacional.

Our work had as the main problematic, to investigate about the theoretical argumentation that the phenomenology proportions to the understanding of the human movement as significant. This theoretical and qualitative work had as basis Edmund Husserl’s and Merleau Ponty’s phenomenological thoughts. The phenomenological vision of the human movement proposes that the subject is his/her own movement author rather than just an object that receives orders to imitate patterns of pre-established movements. The movement must be understood as a dialogue between the human being and the world where the human being understands the world through the action. This dialogical movement is expressive and communicative which manifests itself in a creative gesture with the possibility to know and transform the world. This understanding of the human movement must orient the work in the Physical Education so that it can recuperate its real sense and meaning in the educational process.

Nuestro trabajo tenía como cañería problemática, investigar en la discusión teórica que el fenomenologia proporciona para el acuerdo del movimiento humano como significativo. Este trabajo teórico y cualitativo tenía como base que el fenomenológico pensó en Edmundo Husserl y Merleau Ponty. La visión del fenomenológica del movimiento humano considera que el ciudadano es el agente de su movimiento apropiado y no sólo de un objeto que reciba órdenes para imitar estándares de la precolocación del movimiento. El movimiento debe ser entendido como diálogo entre el hombre y el mundo, donde el ser humano entiende el mundo para la acción. Este movimiento del dialógico es expresivo y comunicativo que si es manifesto como gesto creativo, con la posibilidad para saber la transformación del mundo. Este acuerdo del movimiento humano debe dirigir el trabajo en la ducación física, de modo que este obtenga para recuperar su verdadero y significado sensibles en el proceso educativo.

Enfermedades de base genética / Genetically based diseases

La genética constituye uno de los mayores avancescientíficos del siglo XX, que comienza con el redescubrimientode las leyes de Mendel y termina con la elaboracióndel primer “borrador” de la secuencia completadel genoma humano. La genética utiliza diferentesestrategias de investigación, como los estudios degemelos y de adopción, que investigan la influencia delos factores genéticos y ambientales, y las estrategiaspara identificar genes específicos (genética molecular).Además del importante grado de discapacidad quegeneran, el impacto social de las enfermedades hereditariases enorme, por su carácter potencialmente recurrenteen una misma familia y por el elevado costesocio-sanitario derivado de la enorme carga de cuidadosque requiere. El diagnóstico de las enfermedadeshereditarias presenta características diferenciadorasmuy significativas ya que el resultado de un diagnósticogenético tiene no sólo efectos sobre el paciente sinotambién sobre todos los individuos emparentados. Portanto, la unidad de estudio en el diagnóstico genéticoes la familia y todo proceso de diagnóstico implica unainvestigación familiar. También conviene tener en cuentaque los protocolos de diagnóstico se desarrollan deforma paralela a la investigación básica y generalmenteestán poco estandarizados. Los resultados obtenidosen los estudios genéticos y el tipo de información quese facilita al paciente y a su familia deben ser matizadosdentro del proceso del “consejo genético”

Genetics is one of the greatest scientific advancesof the XX century, which begins with the rediscovery ofMendel’s laws and culminates in the elaboration of thefirst “draft” of the complete sequence of the humangenome. Genetics employs different researchstrategies, such as the study of twins and adoption,investigating the influence of genetic andenvironmental factors, and strategies for identifyingspecific genes (molecular genetics). Besides thesignificant degree of disability they generate, the socialimpact of hereditary diseases is enormous, due to theirpotentially recurrent character in the same family andthe high socio-health cost deriving from the enormouscare burden they require. The diagnosis of hereditarydiseases presents very significant differentiatingcharacteristics since the result of a genetic diagnosishas effects not only on the patient but also on relatedindividuals. Thus the unit of study in genetic diagnosisis the family and the whole process of diagnosisinvolves family research. It is also useful to bear inmind that the protocols of diagnosis are developed inparallel with the basic research and in general arehardly standardised. The results obtained in geneticstudies and the type of information provided to thepatient and his family must be qualified within theprocess of “genetic counselling”

[The behavioral-neuroendocrine mechanism of development of homosexuality].

In this review, we primarily focus on the behavioral-neuroendocrine mechanism of development of homosexuality from genetic, neuroendocrine neuroanatomical and behavioral studies. Besides the influence of genetics and environment, sexual orientation was determined by the early perinatal hormone exposure. Gonadal steroidal hormone interacted with many neurotransmitters in individual development by hypothalamus pituitary adrenal axis and hypothalamus pituitary gonadal axis, which regulated the individual's sexual orientation. It was summarized here about the future directions on sexual orientation and demonstrated problems which would have to investigate next step. All these may be beneficial for our understanding of the homosexuality and paying attention to psychological and physiological health of homosexuality, which is useful to prevent the development of teenage homosexuality.