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PubMed1985

X chromosome abnormalities and cognitive development: implications for understanding normal human development.

Recent advances in the biological sciences have offered new opportunities to identify biological contributions as they interact with social experience to help determine psychological development. The role of biological factors is more easily demonstrated in subhuman species in which extensive experimental manipulations of variables are possible. One strategy for the study of human behaviour genetics has been the systematic analysis of behaviour in individuals with naturally occurring X chromosome variations. The aim has been to demonstrate whether or not the range of expected variability in particular areas of behavioural development was narrowed by the specific genotypic abnormality. The knowledge obtained from these studies can be applied meaningfully to enhance our understanding about human behavioural development in chromosomally unaffected individuals.

Auditory Perception↗
PubMed1999

Female distribution, genetic relatedness, and fostering behaviour in harbour seals, Phoca vitulina.

Although harbour seals may not recognize their relatives, relatives could be chosen preferentially for fostering (i.e. kin selection) if harbour seals display natal philopatry coupled with breeding site fidelity, and thus kin are clustered within the colony. We used behavioural and genetic data to investigate population structure within the Sable Island breeding colony and to test whether harbour seals tend to foster related pups. Adult females on Sable Island showed a high level of breeding-colony site fidelity but low levels of within-colony site fidelity both within and between years. Similarly, although lactating females showed a clumped distribution, group composition was highly variable, suggesting that this study colony was not composed of groups of related animals. DNA fingerprint data supported the hypothesis that female distribution within the colony was not correlated with genetic relatedness. Furthermore, the mean DNA band sharing among foster dyads did not differ significantly from that for unrelated animals. These results indicate that among harbour seals, related pups are not usually chosen preferentially for fostering and hence, kin selection is not likely to be influencing the occurrence of this behaviour. Copyright 1999 The Association for the Study of Animal Behaviour.

Journal Article↗
PubMed2001

Oligodendrogliomas: clinical and genetic correlations.

Oligodendrogliomas, once obscure, are now recognized as a relatively common form of primary brain tumour, and are among the most chemosensitive of all solid human malignancies. New histopathological, molecular, and genetic information has, for the first time, allowed the distinction of several subtypes of human glioma with predictable biological and clinical behaviour. Genetic markers are emerging as useful not only for the diagnosis of oligodendroglioma, but also as specific predictors of both the response to treatment and prolonged survival. This review will focus upon the past year of advances in the area of clinical-molecular genetic predictors of glioma behaviour and highlight the importance of these advances in everyday clinical practice.

Antineoplastic Agents↗
PubMed1985

A microcomputer method for recording and analysing behavioural elements.

The trend in ethology, psychopharmacology and behaviour genetics is to get increasingly higher resolution of the behaviour of animals, since it increases the sensitivity of the tests used. Consequently the higher resolution requires an increased data-logging efficiency, and a decreased time-investment for data handling. In this paper a method for inexpensive microcomputers is presented, which enables an individual experimenter to obtain frequency, relative duration and its variance from as many behavioural elements as desired.

Animals↗
PubMed2001

Genetic analysis of autonomic reactivity to psychologically stressful situations.

We present the results of a behavioural genetics study on response profiles of autonomic measures (heart rate, blood pressure, and galvanic skin level), under ecologically valid, stressful conditions. Where response profiles of different physiological variables are the object of study, and when daily life stressors are taken into account (Turner and Hewitt, Annals of Behavioral Medicine, 14 (1992) 12-20), autonomic responsiveness to psychological stressors is thought to be an inherited trait. The participants were 100 female twin pairs, 57 monozygotic and 43 dizygotic twin pairs. Participants watched eight films with a stressful social content while autonomic measures were continuously recorded. Results show that the heritability coefficients of response profiles of autonomic measures are almost twice as high as that of single variables. The results further show that genes exert their influence on physiological behaviour not only directly, but also indirectly, by influencing the idiosyncratic relation between a person and his environment.

Adolescent↗
PubMed1997

Y-chromosome effects on Drosophila geotaxis interact with genetic or cytoplasmic background.

Previously, all of the major fruit fly, Drosophila melanogaster, chromosomes (I, II and III) have been shown to be associated with geotaxis, but the Y chromosome has not. Using two methods (back-crossing and chromosome substitution), Y chromosomes from lines that have evolved stable, extreme expressions of geotaxis were placed into different genetic and cytoplasmic backgrounds to test the resulting males for geotaxis. The results of the back-crossing do not support the interpretation of Y-chromosome effects on geotaxis. These tests do not have sufficient statistical power, however, to detect small genetic effects. In the chromosome substitution experiment, the geotaxis-line Y chromosomes were placed into high- and low-selected lines, Canton-S and Champaign wild-type backgrounds. The results of the chromosome substitution experiment provide evidence for a Y-chromosome effect on geotaxis in selected geotaxis lines, but not in wild-type stock, backgrounds. These results suggest that the Y chromosome has a small effect on geotaxis, whose detection depends on genetic and/or cytoplasmic background. The implications of these results are discussed for behaviour genetic analysis of D. melanogaster and for issues of statistical power in detecting small genetic effects.

Animals↗
PubMedDate not supplied

The role of genes in the etiology of specific language impairment.

UNLABELLED: Although specific language impairment (SLI) often runs in families, most pedigrees are not consistent with a single defective gene. Before progress can be made in molecular genetics, we need a better understanding of which aspects of SLI are heritable. Twin studies are useful in allowing us to distinguish genetic from environmental influences. This point is illustrated with a study in which twins were given tests of nonword repetition (regarded as an index of phonological short-term memory) and auditory processing. Children with SLI were impaired on both measures, but these deficits had different origins. Auditory processing problems showed no evidence of genetic influence, whereas the nonword repetition deficit was highly heritable. Future genetic studies of SLI may be most effective if they use measures of underlying cognitive processes, rather than relying on conventional psychometric definitions of disorder. LEARNING OUTCOMES: Information in this manuscript will serve to (1) equip readers with an elementary understanding of methods used in molecular genetic studies of language impairment; (2) familiarise readers with the logic of twin studies in behavioural genetics, using both categorical and quantitative methods; (3) illustrate the importance of phenotype definition for genetic research, and the usefulness of genetic methods in illuminating theoretical relationships between deficits associated with SLI; (4) show how genetically informative methods can be used to study environmental as well as genetic influences on impairment.

Alleles↗
PubMed2000

The quantitative and molecular genetics of human intelligence.

General cognitive ability or g as measured by IQ tests has been the most intensively studied trait in human behaviour genetics. Although there has been much debate about how best to describe and measure intelligence, this is addressed elsewhere in this volume and here I will assume that there is utility in the concept of general intelligence and review the data showing that, whatever it is, g is familial and influenced by genes. Next, I will briefly describe some of the main quantitative genetics models that have been used in trying to tease out the genetic and environmental sources of variation. Finally, I will outline current molecular genetic research aiming to locate and identify genes influencing human intelligence and try to predict the directions in which such research will lead.

Adolescent↗
PubMed1998

We're off to see the genome.

We discuss some societal and legal ramifications of the human genetics revolution. Our reflections were stimulated by discussions among scientists, citizens and legal experts at a large public symposium. We outline key issues regarding oversight of genetic research on human subjects, banking of DNA data by governments and corporations, the potential impact of behavioural genetics and effects upon racial and racist thinking. We contend that, in some cases, well-intentioned but naive efforts to protect the rights of individuals and groups may hurt everyone by blocking the progress of useful research.

Databases, Factual↗
PubMed2005

[Genetics contribution to the understanding of autism].

Autism is a pervasive developmental disorder characterised by an impairment in social interaction and in communication, with unusual behaviour. Genetic factors are predominent in autism pathogenesis, in contrast with the environmental factors that would modulate the phenotype. The genetic polymorphism and the phenotypic heterogeneity make the autism a complex disorder to study. Genetic research on families with multiple affected children and biochemical mechanisms studies represent the sources for identifying the susceptibility genes in autism.

Autistic Disorder↗
PubMed1998

Population genetics of inversion polymorphism in Drosophila ananassae.

Drosophila ananassae, although a cosmopolitan and domestic species, is largely circumtropical in distribution. It occupies unique status in the whole of genus Drosophila due to certain peculiarities in its genetical behaviour. The most unusual feature of this species is spontaneous male recombination in appreciable frequency. This species is of common occurrence in India. Population genetics of inversion polymorphism has been extensively studied in Indian D. ananassae in our laboratory. The main findings are: (i) Three cosmopolitan inversions namely AL in 2L, DE in 3L and ET in 3R are of frequent occurrence in Indian populations and have become coextensive with the species. (ii) Quantitative data on the frequency of three cosmopolitan inversions in 29 natural populations of D. ananassae suggest that there is a considerable degree of genetic divergence at the level of inversion polymorphism. In general, the populations from south India show more differentiation than those from the north. (iii) These three cosmopolitan inversions exhibit heterosis. Interracial hybridization does not lead to breakdown of heterosis, which suggests that evidence for coadaptation is lacking in geographic populations of D. ananassae. Heterosis appears to be simple luxuriance rather than populational heterosis (coadaptation). (iv) Data on intra- and interchromosomal associations in natural and laboratory populations of D. ananassae show that interchromosomal associations occur randomly indicating no interchromosomal interactions but two inversions of the third chromosome often show strong linkage disequilibria in laboratory populations which is due to epistatic interaction and suppression of crossing over. The role of genetic drift causing linkage disequilibria in isofemale strains of D. ananassae has also been suggested. (v) Mating ability of homo- and hetero-karyotypes due to subterminal (2L) inversion derived from natural populations of D. ananassae in which the frequency of different chromosome arrangements were known, was tested and the results indicate that the chromosome occurring in high frequency is associated with higher mating activity in all the populations analysed and heterokaryotypic males are superior in mating propensity to the corresponding homokaryotypes, indicating the existence of heterosis associated with the AL inversion with respect to male mating activity. Thus inversion polymorphism in D. ananassae may have a partial behavioural basis as has been demonstrated in other species of Drosophila.

Animals↗
PubMed1999

Molecular approaches towards the isolation of sleep-related genes.

Behavioural genetics is one of the most enticing fields in modern biology. Owing to straightforward and semiautomated techniques that can be used to measure locomotor activity, circadian rhythmicity is perhaps the best studied behaviour in animals. Thus, during the past decade, five essential circadian clock genes have been isolated in Drosophila, and homologous counterparts for all of these genes have also been found in mammals. As the sleep-wake cycle is under the control of the circadian clock, these circadian master genes are expected to influence sleeping behaviour. However, different vigilance states are regulated by additional mechanisms that also have a genetic basis. In this article we discuss molecular approaches that may prove useful in the search for sleep-related genes.

Animals↗
PubMed2000

Parents' and teachers' ratings of problem behaviours in children: genetic and contrast effects.

We obtained ratings on the Conners' scales from teachers (CTRS-28) and parents (CPRS-48) for 61 monozygotic and 64 dizygotic twin pairs, aged between 7 and 11 years. Model-fitting analyses were carried out to estimate the extent of genetic and environmental influences on problem behaviours, and to explore possible contrast effects in ratings by parents and teachers. Confirming previous findings with other measures, there was evidence of moderate to strong genetic effects on a range of problem behaviours. Parents' ratings on the Anxiety, Impulsive-Hyperactive and Learning Problem sub-scales showed significant evidence of contrast effects. There was no evidence of such rater bias or competitive sibling interaction effects in ratings by teachers, or in parents' ratings on the Conduct Problem and Psychosomatic sub-scales.

Analysis of Variance↗
PubMed1999

Natural selection and genetic differentiation of behaviour between parasitoids from wild and cultivated habitats

Differences in behaviour between individuals in populations living in different environments may result from evolution proceeding differently in each population. The parasitoid wasp Cotesia glomerata (L.) (Hymenoptera: Braconidae) parasitizes early instar larvae of butterflies in the family Pieridae. In the study area the only host of C. glomerata is the Small Cabbage White Butterfly [Pieris rapae (L.) (Lepidoptera: Pieridae)], which feeds on cruciferous host plants in a variety of habitats. The behaviour of this parasitoid wasp collected from two habitat types (wild and agricultural) was observed in a reciprocal transplant-style experiment in a greenhouse. Differences in behaviour between wasp sources and test habitat type were analysed using canonical analysis in multivariate analysis of variance. Directional selection on parasitoid behaviour in each test habitat type was estimated by regressing the relative rate of parasitism (a measure of relative fitness) on the behavioural character state. We found that there is genetic differentiation of behaviour between wasps from wild and cultivated habitats and that a different set of behaviours is associated with short-term fitness within models of each source habitat. There was no evidence of local adaptation of wasps to either habitat.

Journal Article↗
PubMed1997

Sound-induced seizures in serotonin 5-HT2c receptor mutant mice.

The epilepsies are a heterogeneous collection of seizure disorders with a lifetime expectancy risk rate of 2-4%. A convergence of evidence indicates that heritable factors contribute significantly to seizure susceptibility. Genetically epilepsy-prone rodent strains have been frequently used to examine the effect of genetic factors on seizure susceptibility. The most extensively studied of these have been strains that are susceptible to sound-induced convulsions (audiogenic seizures, or AGSs). Early observations of the AGS phenomenon were made in the laboratory of Dr. Ivan Pavlov; in the course of appetite-conditioning experiments in mice, the loud bell used to signal food presentation unexpectedly produced seizures in some animals. In 1947, DBA/2 (D2) mice were found to exhibit a genetic susceptibility to AGSs stimulated by a doorbell mounted in an iron tub. Since this discovery, AGSs have been among the most intensively studied phenotypes in behavioural genetics. Although several genetic loci confer susceptibility to AGSs, the corresponding genes have not been cloned. We report that null mutant mice lacking serotonin 5-HT2C receptors are extremely susceptible to AGSs. The onset of susceptibility is between two and three months of age, with complete penetrance in adult animals. AGS-induced immediate early gene expression indicates that AGSs are subcortical phenomena in auditory circuits. This AGS syndrome is the first produced by a known genetic defect; it provides a robust model for the examination of serotoninergic mechanisms in epilepsy.

Acoustic Stimulation↗
PubMed1988

[Population genetics study of functional brain asymmetry in the native and immigrant populations of northeastern USSR. I. Sex-age distribution and familial data].

Clearly definable polymorphism of hemisphere interrelations represented by three phenotypes was established by the method of EEG cross-correlation analysis. Each phenotype of the three, representing polymorphism, is characterized by marked specificity of perception and the processing of information, which determines certain integral physiological characteristics of individuals. Phenotype frequencies in aboriginal and new-come populations of the North-East of the USSR differ significantly. In comparison with the inhabitants, Moscow Russians of Magadan are significantly closer to aboriginal population, judging by their frequency distribution, and this may be due to the strategy specificity in adaptation of populations to environmental conditions. Significant difference in phenotype frequencies is shown in representatives of both sexes, this being more pronounced in the aboriginal population. The establishment of interhemispheric reaction type by approx. 10th year of individual's life is confirmed. Phenotype frequency correlations, depending on parental phenotype, were analyzed in children. The role of genetic and environmental factors in manifestation of the hemisphere relationship type is discussed. Rationality of the population analysis of hemisphere asymmetry types is grounded, according to the study of behavioural genetics and population adaptation.

Age Factors↗
PubMed2006

[Behavioural phenotypes in genetic mental retardation].

INTRODUCTION: Based on clinical and genetic knowledge about certain syndromes, in recent decades the concept of behavioural phenotypes has been developed in an attempt to deal with the complex relations between genes and behaviour. The model is not linear but rather each type of behaviour is determined by the interaction of different genes and modulated by environmental factors. DEVELOPMENT AND CONCLUSIONS: The aim of this review is to provide a global view concerning the concept of 'behavioural phenotypes' based on the description of the molecular mechanisms and clinical observations of some syndromes. There is clearly a need for geneticists, who work in a laboratory, and clinicians, who can offer qualitative and quantitative data about behaviour in certain genetic syndromes, to work in collaboration. For this reason this study describes the clinical instruments that make it possible to evaluate the core aspects of behaviour and hence undertake their scientific study in situations in which their genetic dysfunction is already known.

Behavior↗