Using mostly prospective menstrual data from mothers and daughters in the Tremin Trust Menstrual Reproductive History Program, this study produces the first estimates of the genetic correlation between the ages of menarche and menopause. I carried out two separate analyses. Standard regression analysis of 21 mother/daughter dyads with natural menopause yielded a nonsignificant negative mean genetic correlation of r A =−0.139±1.268. Survival analysis/maximum likelihood estimation on a dataset which included an additional 85 dyads with censored observations on daughters (...) yielded a nonsignificant positive genetic correlation of r A =0.613±0.587. Although a substantial non-zero correlation cannot be ruled out, these estimates suggest there is no genetic correlation between menarche and menopause, in agreement with previous phenotypic findings. As inconclusive as they may be, these estimates also contribute to our understanding of the nature of selection working on the reproductive life span of human females. (shrink)

Generalization of the standard behavior longitudinal genetic factor model for the analysis of interindividual phenotypic variation to a genetic state space model for the analysis of intraindividual variation enables the possibility to estimate subject-specific heritabilities.

Four questions are raised about Mealey's genetic argument: (1) Where is the evidence that secondary sociopathy is less heritable than primary sociopathy? (2) What is the genetic correlation between the two types of sociopathy? (3) How does genotype-environment interaction relate? (4) How strong are the links between our evolutionary past and current heritability?

Executive functions (EFs) and impulsivity are dimensions of self-regulation that are both related to psychopathology. However, self-report measures of impulsivity and laboratory EF tasks typically display small correlations, and existing research indicates that impulsivity and EFs may tap separate aspects of self-regulation that independently statistically predict psychopathology in adulthood. However, relationships between EFs, impulsivity, and psychopathology may be different in childhood compared to adulthood. Here, we examine whether these patterns hold in the baseline assessment of the Adolescent Brain and (...) Cognitive Development (ABCD) sample, a national sample of over 11,000 children (including 749 twin pairs) ages 9–10 years. We examine the phenotypic and genetic relationships among latent variables for different components of EFs and multiple facets of impulsivity. Additionally, we assess how EFs and impulsivity relate to composite measures and latent variables of psychopathology derived from parent report. EFs were weakly correlated with impulsivity, and the strength varied by impulsivity facet, emphasizing their separability. We did not identify significant genetic and environmental correlations between EFs and impulsivity. Moreover, controlling for their small relationships with each other, both EFs and some facets of impulsivity statistically predicted an Externalizing factor, attention problems, and social problems, and twin analyses suggested these relationships were genetic in origin. These findings indicate that EFs and impulsivity represent phenotypically and genetically separable aspects of self-regulation that are both transdiagnostic correlates of psychopathology in childhood. (shrink)

In theory, observed correlations between genetic information and behaviour might be useful to members of the WEIRD (western, educated, industrialized, rich, and democratic) populations. Guiding young people to choose educational opportunities that best match their abilities would benefit both the individual and society. In practice, however, such choices are far more profoundly limited by the culture people have inherited than their genes.

Identifying causal relations from correlational data is a fundamental challenge in personality psychology. In most cases, random assignment is not feasible, leaving observational studies as the primary methodological tool. Here, we document several techniques from behavior genetics that attempt to demonstrate causality. Although no one method is conclusive at ruling out all possible confounds, combining techniques can triangulate on causal relations. Behavior genetic tools leverage information gained by sampling pairs of individuals with assumed genetic and environmental relatedness or (...) by measuring genetic variants in unrelated individuals. These designs can find evidence consistent with causality, while simultaneously providing strong controls against common confounds. We conclude by discussing several potential problems that may limit the utility of these techniques when applied to personality. Ultimately, genetically informative designs can aid in drawing causal conclusions from correlational studies. (shrink)

While heredity is predominantly controlled by what deoxyribonucleic acid (DNA) sequences are passed from parents to their offspring, a small but growing number of traits have been shown to be regulated in part by the non‐genetic inheritance of information. Transgenerational epigenetic inheritance is defined as heritable information passed from parents to their offspring without changing the DNA sequence. Work of the past seven decades has transitioned what was previously viewed as rare phenomenology, into well‐established paradigms by which numerous traits (...) can be modulated. For the most part, studies in model organisms have correlated transgenerational epigenetic inheritance phenotypes with changes in epigenetic modifications. The next steps for this field will entail transitioning from correlative studies to causal ones. Here, we delineate the major molecules that have been implicated in transgenerational epigenetic inheritance in both mammalian and non‐mammalian models, speculate on additional molecules that could be involved, and highlight some of the tools which might help transition this field from correlation to causation. (shrink)

Basic quantitative genetic models of human behavioral variation have made clear that individual differences in behavior cannot be understood without acknowledging the importance of genetic influences. Yet these basic models estimate average, population-level genetic and environmental influences, obscuring differences that might exist within the population and masking systematic transactions between specific genetic and environmental influences. This article discusses a newer, more sophisticated and powerful quantitative genetic model that articulates these transactions. Results from this model highlight (...) the ways in which the gene- environment interaction and correlation are intertwined. They can be used to integrate findings from quantitative and molecular genetic studies and to understand the roles of genetic influences and social forces in manifested behaviors, even when DNA sequence variation is not relevant. (PsycINFO Database Record (c) 2016 APA, all rights reserved). (shrink)

Rice is a staple food in China, and, thus, its security has drawn much attention. The Chinese government proactively fuels the application of biotechnology in agriculture and food to cope with increasingly severe food security issues. However, most consumers resist the commercialization of genetically modified rice. One of the important reasons is the consumer perception of its various risks. Conversely, trust in the government, scientists, and media can stimulate consumer purchase. On the basis of the dual perspectives of perceived risks (...) and trust, this study establishes a model of purchase intention for GM rice to explore the structural relationship between variables. Perceived risks explore how exclusion can weaken the purchase intention from the consumer perspective; trust examines the benefits that support can provide. Based on the structural equation model, online survey results of 564 consumers in eight provinces and cities are analyzed. The following observations are offered: health risks, moral risks, and purchase intention are negatively correlated; environmental, functional, and economic risks have no significant correlation with purchase intention; and trust and purchase intention have a significant positive correlation. (shrink)

This paper outlines a critique of the use of the genetic variance–covariance matrix (G), one of the central concepts in the modern study of natural selection and evolution. Specifically, I argue that for both conceptual and empirical reasons, studies of G cannot be used to elucidate so-called constraints on natural selection, nor can they be employed to detect or to measure past selection in natural populations – contrary to what assumed by most practicing biologists. I suggest that the search (...) for a general solution to the difficult problem of identifying causal structures given observed correlation’s has led evolutionary quantitative geneticists to substitute statistical modeling for the more difficult, but much more valuable, job of teasing apart the many possible causes underlying the action of natural selection. Hence, the entire evolutionary quantitative genetics research program may be in need of a fundamental reconsideration of its goals and how they correspond to the array of mathematical and experimental techniques normally employed by its practitioners. (shrink)

During the postpartum period, the paternal brain suffers extensive and complex neurobiological alterations, through the experience of father–infant interactions. Although the impact of such experience in the mother has been increasingly studied over the past years, less is known about the neurobiological correlates of fatherhood—that is, the alterations in the brain and other physiological systems associated with the experience of fatherhood. With the present study, we aimed to perform a scoping review of the available literature on the genetic, neuroendocrine, (...) and brain correlates of fatherhood and identify the main gaps in the current knowledge. PubMed, Scopus, and Web of Science electronic databases were searched for eligible studies on paternal neuroplasticity during the postpartum period, over the past 15 years. Reference lists of relevant key studies and reviews were also hand-searched. The research team independently screened the identified studies based on the established inclusion criteria. Extracted data were analyzed using tables and descriptive synthesis. Among the 29 studies that met our inclusion criteria, the vast majority pertained to neuroendocrine correlates of fatherhood, followed by brain activity or connectivity, association studies of candidate genes, and brain structure correlates. Collectively, studies published during the past 15 years suggest the existence of significant endocrine and neurofunctional alterations as a result of fatherhood, as well as preliminary evidence of genetic variability accounting for individual differences during the postpartum period in fathers. No studies were so far published evaluating epigenetic mechanisms associated with the paternal brain, something that was also the focus of the current review. We highlight the need for further research that examines neuroplasticity during the experience of fatherhood and that considers both the interplay between hormones and simultaneous assessment of the different biomarkers ; data collection protocols and assessment times should also be refined. (shrink)

Dissociation is commonly regarded as a disruption in the normally integrated functions of memory, knowledge, affect, sensation or behavior. The present study utilized behavioral genetics’ methodology to investigate genetic and environmental basis of the relationship between dissociation and Cloninger’s temperament and character traits. A sample of 83 monozygotic and 65 dizygotic twins were administered self-report measures which assessed dissociative experiences along with personality dimensions. Significant correlations and high loads of common genetic variance between dissociative experiences and personality (...) traits of novelty seeking, self-directedness, cooperativeness and self-transcendence were identified. Heritability of dissociative experiences was estimated at 62%. The study shows that there exists a considerable amount of genetic variance overlap between dissociation and personality dimensions. It also supports the hypothesis that propensity to dissociate is highly heritable. (shrink)

Current technology has dramatically increased the prevalence of studies to establish the genetic correlates of a wide variety of human characteristics, including not only the physical attributes that determine what we look like and the risk of physiological disease but also the psychological and cognitive characteristics that often define who we are as individuals. Perhaps one of the most deeply personal and often controversial characteristics is the concept of general intelligence, known in the psychological literature as “g.” As with (...) the genetic study of any complex trait, the first step in studying the genetics of g is to carefully define the characteristic of interest. For g, this entails establishing what intelligence means and providing a clear operational definition for how it will be measured. In this paper, we provide a brief historical and theoretical overview of the construct of general intelligence, describe its relationship to the contemporary measurement of intelligence, and discuss these concepts in light of the challenges associated with defining g as a characteristic in the study of genetics. (shrink)

The problem of the origin of life understandably counts as one of the most exciting questions in the natural sciences, but in spite of almost endless speculation on this subject, it is still far from its final solution. The complexity of the functional correlation between recent nucleic acids and proteins can e.g. give rise to the assumption that the genetic code (and life) could not originate on the Earth. It was Portelli (1975) who published the hypothesis that the (...) class='Hi'>genetic code could not originate during the history of the Earth. In his opinion the recent genetic code represents the informational message transmitted by living systems of the previous cycle of the Universe. Here however, we defend the existence of a certain strategy in the syntheses of the genetic code during the history of the Earth. The strategy of correlation between amino acid and nucleotide polymers made an increasing velocity of the chemical evolution possible, that is, it increased the velocity of formation of the genetic code. Thus, life with the recent genetic code could originate on the Earth within the present cycle of the Universe. (shrink)

Sexual selection provides an adequate partial explanation for the difference in means between the distributions, but fails to explain the difference in variance, that is, the overrepresentation of both boys with outstanding mathematical reasoning ability and boys with mental retardation. Other genetic factors are probably at work. While spatial ability is correlated with OMRA, so are other cognitive abilities. OMRA is not reducible to spatial ability; hence selection for navigational skill is unlikely to be the only mechanism by which (...) males have gained an advantage in OMRA. (shrink)

Given the rise of genetic etiological beliefs regarding psychiatric disorders, a growing body of research has focused on trying to elucidate the effects that such explanatory frameworks might be having on how mental disorders are perceived by patients, clinicians, and the general public. Genetic and other biomedical explanations of mental disorders have long been seen as a potential tool in the efforts to destigmatize mental disorders, given the harshness of the widespread negative attitudes about them and the important (...) negative clinical and social impacts of this stigma. The conventional wisdom has appeared to be that because the effects of genes are seen as falling outside individual control, conceiving of mental disorders as caused by genes casts patients as blameless, thereby reducing stigmatization. Indeed, the results of experimental and correlational research have now robustly linked genetic and other biomedical explanations for mental disorders with reductions in the extent to which people are blamed for their psychiatric symptoms. However, research examining the impact of genetic and other biomedical explanations of mental disorders has also suggested that they can have significant downsides. The most consistently observed negative effect of these kinds of explanations is that they can apparently lead to the assumption that mental disorders are unlikely to improve or abate. Genetic and other biomedical explanations of mental disorders can also increase people’s confidence in the effectiveness of biomedical treatments (such as pharmacotherapy) but decrease their confidence in the effectiveness of “nonbiomedical” treatments (such as psychotherapy). (shrink)

A consideration of the genetics of sociopathy suggests the following. The author's Evolutionary Stable Strategy (ESS) types 2 to 4 are more likely than types 1 and 5 in crimes of violence, and there may not be an ESS for crimes of property or for sociopathy. Correlations between sociopathy and crimes of property are also more likely due to environmental than to genetic variants, and correlations between sociopathy and crimes of property are due more to environmental than (...) genetic variants. (shrink)

In popular articles that play down the genetical differences among human populations, it is often stated that about 85% of the total genetical variation is due to individual differences within populations and only 15% to differences between populations or ethnic groups. It has therefore been proposed that the division of Homo sapiens into these groups is not justified by the genetic data. This conclusion, due to R.C. Lewontin in 1972, is unwarranted because the argument ignores the fact that most (...) of the information that distinguishes populations is hidden in the correlation structure of the data and not simply in the variation of the individual factors. The underlying logic, which was discussed in the early years of the last century, is here discussed using a simple genetical example. (shrink)

In this paper, we examine Shaun Gallagher’s project of “naturalizing” phenomenology with the cognitive sciences: front-loaded phenomenology. While we think it is a productive proposal, we argue that Gallagher does not employ genetic phenomenological methods in his execution of FLP. We show that without such methods, FLP’s attempt to locate neurological correlates of conscious experience is not yet adequate. We demonstrate this by analyzing Gallagher’s critique of cognitive neuropsychologist Christopher Frith’s functional explanation of schizophrenic symptoms. In “constraining” Gallagher’s FLP (...) program, we discuss what genetic phenomenological method is and why FLP ought to embrace it. We also indicate what types of structures a genetically modified FLP will consider, and how such an approach would affect the manner in which potential neurological correlates of conscious experience are conceptually understood and experimentally investigated. (shrink)

Alterations to cognitive function are often reported with depression and anxiety symptoms, yet few studies have examined the same associations with mental well-being. This study examined the association between mental well-being, depression and anxiety symptoms and cognitive function in 1502 healthy adult monozygotic and dizygotic twins, and the shared/unique contribution of genetic and environmental variance. Using linear mixed models, mental well-being was positively associated with sustained attention, inhibition, cognitive flexibility, motor coordination and working memory, whereas depression and anxiety symptoms (...) were associated with poorer sustained attention, inhibition, cognitive flexibility and executive function. Bivariate twin modelling showed well-being shared a small environmental correlation with motor coordination and a small genetic correlation with working memory. Trivariate twin modelling showed well-being shared a small genetic correlation with inhibition, whereas depression and anxiety symptoms shared a small environmental correlation with inhibition. The remaining variance was mostly driven by unique G and/or E variance. Overall, well-being and depression and anxiety symptoms show both independent and shared relationships with cognitive functions but this is largely attributable to unique G or E variance and small shared G/E variance between pairs of variables. (shrink)

Purpose Human genomic research demands very large pools of data to generate meaningful inference. Yet, the sharing of one’s genetic data for research is a voluntary act. The collection of data sufficient to fuel rapid advancement is contingent on individuals’ willingness to share. Privacy risks associated with sharing this unique and intensely personal data are significant. Genetic data are an unambiguous identifier. Public linkage of donor to their genetic data could reveal predisposition to diseases, behaviors, paternity, heredity, (...) intelligence, etc. The purpose of this paper is to understand individuals’ willingness to volunteer their private information in this high-risk/high-reward context. Design/methodology/approach The authors collect survey data from 273 respondents and use structural equation modeling techniques to analyze responses. Findings The authors find statistical support for our theorization. They find that while heightened awareness of the benefits and risks of sharing correlates with increased privacy concerns, the net impact is an increase in intention to share. Social implications The findings suggest that prescriptive awareness might be an effective tool with which policy-makers can gain the sufficient voluntary participation from individuals necessary to drive large-scale medical research. Originality/value This study contributes a theoretically and empirically informed model which demonstrates the impact of awareness and privacy concern on individuals’ willingness to share their genetic data for large-scale HGR. It helps inform a rising class of data sufficiency problems related to large-scale medical research. (shrink)

Whakapapa is the foundation of traditional Māori social structure and it perpetuates a value base that locates people through their relationships to the physical and spiritual worlds. As part of a new envirogenomics research programme, researchers at the Institute of Environmental Science and Research (ESR) are developing a study with an iwi (tribe) to identify combinations of genetic and environmental factors that may contribute to current health status. A major objective of this study is to utilise whakapapa (genealogical information) (...) to explore patterns of genetic variation unique to the iwi and to correlate these with potential disease or ill health. Genetic testing and screening raises numerous ethical issues, particularly when indigenous peoples are the subjects. This paper will outline ESR’s strategy for addressing indigenous concerns about genetic testing and how whakapapa forms an integral part of the envirogenomics research programme. (shrink)

Rose seems to be arguing against an extreme ultra-Darwinism that probably has no adherents. He incorrectly argues that a number of psychological traits are very difficult to measure. This is not the case. Rose argues that intelligence has no biological correlates. In fact, it is correlated with brain size, EEG evoked potentials, and cerebral glucose uptake during problem solving. Data that Rose should be aware of are omitted when they do not fit the case he is trying to make.

Arguably, no psychological variable has received more attention from behavioral geneticists than what has been called “general cognitive ability” (as well as “general intelligence” or “g”), and for good reason. GCA has a rich correlational network, implying that it may play an important role in multiple domains of functioning. GCA is highly correlated with various indicators of educational attainment, yet its predictive utility is not limited to academic achievement. It is also correlated with work performance, navigating the complexities of everyday (...) life, the absence of various social pathologies (such as criminal convictions), and even health and mortality. Although the causal basis for these associations is not always known, it is nonetheless the case that research on GCA has the potential to provide insights into the origins of a wide range of important social outcomes. In this essay, our discussion of why GCA is considered a fundamentally important dimension of behavior on which humans differ is followed by a look at behavioral genetics research on CGA. We summarize behavioral genetics research that has sought to identify and quantify the total contributions of genetic and environmental factors to individual differences in GCA as well as molecular genetic research that has sought to identify genetic variants that underlie inherited effects. (shrink)

In lieu of an abstract, here is a brief excerpt of the content:Dialectical Tension Between Gloomy and Rosy Prospects of Behavioral GeneticsAwais Aftab, MD (bio)Turkheimer and Greer’s article “Spit for Science and the Limits of Applied Psychiatric Genetics” (2024) offers a devastating critique of the state of psychiatric genetics, using Spit for Science (S4S) as a case study. I have read the paper many times in the process of writing this commentary, and each time I am left inarticulate. Nonetheless, I (...) hope that my comments, from the point of view of a practitioner who operates at the intersection of clinical psychiatry, psychiatric science, and philosophy of psychiatry, will be of some value to the discussion. I have no substantial disagreements with Turkheimer and Greer. The main point I wish to convey is that there is reason to hope that findings from genetic research will contribute to clinical progress in psychiatry in an incremental and iterative manner, but because psychiatric genetics has overpromised and underdelivered, we find ourselves vacillating between bullish and bearish moods.Some critics may say that the choice to selectively focus on S4S is unfair, or that it gives a misleading impression of the current state of psychiatric genetics. The launch and implementation of S4S captures a particular moment in the history of psychiatric genetics when it was known that individual associations will be small and that large samples will be needed for significant associations, but it was not appreciated exactly how small and how large respectively. Initial estimates of sample sizes needed for successful genetic associations turned out to be wildly inadequate. Progress occurred only with unprecedented international collaboration and extremely large sample sizes. For example, a 2022 genome-wide association study (GWAS) of schizophrenia included more than 76,000 people with schizophrenia and 240,000 controls (Trubetskoy et al., 2022)! S4S is one project from one institution. It is understandable in retrospect that a sample of 10,000 freshmen could only have delivered so much. It may be argued that whatever the promise of psychiatric genetics as a field, it is not constrained by the success or failure of S4S.On the one hand, it is true that S4S did not have the requisite sample size. On the other hand, the contemporary understanding of the genetics of alcohol use has not improved on insights from S4S by that much (Deak et al., 2019). SNP-based heritability estimate of problematic alcohol use [End Page 451] is close to 10% based on a GWAS of 435,000 individuals (Zhou et al., 2020), consistent with statistically non-significant estimates from S4S. The same GWAS has identified 29 risk variants, and genetic correlations with more than a hundred other phenotypes. Transcriptomic analysis has revealed that implicated genes are expressed in the brain but also in gastrointestinal, adipose, and liver tissue, pointing toward pathways of protection and vulnerability. A polygenic risk score (PRS) derived from associated variants is consistently and significantly associated with alcohol dependence, with variance explained ranging from 0.77% to 2.12% in different samples (Zhou et al., 2020).At present, PRS for problematic alcohol use has little predictive value at the individual level and is practically worthless from the standpoint of clinical practice. There are hints that genetic associations can point toward brain mechanisms involved in alcohol use disorder, but we have little to show for it yet. That PRS will achieve clinical utility is not guaranteed but neither is it impossible. A PRS for externalizing behavior explains approximately 10% of the variance, which is on par with factors such as socioeconomic status and neighborhood disadvantage (Karlsson Linnér et al., 2021). And even if PRS does not become a common part of clinical practice, it can still be a useful tool in clinical research. With regard to understanding mechanisms, the trivial effect size of the genetic association is by itself irrelevant. This point is made eloquently by Steven HymanWhen used as a tool to associate a trait with biology, the effect size of the allele on the ultimate phenotype does not matter… what makes a gene product a good drug target is not the effect size of the associated allele, but its overall role in biology… Once a pathway is shown to... (shrink)

SummaryAggarwal Baniyas were found to have a high prevalence of high blood pressure. Genetic and environmental influences may be implicated for this risk factor of cardiovascular disease. The aim of this study was to investigate the potential for common genetic and environmental influences on blood pressure measures ). The population-based sample was comprised of 309 Aggarwal Baniya families, including 1214 individuals from New Delhi, India. The prevalence of obesity in this community was found to be high. Correlation and (...) heritability were estimated. Most sibling–sibling correlations were larger than the parent–offspring correlations, and all parent–offspring and sibling–sibling correlations were larger than the corresponding spouse correlation. The maximum heritability was estimated as 44.6% for SBP and 62.8% for DBP. The lack of a significant spouse correlation is consistent with little or no influence of the common familial environment. However, the high heritability estimate for both SBP and DBPs reinforces the importance of the non-shared environmental effect. (shrink)

It is often claimed there is information in some biological entity or process, most especially in genes. Genetic “information” refers to distinct notions, either of concrete properties of molecular bonds and catalysis, in which case it is little more than a periphrasis for correlation and causal relations between physical biological objects (molecules), or of abstract properties, in which case it is mind-dependent. When information plays a causal role, nothing is added to the account by calling it “information”. In short, (...) if genetic information is concrete, it is causality. If it is abstract, it is in the head. (shrink)

Complex diseases involve both a genetic component and a response to environmental factors or lifestyle changes. Recently, genome-wide association studies (GWAS) have succeeded in identifying hundreds of polymorphisms that are statistically associated with complex diseases. However, the association is usually weak and none of the associated allelic forms is either necessary or sufficient for the disease occurrence. We argue that this promotes a network view, centred on functional redundancy. We adapted reliability theory to the concerned sub-network, modelled as a (...) parallel array of functional modules. In our model, as long as one module remains active, the function correlated with the respective disease is ensured and disease does not occur. Genetic factors reduce the initial number of available modules while environment, contingent surroundings, personal history, epigenetics, and some intrinsic stochasticity influence their persistence time. This model reproduces age-specific incidence curves and explains the influence of environmental changes. It offers a new paradigm, according to which disease occurs due to a lack of functional elements, depending on many idiosyncratic factors. Genetic risk assessed from GWAS is only a statistical notion with no direct interpretation at the individual level. However, genomic profiling could be useful at population level in devising models to guide decisions in health care policy. (shrink)

Aaron Antonovsky, the medical sociologist, defined the sense of coherence as a pervasive sense that the events in one’s life are comprehensible, manageable, and meaningful or worthwhile. Research on the sense of coherence indicates that it is positively correlated with resilience and adaptive coping with disabilities and illnesses. The collection of first–person narratives published in Narrative Inquiry in Bioethics on genetic testing can be understood as expressions of the human effort to restore or sustain a sense of coherence in (...) the face of illness, uncertainty, or even curiosity about one’s origins and future wellbeing. While the medical usefulness of the genetic testing that was discussed in the collection of narratives was often modest, the contribution of testing to the sense of coherence was often greater. Understanding the sense of coherence as a possible motive for genetic testing might reshape the way that we conceive of the benefits and the burdens of genetic testing and the disclosure of incidental findings. (shrink)

Male white-rumped munias sing syntactically simpler songs than their domestic counterparts, Bengalese finches. The differences in song structure may reflect differences in natural selection pressures between wild and domestic environments. Deacon proposed song simplicity of the wild strain could be subject to natural selection. We hypothesized the selection pressure may be species identification. Thus, we compared song variations in relation to ecological factors and dispersal history of white-rumped munias to understand song evolutionary processes. We found geographic variations of song syntactical (...) complexity. The difference of song syntactical complexity did not corresponded to genetic distance, but did to that of the proportion of mixed flocks with sympatric related species. Birds that inhabited the areas with more mixed flocks sang simpler songs. The song complexity might be constrained to intensify distinct conspecific signals from related species. Our field work provided empirical evidence supporting a proposal made by Deacon. Keywords: birdsong; evolution; masking hypothesis; Bengalese finches; song geographic variation; genetic variation. (shrink)

Diseases causing inherited retinal degeneration in humans, such as retinitis pigmentosa and macular dystrophy, are genetically heterogeneous and clinically diverse. More than 40 genes causing retinal degeneration have been mapped to specific chromosomal sites; of these, at least 10 have been cloned and characterized. Mutations in two proteins, rhodopsin and peripherin/RDS, account for approximately 35% of all cases of autosomal dominant retinitis pigmentosa and a lesser fraction of other retinal conditions. This target article reviews the genes and mutations causing retinal (...) degeneration and proposes mechanisms whereby specific mutations lead to particular clinical consequences, that is, the relationship between genotype and phenotype. Retinitis pigmentosa and macular dystrophy are genetically heterogeneous diseases that cause retinal degeneration in humans and often result in severe visual impairment or blindness. Although many of the genes causing these diseases have not been identified, three photoreceptor-specific proteins have been implicated: rhodopsin, peripherin/RDS, and the P-subunit of rod phosphodiesterase. Mutations in the genes for these three proteins can cause either dominant retinitis pigmentosa, recessive retinitis pigmentosa, dominant congenital stationary night blindness, or dominant macular degeneration. Why this multiplicity of clinical phenotypes? Our target article summarizes the genetic and biochemical background to this question and proposes a number of possible explanations. Discussion focuses mainly on 73 distinct disease-causing mutations of rhodopsin. We feel that rhodopsin and other photoreceptor proteins can serve as model systems for unraveling the connection between genotype and phenotype, not only for inherited retinal diseases but for other degenerative disorders as well. (shrink)

Large scale DNA-mutation screening in patients with hereditary retinal diseases greatly enhances our knowledge about retinal function and diseases. Scientists, clinicians, patients, and families involved with retinal disorders may directly benefit from these developments. However, certain aspects of this expanding knowledge, such as the correlation between genotype and phenotype, may be much more complicated than we expect at present.

As genetic and genomic research has progressed since the sequencing of the human genome, scientists have continued to struggle to understand the role of genetic and socio-cultural factors in racial and ethnic health disparities. Recognition that race and ethnicity correlate imperfectly with differences in allele frequency, environmental exposures, and significant health outcomes has made framing the relationship between genetic variation, race, ethnicity, and disease one of the most heated debates of the genome era. Because racial and ethnic (...) identities reflect a complicated mix of social and genetic factors, critics have argued that use of racial and ethnic categories as analytical variables in biomedical research lacks rigor, leads to potentially dangerous stereotyping in medical practice, and sends harmful messages of innate racial difference to the broader public.Concerns over the current lack of diversity in human genetic and genomic studies have developed in parallel to discussions of the appropriate use of racial and ethnic categories during the research process. (shrink)

Four sequential, sub-processes are identified as the fundamental steps in the processing of signals by big-brained animals. These are, Detection of the signal, its Representation in correlated sensory brain structure, the Interpretation of the signal in another part of the brain and the Expression of the receiver’s response. We label this four-step spatiotemporal process DRIE. We support the view that when the context within which such signals are produced and received is relatively constant, the DRIE process can be ultimately assimilated (...) into the genome, with the Interpretation sub-phase is markedly decreased in duration as speed and efficiency are maximized. With frequent repetition and learning, an analogous result can be attained epigenetically as exemplified in human word and text recognition, allowing tasks critical to primate social function to be accomplished with rapidity and accuracy. (shrink)

Parents influence the development of their offspring in many ways beyond the transmission of DNA. This includes transfer of epigenetic states, nutrients, antibodies and hormones, and behavioural interactions after birth. While the evolutionary consequences of such nongenetic inheritance are increasingly well understood, less is known about how inheritance mechanisms evolve. Here, we present a simple but versatile model to explore the adaptive evolution of non-genetic inheritance. Our model is based on a switch mechanism that produces alternative phenotypes in response (...) to different inputs, including genes and non-genetic factors transmitted from parents and the environment experienced during development. This framework shows how genetic and non-genetic inheritance mechanisms and environmental conditions can act as cues by carrying correlational information about future selective conditions. Differential use of these cues is manifested as different degrees of genetic, parental or environmental morph determination. We use this framework to evaluate the conditions favouring non-genetic inheritance, as opposed to genetic determination of phenotype or within-generation plasticity, by applying it to two putative examples of adaptive non-genetic inheritance: maternal effects on seed germination in plants and transgenerational phase shift in desert locusts. Our simulation models show how the adaptive value of non-genetic inheritance depends on its mechanism, the pace of environmental change, and life history characteristics. (shrink)

Genetics was established on a strict particulate conception of heredity. Genetic linkage, the deviation from independent segregation of Mendelian factors, was conceived as a function of the material allocation of the factors to the chromosomes, rather than to the multiple effects (pleiotropy) of discrete factors. Although linkage maps were abstractions they provided strong support for the chromosomal theory of inheritance. Direct Cytogenetic evidence was scarce until X-ray induced major chromosomal rearrangements allowed direct correlation of genetic and cytological rearrangements. (...) Only with the discovery of the polytenic giant chromosomes in Drosophila larvae in the 1930s were the virtual maps backed up by physical maps of the genetic loci. Genetic linkage became a pivotal experimental tool for the examination of the integration of genetic functions in development and in evolution. Genetic mapping has remained a hallmark of genetic analysis. The location of genes in DNA is a modern extension of the notion of genetic linkage. (shrink)

An assessment is offered of the recent debate on information in the philosophy of biology, and an analysis is provided of the notion of information as applied in scientific practice in molecular genetics. In particular, this paper deals with the dependence of basic generalizations of molecular biology, above all the ‘central dogma’, on the so-called ‘informational talk’ (Maynard Smith [2000a]). It is argued that talk of information in the ‘central dogma’ can be reduced to causal claims. In that respect, the (...) primary aim of the paper is to consider a solution to the major difficulty of the causal interpretation of genetic information: how to distinguish the privileged causal role assigned to nucleic acids, DNA in particular, in the processes of replication and protein production. A close reading is proposed of Francis H. C. Crick's On Protein Synthesis (1958) and related works, to which we owe the first explicit definition of information within the scientific practice of molecular biology. Introduction 1.1 The basic questions of the information debate 1.2 The causal interpretation (CI) of biological information and Crick's ‘central dogma’ Crick's definitions of genetic information The main requirement for (CI) Types of causation in molecular biology 4.1 Structural causation in molecular biology 4.2 Nucleic acids as correlative causal factors The ‘central dogma’ without the notion of information Concluding remarks This is a new version of this article as there were errors in the abstract and full text in the previous version. (shrink)

Despite its uniform appearance, the cerebellar cortex is highly heterogeneous in terms of structure, genetics and physiology. Purkinje cells (PCs), the principal and sole output neurons of the cerebellar cortex, can be categorized into multiple populations that differentially express molecular markers and display distinctive physiological features. Such features include action potential rate, but also their propensity for synaptic and intrinsic plasticity. However, the precise molecular and genetic factors that correlate with the differential physiological properties of PCs remain elusive. In (...) this article, we provide a detailed overview of the cellular mechanisms that regulate PC activity and plasticity. We further perform a pathway analysis to highlight how molecular characteristics of specific PC populations may influence their physiology and plasticity mechanisms. (shrink)

At this point in time, it is hard to say which consequences for the concept of mental illness result from modern genetics. Current research projects are trying to find significant statistical correlations between the diagnosis of a disease and a gene locus or an endophenotype. Up until now, there has not been any identification of alleles or mutations causing mental illness. In the meantime, the relations between the genetic basis and the disease are given the term genetic (...) vulnerability as a placeholder; this concept simplifies the complex relations between the DNA and even the simplest cell functions observed in modern genetics. According to complex gene models like the systemic theory of DNA, it will not be possible to identify the genetic factors without a precise knowledge of the factors which modulate the gene expression. The significance of genetics as part of the concept of mental illness will not be able to be defined without further progress in developmental biology and psychology. Currently, psychological theory fails to acknowledge the complexity of the relationship between the DNA and the environment. Some starting points from which to develop such an understanding can be received from developmental studies and studies of the psychophylogenesis . An interdisciplinary concept of the biological basis of the psyche is needed. (shrink)

RESUMO Este artigo discute a divisão do trabalho científico entre pesquisadores seniores e juniores em um centro de pesquisa brasileiro de genética humana e médica. Partindo do debate contemporâneo sobre a progressiva imbricação entre ciência e tecnologia - com progressiva fusão entre ambas, que evoca noções como a de tecnociência - é possível verificar, na subárea específica, velocidades crescentes na produção de dados, que pressionam os pesquisadores de maneiras distintas, seja pelo crescente custo das inovações tecnológicas, seja pela necessidade de (...) métodos mais complexos para a análise. Nesse contexto, analiso questões relativas à especialização do trabalho científico, à separação entre concepção e execução, e às transformações correlatas na formação de novos pesquisadores. Parte-se do pressuposto teórico-metodológico de que a atividade científica não pode ser tratada de forma homogênea, existindo configurações distintas de acordo com o espaço disciplinar, a organização institucional e a tradição científica local, entendida enquanto empreendimento historicamente enraizado e social e culturalmente contingente. ABSTRACT The article discusses the division of scientific labour among senior and junior researchers in a Brazilian research center for human and medical genetics. Starting with the contemporary debate on the progressive intertwining of science and technology - with progressive fusion of both, evoking notions such as technoscience - it is possible to verify, in this specific subarea, rising speed in data production that pressure scientists in different manners: through the rising cost of technological innovations and through the necessity for more complex methods of analysis. In this context I analyze issues concerning the specialization of scientific work, the separation between conception and execution as well as correlate changes in the formation of new researchers. The theoretical-methodological pressupposition is that scientific activity cannot be treated in a homogeneous way, and that there exist distinct configurations according to the disciplinary space, the institucional organization and local scientific tradition, understood as a historically rooted and socially and culturally contingent undertaking. (shrink)

The production of genetically modified crops is growing around the world, and with it possible opportunities to combat food insecurity and hunger, as well as solutions to current problems facing conventional agriculture. In this regard the use of GMOs in food and agricultural applications has increased greatly over the past decade. However, the development of GM crops has been a matter of considerable interest and worldwide public controversy. This, in addition to skepticism, has stifled the use of this practice on (...) a large scale in many areas, including Iran. It stands to reason that a greater understanding of this practice could be formed after a review of the existing expert opinions surrounding GM crops. Therefore, the purpose of this study was to analyze the predictors that influence agricultural experts’ attitudes toward the development of and policies related to GM crops. Using a descriptive correlational research method, questionnaire data was collected from 65 experts from the Agricultural Organization in the Gotvand district in Southwest Iran. Results indicated that agricultural experts were aware of the environmental benefits and possible risks associated with GM crops. The majority of participants agreed that GM crops could improve food security and accelerate rural development, and were proponents of labeling practices for GM crops. Finally, there was a positive correlation between the perception of benefits and attitudes towards GM crops. (shrink)

Lee McIntyre’s Respecting Truth chronicles the contemporary challenges regarding the relationship amongst evidence, belief formation and ideology. The discussion in his book focusses on the ‘politicisation of knowledge’ and the purportedly growing public (and sometimes academic) tendency to choose to believe what is determined by prior ideological commitments rather than what is determined by evidence-based reasoning. In considering these issues, McIntyre posits that the claim “race is a myth” is founded on a political ideology rather than on support from scientific (...) evidence. He contrasts this view with the argument that racially correlated biomedical outcomes for self-identified racial groups suggest that biological races are real. I explore how McIntyre’s framing of the claim “race is a myth” as fundamentally ideological results in him failing to engage with the arguments and evidence many constructionists and biological anti-realists put forward in support of their views. I also show how the biomedical evidence he thinks supports biological realism is unconvincing. (shrink)

Previous studies investigating attitudes to genetically modified (GM) foods suggest a correlation between negative attitudes and low levels of science education, both of which are associated with women. In a qualitative focus group study of Australian women with diverse levels of education, we found attitudes to GM foods were part of a complex process of making “good” food decisions, which included other factors such as locally produced, fresh/natural, healthy and nutritious, and convenient. Women involved in GM crop development and those (...) with health science training differed in how they used evidence to categorize GM foods. Our findings contribute to a deeper understanding of how GM food, and the role of science and technology in food production and consumption more broadly, is understood and discussed amongst diverse “publics” and across different “sciences,” and to research related to deepening public engagement at the intersection of science and values. (shrink)

The irreversibility in time, the multicausality on lines, and the uncertainty of feedbacks make economic systems and the predictions of economic chaotic time series possess the characteristics of high dimensionalities, multiconstraints, and complex nonlinearities. Based on genetic algorithm and fuzzy rules, the chaotic genetics combined with fuzzy decision-making can use simple, fast, and flexible means to complete the goals of automation and intelligence that are difficult to traditional predicting algorithms. Moreover, the new combined method’s ergodicity can perform nonrepetitive searches (...) in a global scope, hence improving the algorithm’s accuracy and efficiency. On the basis of summarizing and analyzing previous research works, this paper expounded the research status and significance of the prediction of economic chaotic time series, elaborated the development background, current status, and future challenges of the combined algorithm of chaotic genetics with fuzzy decision, introduced the basic principles of chaotic genetic algorithm and fuzzy decision algorithm, constructed a prediction model for economic chaotic time series, performed parameter synchronization optimization and moderate function construction, analyzed the prediction processes of economic chaotic time series, conducted phase space reconstruction and correlation dimension calculation, and finally carried out a simulation experiment with its result analysis. The study results show that the algorithm of chaotic genetics combined with fuzzy decision-making can dynamically adjust chaotic mutation operators and summarize fussy expert experiences. The phase space of its reconstructed chaotic attractor has high-precision predictability and can find orderly processes from changeable economic results, which in turn can be used to analyze and predict the complex economic chaotic time series. The study results of this paper provide a reference for further research on predictive analysis of economic chaotic time series based on chaotic genetics combined with fuzzy decision algorithm. (shrink)

The last decade has seen a dramatic increase in interest in the extent to which morphological evolution depends on changes in regulatory pathways. Insects provide a fertile ground for study because of their diversity and our high level of understanding of the genetic regulation of development in Drosophila melanogaster. However, comparable genetic approaches are presently possible in only a small number of non‐Drosophilid insects. In a recent paper, Hughes and Kaufman(1) have used a new methodology, RNA interference, in (...) the milkweed bug, Oncopeltus fasciatus, to phenocopy the effects of mutations in Hox genes. RNA interference involves the injection of double‐stranded RNA of the same sequence as the relevant mRNA resulting in a depletion of that transcript.(2) Hughes and Kaufman focused on the gnathal segments, which elaborate specialized appendages important to feeding. Their results indicate that gnathal adaptations in this bug are correlated with changes in Hox gene functions and interactions. BioEssays 23:379–382, 2001. © 2001 John Wiley & Sons, Inc. (shrink)

Argument about the ethical possibility of the therapeutic use of embryonic stem cells depends critically on the evaluation of the moral status of the very early embryo. Some assert that at the blastocyst stage it is only potentially human, not yet possessing the full ethical status of personhood, while others assert that from its formation the embryo possesses all the moral rights of a human person. It is shown that a decision on this issue is closely related to how human (...) nature is to be understood. The idea of a person as a dual combination of body and spirit correlates naturally with the assertion of absolute personhood from conception, while an idea of human psychosomatic unity encourages a development picture in which the embryo only grows gradually into personhood. The latter view is seen to be encouraged by new advances in science which emphasise the importance of the concept of information in the discussion of complex systems. Other ethical issues related to human genetics are also briefly reviewed. (shrink)