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[Immigration of a pregnant female in an alpine marmot family group: behavioural and genetic data].

The acceptance of a pregnant female by the dominant male of a family group of alpine marmots (Marmota marmota) (population of La Grande Sassière, Parc national de la Vanoise, French Alps) was revealed by the combined results from microsatellite polymorphism analysis and behavioural studies. These first results seem to indicate that the mating system of the alpine marmot is more complex than previously thought, that polygyny cannot be excluded, and that adult females can join neighbouring groups. This acceptance would have been interpreted as an extra-pair fertilization if complete field data had not been available.

Animals↗

Neurobiology and genetics of behavioural syndromes of Alzheimer's disease.

The number of people with cognitive impairment is rising in parallel with changing demographics. As health care budgets are coming under increasing strain with regard to the provision of nursing care, there is a substantial need for effective therapies which encompass greater understanding of the components of dementia that finally necessitate admission to residential or nursing home care. Behavioural and psychological symptoms of dementia (BPSD) are major independent risk factors for admission to institutional care and research into the origin of BPSD is gathering pace. In this review, we evaluate the neurobiological and genetic changes described in individuals with BPSD in Alzheimer's disease. Particular emphasis is placed on genetic theories of causation, namely that BPSD results directly or indirectly from known genetic risk factors for AD, or distinct genetic risk factors for psychiatric illness assume clinical significance within the degenerated Alzheimer's brain.

Alzheimer Disease↗

Maintenance and inheritance of yeast prions.

The unusual genetic behaviour of two yeast extrachromosomal elements [PSI] and [URE3] is entirely consistent with a prion-like mechanism of inheritance involving an autocatalytic alteration in the conformation of a normal cellular protein. In the case of both yeast determinants the identity of the underlying cellular prion protein is known. The discovery that the molecular chaperone Hsp104 is essential for the establishment and maintenance of the [PSI] determinant provides an explanation for several aspects of the puzzling genetic behaviour of these determinants. What remains to be explained is whether these determinants represent 'disease states' of yeast or represent the first examples of a unique mechanism for producing a heritable change in phenotype without an underlying change in genotype.

Fungal Proteins↗

Host use evolution in Chrysochus milkweed beetles: evidence from behaviour, population genetics and phylogeny.

In two sister species of leaf beetles with overlapping host associations, Chrysochus auratus and C. cobaltinus, we established diet breadth and food preference of local populations for evaluation together with genetic differentiation between populations. While C. auratus turned out to be monophagous on the same plant wherever we collected the beetles, the studied populations of C. cobaltinus fed on three different plant species in the field. Plant preference and ranking of the potential host plants significantly differed between these populations. The amount of genetic differentiation between populations was measured by a polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) assay of a 1300 bp mitochondrial DNA (mtDNA) sequence. In addition, the dominant genotypes of all populations were sequenced. No genetic differentiation between the populations of C. auratus could be detected in the RFLP assay and sequence divergence was low (= 0.3%). In C. cobaltinus, on the other hand, genetic differentiation between populations was high, revealing a lack of gene flow over a much smaller scale and a maximum of 1.3% sequence divergence. C. cobaltinus thereby has the prerequisites for host race formation on different plants from the original host spectrum. Our sequence-based phylogeny estimate allows us to reconstruct historical diet evolution in Chrysochus. Starting from an original association with Asclepiadaceae, the common ancestor of C. auratus and C. cobaltinus included Apocynaceae in its diet. The strict specialization on Apocynum and the loss of acceptance of Asclepiadaceae observed in C. auratus could have resulted from a process similar to that displayed by C. cobaltinus populations.

Animals↗

Effects of neonatal screening for cystic fibrosis on reproduction, attitudes toward reproductive behaviour and genetic knowledge.

An evaluation was carried out into whether neonatal screening for Cystic Fibrosis could potentially prevent the birth of more affected children in the same family. Although CF was detected in more than 50% within the first year of life in those cases where a diagnosis was made on clinical symptoms, in these families 10 children -- among whom two with CF -- were born prior to the CF diagnosis. With neonatal screening, no pregnancies were started before the CF-diagnosis. No differences were found in attitudes toward further reproduction and understanding of important genetic facts. Although prenatal diagnosis was not yet possible at the time of the study, approximately 50% of the parents showed a positive attitude toward this option. Minimizing the delay in diagnosis by neonatal screening, together with the availability of prenatal diagnosis may lead to a significant reduction in subsequent births of CF cases.

Attitude to Health↗

Genetics of sexual behaviour in Drosophila.

The analysis of genetics of behaviour within and between species provides important clues about the forces shaping the evolution of behavioural genes. In Drosophila, a number of key processes such as emergence from the pupal case, locomotor activity, feeding, olfaction and aspects of mating behaviour are under circadian regulation. Genes controlling sexual behaviour are likely to control species specific differences in courtship that are involved in reproductive isolation of closely related species. Courtship in Drosophila is characterized by a series of stereotyped behaviours that lead to copulation and more than 30 genes have been identified through mutations that affect one or more of these elements. Although curiosity about behavioural differences between the sexes undoubtedly predates recorded history, little efforts have been made to uncover the molecular basis of male and female courtship. The brain and nervous system functions that underlie sex-specific behaviour are of obvious importance to all animals including humans. To understand behaviour related to sex it is important to distinguish those aspects that are controlled genetically. The isolation and analysis of Drosophila mutants with altered sexual orientation lead to the identification of novel branches in the sex-determination cascade, which govern the sexually dimorphic development of the nervous system.

Animals↗

Psychological mechanisms in hyperactivity: II. The role of genetic factors.

The main aim of this study was to combine two research approaches to hyperactivity: the behaviour genetic approach and the testing of psychological theories of hyperactivity. For a sample of 268 twin pairs aged 7-11 years we obtained ratings on the Conners' scales from both teachers (CTRS-28) and parents (CPRS-48). Forty-six hyperactive twin pairs (pairs in which at least one twin was pervasively hyperactive) and 47 control twin pairs were assessed on a psychological test battery. Confirming findings from previous twin studies, a substantial proportion of the variance in hyperactivity considered as a dimension was due to genetic effects. There was significant evidence of genetic effects also on extreme hyperactivity, although the present group heritability estimates were somewhat lower than those reported in most previous studies. We investigated the possibility that the psychological mechanisms we reported to be associated with hyperactivity (Kuntsi, Oosterlaan, & Stevenson, 2001) share common genetic factors with hyperactive behaviour. The data produced significant evidence of such shared genetic effects only on hyperactivity and the variability of reaction times. Given that the high variability in speed of responding would indicate a state-regulation problem, this is the psychological mechanism that could possibly be the "link" between genetic effects and hyperactive behaviour.

Attention Deficit Disorder with Hyperactivity↗

The genetic architecture of behavioural responses to novelty in mice.

The genetic architectures of 12 behavioural variables measured in adult male mice placed in a novel environment were analysed in a replicated 4 X 4 diallel cross. The results were combined with those obtained in a classical cross involving two of the four strains. Based on the hypothesis of an evolutionary history of stabilising selection for mouse exploratory behaviour, we expected additive genetic effects and ambidirectional dominance. Such genetic architectures were actually found for those exploratory behaviours where epistatic effects were of minor importance. Similar findings emerged for some non-exploratory phenotypes. All behaviours analysed appeared to be polygenically controlled.

Animals↗

Genetic contributions to continuity, change, and co-occurrence of antisocial and depressive symptoms in adolescence.

In adolescence, antisocial and depressive symptoms are moderately stable and modestly correlated with each other. We examined the genetic and environmental origins of the stability and change of antisocial and depressive symptoms and their co-occurrence cross-sectionally and longitudinally in a national sample of 405 adolescents. Monozygotic (MZ) and dizygotic (DZ) twins and full, half, and unrelated siblings 10-18 years of age from non-divorced and step-families were studied over a 3-year period. Composite measures of adolescent self-reports, parent reports, and observational measures of antisocial and depressive symptoms were analysed in multivariate behavioural genetic models. Results indicated that the majority of the stability in and co-occurrence between dimensions could be accounted for by genetic factors. Non-shared environmental risks and, for antisocial symptoms, shared environmental risks also contributed to the stability. Genetic influences on change were observed, but only for antisocial behaviour. In addition, the longitudinal association between antisocial behavioural and later depressive symptoms was also found to be genetically mediated, but this effect was nonsignificant after controlling for stability. Results were discussed in light of the potential contributions of development behavioural genetic research in understanding individual differences in the stability and change of maladjustment.

Adolescent↗

Medical ethics in the 21st century.

OBJECTIVES: To foresee how medical ethics may develop in the 21st century. DESIGN: We have looked into our crystal ball to see what factors are likely to drive medical ethics over the next few decades. We have given examples of how such factors might affect specific issues. RESULTS: Those factors that we identified as likely to shape the future of medical ethics are: Globalization: Medical ethics is likely to have to grapple increasingly with ethical issues arising from the huge discrepancies in the level of health care available in different countries. Increase in longevity: We predict that there will be, at least amongst the richer nations, a significant increase in life expectancy. This will result in issues of resource allocation becoming increasingly problematic within medicine. Child enhancement: Developments in genetics combined with control of reproduction will make it possible to select our children for a broad range of characteristics. There are optimistic and pessimistic predictions as to how such power will be used. In either case, this area will be an important focus of concern in medical ethics. The biological determination of behaviour: Genetic research will lead to an increasing sense that undesirable behaviour is genetically determined. This will lead to a re-examination of such concepts as criminal responsibility. Therapeutic research and clinical practice: We predict that an increasing amount of clinical practice will be within the setting of clinical trials. The ethics of therapeutic research and clinical practice will need to be brought within a coherent framework.

Clinical Medicine↗

Genetics and intelligence differences: five special findings.

Intelligence is a core construct in differential psychology and behavioural genetics, and should be so in cognitive neuroscience. It is one of the best predictors of important life outcomes such as education, occupation, mental and physical health and illness, and mortality. Intelligence is one of the most heritable behavioural traits. Here, we highlight five genetic findings that are special to intelligence differences and that have important implications for its genetic architecture and for gene-hunting expeditions. (i) The heritability of intelligence increases from about 20% in infancy to perhaps 80% in later adulthood. (ii) Intelligence captures genetic effects on diverse cognitive and learning abilities, which correlate phenotypically about 0.30 on average but correlate genetically about 0.60 or higher. (iii) Assortative mating is greater for intelligence (spouse correlations ~0.40) than for other behavioural traits such as personality and psychopathology (~0.10) or physical traits such as height and weight (~0.20). Assortative mating pumps additive genetic variance into the population every generation, contributing to the high narrow heritability (additive genetic variance) of intelligence. (iv) Unlike psychiatric disorders, intelligence is normally distributed with a positive end of exceptional performance that is a model for 'positive genetics'. (v) Intelligence is associated with education and social class and broadens the causal perspectives on how these three inter-correlated variables contribute to social mobility, and health, illness and mortality differences. These five findings arose primarily from twin studies. They are being confirmed by the first new quantitative genetic technique in a century-Genome-wide Complex Trait Analysis (GCTA)-which estimates genetic influence using genome-wide genotypes in large samples of unrelated individuals. Comparing GCTA results to the results of twin studies reveals important insights into the genetic architecture of intelligence that are relevant to attempts to narrow the 'missing heritability' gap.

Genetic Predisposition to Disease↗

Evolutionary psychology and genetic variation: non-adaptive, fitness-related and adaptive.

Behavioural variation across individuals can be substantial. A broad generalization emerging from three decades of behavioural genetic studies is that most psychological individual differences have moderate broad heritabilities (30-60%). There are at least three possible scenarios for this genetic variation. First, it may be adaptively neutral and not subject to selection. Second, it may be related to fitness despite selection. Third, it may be maintained by selection for alternative adaptations. Some authors favour the first of these possibilities, but the latter two cannot be ruled out. First, temporally varying selection pressures (e.g. pathogens) can maintain fitness-related genetic variance in a population despite current selection pressures. Moreover, direct and indirect evidence on humans support the notion that some phenotypic variance is fitness related. Second, while adaptive alternatives are unlikely to be found at a level of highly complex design, frequency dependent selection can maintain variation at finer, quantitative levels. One potential example is discussed. Because of their particular relevance to evolutionary psychology, fitness-related and adaptive genetic variance deserve further attention.

Adaptation, Psychological↗