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At least 649 records · Page 36Linked to original sources
PubMed2003

Wolfram syndrome and suicide: Evidence for a role of WFS1 in suicidal and impulsive behavior.

There is evidence suggesting that subjects affected with the Wolfram syndrome (WFS) and normal carriers present an increased risk of psychiatric disorders, particularly depression and suicidal behavior. We investigated a possible role of the gene involved in WFS (WFS1) in the neurobiology of suicide and the potential modulatory effect on traits associated to suicidal behavior. Genetic variation at WFS1 (H611R, R456H, and I333V) was investigated in 111 suicide victims and 129 normal controls. Possible effects on psychopathology and behavioral traits were investigated in a subsample of suicide cases (N = 31) for whom phenotyping was carried out by means of structured psychiatric interviews and questionnaires adapted for psychological autopsies. We found a significantly higher frequency of the 611R/611R genotype in suicide completers as compared to controls (chi(2) = 19.21, df=2, P = 0.001). Suicide completers with this genotype had higher scores on measures of impulsivity (t = -3.15, df = 15.3, P = 0.006); novelty seeking (NS) (t = -3.35, df = 13.8, P = 0.005); and conversely, lower scores of persistence (t = 2.4, df = 16.6, P = 0.028). Scores of impulsivity and NS remained higher in subjects with the associated genotype after adjusting for age, gender, and psychopathology. These results suggest a role for WFS1 in the pathophysiology of impulsive suicide, and are consistent with previous clinical reports suggesting an increased risk of suicidal behavior in WFS homozygotes and heterozygotes. However, these findings are preliminary and should be confirmed in independent samples.

Adult↗
PubMed1986

Acute rheumatic fever in the 1980s.

Acute rheumatic fever (ARF) is an inflammatory sequela which occurs in 1-3% of children afflicted with group A beta-hemolytic streptococcal pharyngitis (strep throat). The major manifestations are carditis, migratory polyarthritis and chorea. ARF recurs with repeated strep throats and frequently leads to rheumatic heart disease (RHD), usually mitral and aortic regurgitation and mitral stenosis. ARF likely results from an abnormal host immune response with a host-antibody/streptococcal antigen production in pharyngeal tissue and subsequent cross-reaction of host antibodies with host end organs. Treatment includes eradication of the streptococcus, use of high doses of salicylates and adrenal corticosteroids, and prolonged bed rest with gradual ambulation after clinical and laboratory signs of the disease are gone. While the incidence and mortality of ARF and RHD have decreased drastically in the affluent industrialized countries of Europe, North America, and in Japan, the disease is a major health problem in the less affluent, 'developing' countries of Latin America, the Middle East, Africa, India and Southeast Asia. The major risk factors for ARF are believed to be genetic or familial, inadequate medical care and crowded conditions. The last two factors are socioeconomic but may also be influenced by ethnic cultural behavior. Genetic propensity for ARF is supported by recent evidence of a specific DR-HLA marker in the majority of people with ARF or RHD. Finally, while ARF appears to be vanishing in most areas of the country, it is still prevalent in some affluent populations and in some disadvantaged minorities.

Acute Disease↗
PubMed1997

Physical mapping of the rice genome with BACs.

The development of genetics in this century has been catapulted forward by several milestones: rediscovery of Mendel's laws, determination of DNA as the genetic material, discovery of the double-helix structure of DNA and its implications for genetic behavior, and most recently, analysis of restriction fragment length polymorphisms (RFLPs). Each of these milestones has generated a huge wave of progress in genetics. Consequently, our understanding of organismal genetics now extends from phenotypes to their molecular genetic basis. It is now clear that the next wave of progress in genetics will hinge on genome molecular physical mapping, since a genome physical map will provide an invaluable, readily accessible system for many detailed genetic studies and isolation of many genes of economic or biological importance. Recent development of large-DNA fragment (> 100 kb) manipulation and cloning technologies, such as pulsed-field gel electrophoresis (PFGE), and yeast artificial chromosome (YAC) and bacterial artificial chromosome (BAC) cloning, has provided the powerful tools needed to generate molecular physical maps for higher-organism genomes. This chapter will discuss (1) an ideal physical map of plant genome and its applications in plant genetic and biological studies, (2) reviews on physical mapping of the genomes of Caenorhabditis elegans, Arabidopsis thaliana, and man, (3) large-insert DNA libraries: cosmid, YAC and BAC, and genome physical mapping, (4) physical mapping of the rice genome with BACs, and (5) perspectives on the physical mapping of the rice genome with BACs.

Animals↗
PubMed2001

Strengthening behavioral research on genetic mental retardation syndromes.

In this article we examine the status of behavioral research on genetic mental retardation syndromes. Although surveys suggest increased interest in such research, the field continues to struggle with three methodological issues: (a) how to think about control or contrast groups, (b) the interplay of behavioral phenotypes with development and other factors relating to within-group variation, and (c) the efficacy of etiology-based interventions. For each issue, we discuss salient concerns and make suggestions for future work.

Humans↗
PubMed1993

A genetic comparison of behavioral actions of ethanol and nicotine in the mirrored chamber.

Human alcoholics are almost invariably heavy users of tobacco, perhaps because both ethanol and nicotine may have anxiolytic activity. However, studies in humans have not uniformly detected anxiolytic effects because significant individual differences in anxiolytic actions of these agents seem to exist. One factor that seems to contribute to these individual differences is tolerance to ethanol. Individuals who are more sensitive to depressant actions of alcohol seem to show anxiolytic actions more readily. Consequently, we examined the relative sensitivities of the ethanol-sensitive (to the anesthetic actions of ethanol) long-sleep (LS) and ethanol-resistant short-sleep (SS) mouse lines to diazepam, ethanol, nicotine, and ethanol-nicotine combinations in the mirrored chamber test. This test measures approach-conflict behavior. Ethanol and nicotine evoked changes in mirrored chamber activities that resembled those elicited by diazepam. These effects were seen at doses that did not markedly affect locomotor activity, thereby suggesting that these changes in behavior represent anxiolytic actions. The LS-SS mice did not differ in sensitivity to diazepam, but the SS were more uniformly responsive to the other drugs. Only the SS showed clear evidence for interactions between ethanol and nicotine. If the changes in mirrored chamber behavior elicited by ethanol, nicotine, and combinations of the two drugs occur because of anxiety reduction, it seems that the SS mouse line is more responsive to anxiolytic actions of these drugs.

Animals↗
PubMed2003

Modeling behavior: the quest to link mechanisms to function.

T. Dobzhansky (1973) has been credited with saying: 'nothing in biology makes sense, except in the light of evolution'. The evolutionary conservation of gene function, as well as remarkable conservation of elemental behavioral mechanisms, guarantees that much of what we learn in one organism will inform our understanding of behavior in all animals, including humans. This insight has permitted behavior-geneticists to choose organisms based on experimental tractability for a given scientific question. IBANGS as a society has clearly embraced this Dobzhanskian worldview. As a result, the intellectual synergy of cross-species behavior-genetic analysis was palpable at the IBANGS meeting in Tours, France.

Animals↗
PubMed1999

Genetic dissection of behavior: modulation of locomotion by light in the Drosophila melanogaster larva requires genetically distinct visual system functions.

The Drosophila larva modulates its pattern of locomotion when exposed to light. Modulation of locomotion can be measured as a reduction in the distance traveled and by a sharp change of direction when the light is turned on. When the light is turned off this change of direction, albeit significantly smaller than when the light is turned on, is still significantly larger than in the absence of light transition. Mutations that disrupt adult phototransduction disrupt a subset of these responses. In larvae carrying these mutations the magnitude of change of direction when the light is turned on is reduced to levels indistinguishable from that recorded when the light is turned off, but it is still significantly higher than in the absence of any light transition. Similar results were obtained when these responses were measured in strains where the larval photoreceptor neurons were ablated by mutations in the glass (gl) gene or by the targeted expression of the cell death gene head involution defective (hid). A mutation in the homeobox gene sine oculis (so) that ablates the larval visual system, or the targeted expression of the reaper (rpr) cell death gene, abolishes all responses to light detected as a change of direction. We propose the existence of an extraocular light perception that does not use the same phototransduction cascade as the adult photoreceptors. Our results indicate that this novel visual function depends on the blue-absorbing rhodopsin Rh1 and is specified by the so gene.

Animals↗
PubMed2000

Contemporary research on parenting. The case for nature and nurture.

Current findings on parental influences provide more sophisticated and less deterministic explanations than did earlier theory and research on parenting. Contemporary research approaches include (a) behavior-genetic designs, augmented with direct measures of potential environmental influences; (b) studies distinguishing among children with different genetically influenced predispositions in terms of their responses to different environmental conditions; (c) experimental and quasi-experimental studies of change in children's behavior as a result of their exposure to parents' behavior, after controlling for children's initial characteristics; and (d) research on interactions between parenting and nonfamilial environmental influences and contexts, illustrating contemporary concern with influences beyond the parent-child dyad. These approaches indicate that parental influences on child development are neither as unambiguous as earlier researchers suggested nor as insubstantial as current critics claim.

Animals↗
PubMed2006

Quantitative genetics of adult behavioral response and larval physiological tolerance to permethrin in diamondback moth (Lepidoptera: Plutellidae).

We investigated the genetic basis of adult behavioral response and larval physiological tolerance to permethrin within two diamondback moth, Plutella xylostella (L.) (Lepidoptera: Plutellidae), populations from Wooster and Celeryville, OH, with different average levels of larval tolerance. The adult behavioral response was measured as oviposition site preference and was investigated using full-sib design and parent-offspring regression. Additive genetic variance (0.134 +/- 0.02) and the heritability (h2 = 0.31 +/- 0.08) for the behavioral response was significant for the Celeryville population, suggesting that in this population, a high proportion of phenotypic variation for adult behavioral response to permethrin was heritable genetic variation. The larval physiological response was measured with a topical application bioassay and was investigated using a half-sib design. Significant additive genetic variances and heritabilities for physiological tolerance to permethrin were detected in both populations. The genetic correlation between adult behavioral response and larval physiological tolerance to permethrin were negative, but significant only in the Celeryville population; indicating that adults from this population that are more behaviorally responsive produced offspring that are more susceptible to permethrin. Our findings have implications for the evolution and management of insecticide resistance in the diamondback moth. The adult behavioral response can lower the exposure of larvae to the insecticide, lowering selection pressure for physiological resistance in larvae. Furthermore, to the extent that the adult behavioral response increases fitness, it can indirectly select for larval susceptibility because of the negative correlation between the two traits.

Animals↗
PubMed1998

Characterization of an unstable allele of the Arabidopsis HY4 locus.

The Arabidopsis HY4 gene encodes the nonessential blue light photoreceptor CRY1. Loss-of-function hy4 mutants have an elongated hypocotyl phenotype after germination under blue light. We previously analyzed 20 independent hy4 alleles produced by fast neutron mutagenesis. These alleles were grouped into two classes based on their genetic behavior and corresponding deletion size: (1) null hy4 alleles that were semidominant over wild type and contained small or moderate-sized deletions at HY4 and (2) null hy4 alleles that were recessive lethal and contained large HY4 deletions. Here we describe one additional fast neutron hy4 mutant, B144, that did not fall into either of these two classes. Mutant B144 was isolated as a heterozygote with an intermediate hy4 phenotype. One allele from this mutant, hy4-B144(Delta), contains a large deletion at HY4 and is recessive lethal. The other allele from this mutant, HY4-B144*, appears to be intact and functional but is unstable and spontaneously converts to a nonfunctional hy4 allele. In addition, HY4-B144* is lethal in homozygotes and suppresses local recombination. We discuss genetic and epigenetic mechanisms that may account for the unusual behavior of the HY4-B144* allele.

Alleles↗
PubMed1994

Simultaneous genetic analysis of means and covariance structure: Pearson-Lawley selection rules.

The object of this paper is to indicate that the Pearson-Lawley selection rules form a plausible general theory for the simultaneous genetic analysis of means and covariance structure. Models are presented based on phenotypic selection and latent selection. Previously presented quantitative genetic models to decompose means and covariance structure simultaneously are reconsidered as instances of latent selection. The selection rules are very useful in the context of behavior genetic modeling because they lead to testable models and a conceptual framework for explaining variation between and within groups by the same genetic and environmental factors.

Genotype↗
PubMed2002

Neurobiological correlates of borderline personality disorder.

Although patients with borderline personality disorder (BPD) are commonly seen in psychiatric practice, there has been far less biological research in BPD than in other psychiatric disorders. This article reviews the neurobiological research that has been performed to date in BPD and integrates the biological, psychological, and clinical findings in this disorder. BPD is best thought of in terms of dimensions rather than as a specific disorder. Each dimension has a biological profile and may be expressed differently in different patients. Four core elements are suggested to play a major role in the development of BPD: interpersonal stress, affective instability, impulsivity, and dissociation and self-injurious behavior. Genetic and environmental factors lead to brain alterations that are the basis for specific presentations of the disorder, such as self-injurious and impulsive aggressive behavior.

Borderline Personality Disorder↗