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1.
Eur J Psychotraumatol ; 13(2): 2101349, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35928522

RESUMO

Background: A substantial proportion of clinical World War Two survivor offspring reports intrusions about war events they did not experience themselves. Objective: To help identify factors that contribute to the development of such indirect intrusions (i.e. intrusions about non-self-experienced traumatic events), we examined the personal characteristics of survivor offspring that were related to the presence of indirect intrusions. To explore the specificity of these relationships, we compared characteristics related to the presence of indirect and direct intrusions (i.e. intrusions about self-experienced traumatic events). Methods: Participants (N = 98) were post-war offspring of World War Two survivors in treatment in one of two clinics specialized in mental health services for war victims. We assessed the presence of indirect and direct intrusions as well as the following personal characteristics: gender, education level, trait dissociation, affect intensity, attentional control, mental imagery, fantasy proneness, and current psychopathology. Results: Reports of indirect intrusions were more frequent in individuals high in fantasy proneness, trait dissociation, and current psychopathology. Reports of direct intrusions were more frequent in women, individuals scoring high on trait dissociation, affect intensity, and current psychopathology. Fantasy proneness was a unique correlate of indirect intrusions. Conclusions: These findings are consistent with the idea that intrusions are the result of (re)constructive processes affected by several factors including personal characteristics. HIGHLIGHTS: Offspring of World War Two survivors often experience indirect intrusions.We examined personal characteristics related to indirect and direct intrusions.Fantasy proneness was the best predictor of indirect intrusions.Gender was the best predictor of direct intrusions.


Antecedentes: Una proporción sustancial de los descendientes sobrevivientes clínicos de la Segunda Guerra Mundial reportan intrusiones sobre eventos de guerra que no experimentaron ellos mismos.Objetivo: Para ayudar a identificar los factores que contribuyen al desarrollo de tales intrusiones indirectas (es decir, intrusiones sobre eventos traumáticos no-auto-experimentados) examinamos las características personales de los hijos sobrevivientes que estaban relacionadas con la presencia de intrusiones indirectas. Para explorar la especificidad de estas relaciones, comparamos las características relacionadas con la presencia de intrusiones indirectas y directas (es decir, intrusiones sobre eventos traumáticos auto-experimentados).Métodos: Los participantes (N = 98) fueron hijos de sobrevivientes de la Segunda Guerra Mundial que estaban en tratamiento en alguna de las dos clínicas especializadas en servicios de salud mental para víctimas de guerra. Se evaluó la presencia de intrusiones indirectas y directas, así como las siguientes características personales: sexo, nivel educativo, disociación de rasgos, intensidad afectiva, control atencional, imaginería mental, propensión a la fantasía y psicopatología actual.Resultados: Los informes de intrusiones indirectas fueron más frecuentes en individuos con alta propensión a la fantasía, disociación de rasgos y psicopatología actual. Los informes de intrusiones directas fueron más frecuentes en mujeres, individuos con puntajes altos en disociación de rasgos, intensidad afectiva y psicopatología actual. La propensión a la fantasía fue un correlato único de las intrusiones indirectas.Conclusiones: Estos hallazgos son consistentes con la idea de que las intrusiones son el resultado de procesos (re)constructivos afectados por varios factores, incluidas las características personales.


Assuntos
Transtornos de Estresse Pós-Traumáticos , Feminino , Humanos , Transtornos de Estresse Pós-Traumáticos/epidemiologia , Sobreviventes/psicologia
2.
Child Psychiatry Hum Dev ; 53(6): 1174-1185, 2022 12.
Artigo em Inglês | MEDLINE | ID: mdl-34100184

RESUMO

A substantial proportion of youth with anxiety disorders shows comorbid behavioral (anger) problems. Such comorbid profile is associated with low treatment effectiveness and negative (longterm) outcomes. This study was therefore designed to examine trait factors that may promote anger responding in adolescents. By presenting participants (N = 158, mean age = 15.7, 56% female) with a series of common anger-eliciting situations, we tested whether high reward sensitivity would be associated with anger via perceived non-reward, and high punishment sensitivity via perceived threat. In line with the hypotheses, an indirect effect of reward sensitivity on anger was found via perceived non-reward, and an indirect effect of punishment sensitivity on anger via perceived threat. The latter association also had an indirect effect via perceived non-reward. High punishment and reward sensitivity may thus set adolescents at risk for developing (comorbid) anger problems via heightened threat and non-reward perceptions.


Assuntos
Punição , Recompensa , Adolescente , Ira , Feminino , Humanos , Masculino
3.
Appetite ; 168: 105746, 2022 01 01.
Artigo em Inglês | MEDLINE | ID: mdl-34637770

RESUMO

The term 'hangry' is colloquially used to describe being "bad tempered or irritable as a result of hunger," but remarkably few studies have examined the effect of hunger on emotions. Yet, women attempting to restrict their food intake may be at risk of becoming entangled in a vicious cycle of hunger and negative emotions. That is, hunger may lead to negative emotions, which can lead to overeating and overeating can, in turn, provoke subsequent restriction leading to more hunger. Therefore the aim of this study was to examine the effect of hunger on positive and negative emotions in women with a healthy BMI, and the role of subclinical eating disorder symptoms in this effect. We randomly assigned women to a hunger condition (fasting for 14 h, n = 53) or satiated condition (eat breakfast before the study, n = 55), and they completed the Eating Disorder Examination Questionnaire and the Profile of Mood States in the lab. Hungry women reported overall higher negative emotions (higher tension, anger, fatigue, and confusion) and lower positive emotions (lower vigour and marginally lower esteem-related affect) than satiated women. Moreover, for satiated but not for hungry women, higher eating disorder symptoms were associated with lower esteem-related affect. These findings show that food restriction leads to negative emotions, and practitioners and individuals should be aware of these implications of food restriction on mental health. Second, clinicians and individuals should be wary of relatively low esteem-related affect when satiated in individuals with eating disorder symptoms, as it could serve as a maintaining factor in eating pathology.


Assuntos
Transtornos da Alimentação e da Ingestão de Alimentos , Fome , Ingestão de Alimentos , Emoções , Comportamento Alimentar , Feminino , Humanos , Hiperfagia
4.
J Abnorm Child Psychol ; 48(8): 1007-1021, 2020 08.
Artigo em Inglês | MEDLINE | ID: mdl-32445103

RESUMO

Heightened reward sensitivity has been proposed as a risk factor for developing behavioral disorders whereas heightened punishment sensitivity has been related to the development of anxiety disorders in youth. Combining a cross-sectional (n = 696, mean age = 16.14) and prospective (n = 598, mean age = 20.20) approach, this study tested the hypotheses that an attentional bias for punishing cues is involved in the development of anxiety disorders and an attentional bias for rewarding cues in the development of behavioral disorders. A spatial orientation task was used to examine the relation between an attentional bias for punishing cues and an attentional bias for rewarding cues with anxiety and behavioral problems in a subsample of a large prospective population cohort study. Our study indicates that attentional biases to general cues of punishment and reward do not seem to be important risk factors for the development of anxiety or behavioral problems respectively. It might be that attentional biases play a role in the maintenance of psychological problems. This remains open for future research.


Assuntos
Comportamento do Adolescente/psicologia , Transtornos de Ansiedade/psicologia , Viés de Atenção , Comportamento Problema/psicologia , Punição/psicologia , Recompensa , Adolescente , Estudos de Coortes , Estudos Transversais , Sinais (Psicologia) , Feminino , Humanos , Masculino , Países Baixos , Estudos Prospectivos , Tempo de Reação , Percepção Espacial
5.
Motiv Emot ; 41(2): 265-272, 2017.
Artigo em Inglês | MEDLINE | ID: mdl-28344369

RESUMO

This study examined whether approach-avoidance related behaviour elicited by facial affect is moderated by the presence of an observer-irrelevant trigger that may influence the observer's attributions of the actor's emotion. Participants were shown happy, disgusted, and neutral facial expressions. Half of these were presented with a plausible trigger of the expression (a drink). Approach-avoidance related behaviour was indexed explicitly through a questionnaire (measuring intentions) and implicitly through a manikin version of the affective Simon task (measuring automatic behavioural tendencies). In the absence of an observer-irrelevant trigger, participants expressed the intention to avoid disgusted and approach happy facial expressions. Participants also showed a stronger approach tendency towards happy than towards disgusted facial expressions. The presence of the observer-irrelevant trigger had a moderating effect, decreasing the intention to approach happy and to avoid disgusted expressions. The trigger had no moderating effect on the approach-avoidance tendencies. Thus the influence of an observer-irrelevant trigger appears to reflect more of a controlled than automatic process.

6.
Behav Res Ther ; 87: 11-22, 2016 12.
Artigo em Inglês | MEDLINE | ID: mdl-27585484

RESUMO

Based on information processing models of anxiety and depression, we investigated the efficacy of multiple sessions of online attentional bias modification training to reduce attentional bias and symptoms of anxiety and depression, and to increase emotional resilience in youth. Unselected adolescents (N = 340, age: 11-18 years) were randomly allocated to eight sessions of a dot-probe, or a visual search-based attentional training, or one of two corresponding placebo control conditions. Cognitive and emotional measures were assessed pre- and post-training; emotional outcome measures also at three, six and twelve months follow-up. Only visual search training enhanced attention for positive information, and this effect was stronger for participants who completed more training sessions. Symptoms of anxiety and depression reduced, whereas emotional resilience improved. However, these effects were not especially pronounced in the active conditions. Thus, this large-scale randomized controlled study provided no support for the efficacy of the current online attentional bias modification training as a preventive intervention to reduce symptoms of anxiety or depression or to increase emotional resilience in unselected adolescents. However, the absence of biased attention related to symptomatology at baseline, and the large drop-out rates at follow-up preclude strong conclusions.


Assuntos
Ansiedade/terapia , Viés de Atenção , Depressão/terapia , Adolescente , Comportamento do Adolescente , Criança , Cognição , Emoções , Feminino , Humanos , Internet , Masculino , Resiliência Psicológica , Ensino
7.
Psychol Med ; 42(3): 475-84, 2012 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-21798114

RESUMO

BACKGROUND: Social anxiety and depression often co-occur. As low self-esteem has been identified as a risk factor for both types of symptoms, it may help to explain their co-morbidity. Current dual process models of psychopathology differentiate between explicit and implicit self-esteem. Explicit self-esteem would reflect deliberate self-evaluative processes whereas implicit self-esteem would reflect simple associations in memory. Previous research suggests that low explicit self-esteem is involved in both social anxiety and depression whereas low implicit self-esteem is only involved in social anxiety. We tested whether the association between symptoms of social phobia and depression can indeed be explained by low explicit self-esteem, whereas low implicit self-esteem is only involved in social anxiety. METHOD: Adolescents during the first stage of secondary education (n=1806) completed the Revised Child Anxiety and Depression Scale (RCADS) to measure symptoms of social anxiety and depression, the Rosenberg Self-Esteem Scale (RSES) to index explicit self-esteem and the Implicit Association Test (IAT) to measure implicit self-esteem. RESULTS: There was a strong association between symptoms of depression and social anxiety that could be largely explained by participants' explicit self-esteem. Only for girls did implicit self-esteem and the interaction between implicit and explicit self-esteem show small cumulative predictive validity for social anxiety, indicating that the association between low implicit self-esteem and social anxiety was most evident for girls with relatively low explicit self-esteem. Implicit self-esteem showed no significant predictive validity for depressive symptoms. CONCLUSIONS: The findings support the view that both shared and differential self-evaluative processes are involved in depression and social anxiety.


Assuntos
Depressão/epidemiologia , Transtornos Fóbicos/epidemiologia , Autoimagem , Adolescente , Adulto , Ansiedade , Comorbidade , Depressão/psicologia , Métodos Epidemiológicos , Feminino , Humanos , Masculino , Modelos Psicológicos , Países Baixos/epidemiologia , Transtornos Fóbicos/psicologia , Escalas de Graduação Psiquiátrica , Testes Psicológicos , Tempo de Reação/fisiologia , Distribuição por Sexo
8.
Psychol Med ; 40(7): 1101-11, 2010 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-19811700

RESUMO

BACKGROUND: Cognitive theory points to the importance of negative self-schemas in the onset and maintenance of depression and anxiety disorders. Hereby, it is important to distinguish between automatic and explicit self-schemas, reflecting different cognitive-motivational systems. This study tested whether patients with a current major depression and/or anxiety disorder are characterized by automatic self-anxious and self-depressive associations and whether these associations are disorder specific. METHOD: Patients (n=2329) and non-clinical controls (n=652) were tested as part of The Netherlands Study of Depression and Anxiety, a multi-center, longitudinal, cohort study with patients from different health care settings. Patient groups and non-clinical controls (18-65 years of age) were compared with regard to automatic self-anxious and self-depressive associations measured with the Implicit Association Test. RESULTS: Individuals with an anxiety disorder showed enhanced self-anxious associations, whereas individuals with a depression showed enhanced self-depressive associations. Individuals with co-morbid disorders scored high on both automatic self-associations. Although remitted individuals showed weaker automatic self-associations than people with a current disorder, their automatic self-anxious/depressed associations were still significantly stronger than those of the control group. Importantly, automatic self-associations showed predictive validity for the severity of anxious and depressive symptoms over and above explicit self-beliefs. CONCLUSIONS: This study represents the first evidence that automatic self-anxious and self-depressive associations are differentially involved in anxiety disorders and depression. This may help to explain the refractoriness of these disorders and points to the potential importance of automatic self-associations in the development of psychopathological symptoms.


Assuntos
Transtornos de Ansiedade/psicologia , Automatismo , Transtorno Depressivo/psicologia , Adolescente , Adulto , Idoso , Transtornos de Ansiedade/diagnóstico , Estudos de Coortes , Transtorno Depressivo/diagnóstico , Feminino , Seguimentos , Humanos , Masculino , Pessoa de Meia-Idade , Autoimagem , Índice de Gravidade de Doença , Inquéritos e Questionários , Testes de Associação de Palavras , Adulto Jovem
9.
Science ; 323(5918): 1205-8, 2009 Feb 27.
Artigo em Inglês | MEDLINE | ID: mdl-19251627

RESUMO

Amyotrophic lateral sclerosis (ALS) is a fatal degenerative motor neuron disorder. Ten percent of cases are inherited; most involve unidentified genes. We report here 13 mutations in the fused in sarcoma/translated in liposarcoma (FUS/TLS) gene on chromosome 16 that were specific for familial ALS. The FUS/TLS protein binds to RNA, functions in diverse processes, and is normally located predominantly in the nucleus. In contrast, the mutant forms of FUS/TLS accumulated in the cytoplasm of neurons, a pathology that is similar to that of the gene TAR DNA-binding protein 43 (TDP43), whose mutations also cause ALS. Neuronal cytoplasmic protein aggregation and defective RNA metabolism thus appear to be common pathogenic mechanisms involved in ALS and possibly in other neurodegenerative disorders.


Assuntos
Esclerose Lateral Amiotrófica/genética , Cromossomos Humanos Par 16/genética , Mutação de Sentido Incorreto , Proteína FUS de Ligação a RNA/genética , Proteína FUS de Ligação a RNA/metabolismo , Idade de Início , Substituição de Aminoácidos , Esclerose Lateral Amiotrófica/metabolismo , Esclerose Lateral Amiotrófica/patologia , Animais , Encéfalo/patologia , Linhagem Celular Tumoral , Núcleo Celular/metabolismo , Citoplasma/metabolismo , Proteínas de Ligação a DNA/genética , Proteínas de Ligação a DNA/metabolismo , Éxons , Feminino , Humanos , Masculino , Camundongos , Neurônios Motores/química , Neurônios Motores/metabolismo , Neurônios Motores/ultraestrutura , Proteínas Mutantes/química , Proteínas Mutantes/genética , Proteínas Mutantes/metabolismo , Neurônios/metabolismo , Neurônios/ultraestrutura , RNA/metabolismo , Proteína FUS de Ligação a RNA/química , Proteínas Recombinantes de Fusão/metabolismo , Análise de Sequência de DNA , Medula Espinal/patologia
10.
Spine (Phila Pa 1976) ; 33(22): 2427-33; discussion 2434, 2008 Oct 15.
Artigo em Inglês | MEDLINE | ID: mdl-18923318

RESUMO

STUDY DESIGN: Prospective cohort study. OBJECTIVE: This study investigates the role of pain catastrophizing and causal beliefs with regard to severity and persistence of neck complaints after motor vehicle accidents. SUMMARY OF BACKGROUND DATA.: In previous research on low back pain, somatoform disorders and chronic fatigue syndrome, pain catastrophizing and causal beliefs were found to be related to perceived disability and prognosis. Furthermore, it has been argued with respect to whiplash that culturally dependent symptom expectations are responsible for a chronic course. METHODS: Individuals involved in traffic accidents who initiated compensation claim procedures with a Dutch insurance company were sent questionnaires (Q1) containing the Neck Disability Index, the Pain Catastrophizing Scale, and the Causal Beliefs Questionnaire-Whiplash. Of 1252 questionnaires dispatched, 747 (59.7%) were returned. Only car occupants with neck complaints were included in this study (n = 140). Complaints were monitored using additional questionnaires administered 6 (Q2) and 12 months (Q3) after the accident. RESULTS: Pain catastrophizing and causal beliefs were related to the severity of concurrent whiplash disability. The severity of initial complaints was related to the severity and persistence of whiplash complaints. Attributing initial neck complaints to whiplash was found to predict the persistence of disability at 6 and 12 months follow-up, over and above the severity of the initial complaints. CONCLUSION: The results suggest that causal beliefs may play a major role in the perceived disability and course of neck complaints after motor vehicle accidents, whereas pain catastrophizing is predominantly related to concurrent disability.The current findings are consistent with the view that an early conviction that neck complaints are caused by the medico-cultural entity whiplash has a detrimental effect on the course of symptoms.


Assuntos
Acidentes de Trânsito , Cultura , Comportamento de Doença , Cervicalgia/psicologia , Traumatismos em Chicotada/psicologia , Adaptação Psicológica , Adulto , Avaliação da Deficiência , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Cervicalgia/etiologia , Países Baixos , Medição da Dor , Percepção , Prognóstico , Estudos Prospectivos , Índice de Gravidade de Doença , Estresse Psicológico/etiologia , Inquéritos e Questionários , Fatores de Tempo , Traumatismos em Chicotada/complicações , Adulto Jovem
11.
Mar Biotechnol (NY) ; 10(5): 487-91, 2008.
Artigo em Inglês | MEDLINE | ID: mdl-18386095

RESUMO

Genomic resources in rainbow smelt (Osmerus mordax) enable us to examine the genome duplication process in salmonids and test hypotheses relating to the fate of duplicated genes. They further enable us to pursue physiological and ecological studies in smelt. A bacterial artificial chromosome library containing 52,410 clones with an average insert size of 146 kb was constructed. This library represents an 11-fold average coverage of the rainbow smelt (O. mordax) genome. In addition, several complementary deoxyribonucleic acid libraries were constructed, and 36,758 sequences were obtained and combined into 12,159 transcripts. Over half of these transcripts have been identified, several of which have been associated with cold adaptation. These basic resources show high levels of similarity (86%) to salmonid genes and provide initial support for genome duplication in the salmonid ancestor. They also facilitate identification of genes important to fish and direct us toward new technologies for other studies in fish biology.


Assuntos
Etiquetas de Sequências Expressas , Biblioteca Genômica , Osmeriformes/genética , Animais , Cromossomos Artificiais Bacterianos/genética , Temperatura Baixa , Bases de Dados Genéticas , Proteínas de Peixes/genética , Biblioteca Gênica , Dados de Sequência Molecular
12.
J Med Genet ; 45(2): 81-6, 2008 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-17873121

RESUMO

AIM AND METHOD: We analysed DNA samples isolated from individuals born with cleft lip and cleft palate to identify deletions and duplications of candidate gene loci using array comparative genomic hybridisation (array-CGH). RESULTS: Of 83 syndromic cases analysed we identified one subject with a previously unknown 2.7 Mb deletion at 22q11.21 coinciding with the DiGeorge syndrome region. Eighteen of the syndromic cases had clinical features of Van der Woude syndrome and deletions were identified in five of these, all of which encompassed the interferon regulatory factor 6 (IRF6) gene. In a series of 104 non-syndromic cases we found one subject with a 3.2 Mb deletion at chromosome 6q25.1-25.2 and another with a 2.2 Mb deletion at 10q26.11-26.13. Analyses of parental DNA demonstrated that the two deletion cases at 22q11.21 and 6q25.1-25.2 were de novo, while the deletion of 10q26.11-26.13 was inherited from the mother, who also has a cleft lip. These deletions appear likely to be causally associated with the phenotypes of the subjects. Estrogen receptor 1 (ESR1) and fibroblast growth factor receptor 2 (FGFR2) genes from the 6q25.1-25.2 and 10q26.11-26.13, respectively, were identified as likely causative genes using a gene prioritization software. CONCLUSION: We have shown that array-CGH analysis of DNA samples derived from cleft lip and palate subjects is an efficient and productive method for identifying candidate chromosomal loci and genes, complementing traditional genetic mapping strategies.


Assuntos
Fenda Labial/genética , Fissura Palatina/genética , Sequência de Bases , Criança , Deleção Cromossômica , Mapeamento Cromossômico , Cromossomos Artificiais Bacterianos/genética , Cromossomos Humanos Par 10/genética , Cromossomos Humanos Par 22/genética , Cromossomos Humanos Par 6/genética , DNA/genética , Feminino , Dosagem de Genes , Variação Genética , Humanos , Masculino , Hibridização de Ácido Nucleico , Fenótipo , Síndrome
13.
Chromosome Res ; 13(4): 411-22, 2005.
Artigo em Inglês | MEDLINE | ID: mdl-15973505

RESUMO

Clones from one BAC and one PAC library carrying centromeric alphoid DNA were characterized and found to be stable but to differ according to the enzyme used to make the library. Five different clones with homogeneous alphoid DNA, derived from chromosomes 13/21, 14/22, 17 and 18, were all shown to form minichromosomes de novo after transfection into the human cell line HT1080 in greater than 29% of the cell lines analysed. Similarly sized alphoid arrays (110-160 kb) from chromosomes 17, 13/21 and 14/22 all formed minichromosomes in about 50% of the cell lines analysed while a smaller array (50 kb) of 14/22 alphoid was less efficient (29% of cell lines) and a larger array (200 kb) from chromosome 18 was more efficient (2/2 cell lines). Thus the larger arrays of alphoid DNA gave higher percentages of cell lines with minichromosomes. However, smaller arrays may be preferable for gene expression as there appeared to be more EGFP expression from these minichromosomes.


Assuntos
Cromossomos/genética , Cromossomos/metabolismo , DNA Satélite/genética , Centrômero/metabolismo , Cromossomos/química , Cromossomos Artificiais Bacterianos/genética , Cromossomos Artificiais de Bacteriófago P1/genética , Clonagem Molecular , Humanos , Análise de Sequência de DNA
14.
Pain ; 114(3): 491-498, 2005 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-15777874

RESUMO

The current study aimed to measure the differential predictive value of implicit and explicit attitude measures on treatment behaviour of health care providers. Thirty-six physiotherapy students completed a measure of explicit treatment attitude (Pain Attitudes And Beliefs Scale For Physiotherapists-PABS-PT) and a measure of implicit treatment attitude (Extrinsic Affective Simon Task-EAST). Furthermore, they gave treatment recommendations for a patient simulating back pain on three video scenes. The implicit and explicit measures of attitudes were only weakly related to each other. However, both were differentially related to treatment recommendations. The implications of the differential predictive value of implicit and explicit attitude measures for treatment behaviour are discussed.


Assuntos
Pessoal Técnico de Saúde/psicologia , Atitude do Pessoal de Saúde , Dor nas Costas/psicologia , Dor nas Costas/terapia , Especialidade de Fisioterapia , Adulto , Pessoal Técnico de Saúde/educação , Feminino , Humanos , Masculino , Especialidade de Fisioterapia/educação , Valor Preditivo dos Testes , Reprodutibilidade dos Testes , Estudantes/psicologia , Gravação de Videoteipe
15.
Mol Biol Evol ; 20(9): 1463-79, 2003 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-12777517

RESUMO

Despite considerable advances in sequencing of the human genome over the past few years, the organization and evolution of human pericentromeric regions have been difficult to resolve. This is due, in part, to the presence of large, complex blocks of duplicated genomic sequence at the boundary between centromeric satellite and unique euchromatic DNA. Here, we report the identification and characterization of an approximately 49-kb repeat sequence that exists in more than 40 copies within the human genome. This repeat is specific to highly duplicated pericentromeric regions with multiple copies distributed in an interspersed fashion among a subset of human chromosomes. Using this interspersed repeat (termed PIR4) as a marker of pericentromeric DNA, we recovered and sequence-tagged 3 Mb of pericentromeric DNA from a variety of human chromosomes as well as nonhuman primate genomes. A global evolutionary reconstruction of the dispersal of PIR4 sequence and analysis of flanking sequence supports a model in which pericentromeric duplications initiated before the separation of the great ape species (>12 MYA). Further, analyses of this duplication and associated flanking duplications narrow the major burst of pericentromeric duplication activity to a time just before the divergence of the African great ape and human species (5 to 7 MYA). These recent duplication exchange events substantially restructured the pericentromeric regions of hominoid chromosomes and created an architecture where large blocks of sequence are shared among nonhomologous chromosomes. This report provides the first global view of the series of historical events that have reshaped human pericentromeric regions over recent evolutionary time.


Assuntos
Centrômero/genética , Duplicação Gênica , Genoma Humano , Hominidae/genética , Sequências Repetitivas de Ácido Nucleico/genética , Animais , Cromossomos Humanos , Evolução Molecular , Variação Genética , Humanos , Hibridização in Situ Fluorescente , Dados de Sequência Molecular , Filogenia , Mapeamento Físico do Cromossomo , Primatas
16.
Cytogenet Genome Res ; 102(1-4): 32-8, 2003.
Artigo em Inglês | MEDLINE | ID: mdl-14970675

RESUMO

We have constructed a medium density physical map of bovine chromosome 19 using a combination of mapping loci on both a bovine bacterial artificial chromosome (BAC) scaffold map and a whole genome radiation hybrid (WGRH) panel. The resulting map contains 70 loci spanning the length of bovine chromosome 19. Three contiguous groups of BACs were identified on the basis of multiple loci mapping to individual BAC clones. Bovine chromosome 19 was found in this study to be comprised almost entirely from regions of human chromosome 17, with a small region putatively assigned to human chromosome 10. Fourteen breakpoints between the bovine and human chromosomes were detected, with a possibility of five more based on ordering of the WGRH map.


Assuntos
Cromossomos Artificiais Bacterianos/genética , Cromossomos/genética , Genoma , Mapeamento Físico do Cromossomo/métodos , Mapeamento Físico do Cromossomo/veterinária , Mapeamento de Híbridos Radioativos/métodos , Mapeamento de Híbridos Radioativos/veterinária , Animais , Bovinos , Mapeamento de Sequências Contíguas/métodos , Mapeamento de Sequências Contíguas/veterinária , Marcadores Genéticos/genética , Humanos , Masculino , Sondas de Oligonucleotídeos/genética
18.
J Anxiety Disord ; 15(5): 413-32, 2001.
Artigo em Inglês | MEDLINE | ID: mdl-11583074

RESUMO

Patients with fear of blushing as the predominant complaint (N = 31) were randomly assigned to (1) exposure in vivo (EXP), or (2) task concentration training (TCT), in order to test the effect of redirecting attention above exposure only. In addition, it was investigated whether treatment reduced actual blush behavior; therefore, physiological parameters of blushing were measured during two behavioral tests. Half of the patients served as waiting-list controls first. Assessments were held before and after treatment, at 6-weeks, and at 1-year follow-up. Both treatments appeared to be effective in reducing fear of blushing and realizing cognitive change. Yet, at posttest, TCT tended to produce better results with respect to fear of blushing. At 6-weeks follow-up, TCT produced significantly more cognitive change. At 1-year follow-up, patients further improved, while differential effects had disappeared. The reduction in fear of blushing was not paralleled by a reduction in actual blush behavior during the behavioral assessments. Thus, it seems that fear of blushing reflects a fearful preoccupation, irrespective of actual facial coloration.


Assuntos
Atenção , Terapia Comportamental/métodos , Afogueamento/psicologia , Medo , Transtornos Fóbicos/terapia , Adulto , Feminino , Humanos , Controle Interno-Externo , Masculino , Análise Multivariada , Transtornos Fóbicos/psicologia , Pletismografia , Escalas de Graduação Psiquiátrica , Autoavaliação (Psicologia) , Enquadramento Psicológico , Inquéritos e Questionários , Resultado do Tratamento
19.
Chem Senses ; 26(7): 925-33, 2001 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-11555487

RESUMO

Differences in sweetener intake among inbred strains of mice are partially determined by allelic variation of the saccharin preference (Sac) locus. Genetic and physical mapping limited a critical genomic interval containing Sac to a 194 kb DNA fragment. Sequencing and annotation of this region identified a gene (Tas1r3) encoding the third member of the T1R family of putative taste receptors, T1R3. Introgression by serial backcrossing of the 194 kb chromosomal fragment containing the Tas1r3 allele from the high-sweetener-preferring C57BL/6ByJ strain onto the genetic background of the low-sweetener-preferring 129P3/J strain rescued its low-sweetener-preference phenotype. Polymorphisms of Tas1r3 that are likely to have functional significance were identified using analysis of genomic sequences and sweetener-preference phenotypes of genealogically distant mouse strains. Tas1r3 has two common haplotypes, consisting of six single nucleotide polymorphisms: one haplotype was found in mouse strains with elevated sweetener preference and the other in strains relatively indifferent to sweeteners. This study provides compelling evidence that Tas1r3 is equivalent to the Sac locus and that the T1R3 receptor responds to sweeteners.


Assuntos
Clonagem Molecular , Preferências Alimentares , Sacarina/farmacologia , Alelos , Sequência de Aminoácidos , Animais , Mapeamento Cromossômico , Mapeamento de Sequências Contíguas , Cruzamentos Genéticos , Feminino , Biblioteca Gênica , Ligação Genética , Variação Genética , Genótipo , Haplótipos , Masculino , Camundongos , Camundongos Endogâmicos C57BL , Modelos Genéticos , Dados de Sequência Molecular , Fenótipo , Mapeamento Físico do Cromossomo , Polimorfismo Genético , Polimorfismo de Nucleotídeo Único , Homologia de Sequência de Aminoácidos , Limiar Gustativo
20.
Mamm Genome ; 12(8): 590-4, 2001 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-11471051

RESUMO

We identified and analyzed the genes Sp100, Csprs, and Ifi75 in two members of the genus Mus, M. musculus and M. caroli. Sp100 is a nuclear dot gene; Csprs and Ifi75 are novel genes encoding a putative G-protein coupled receptor (GPCR) and a putative transcriptional coactivator, respectively. A fourth gene, Sp100-rs, occurs in M. musculus, but not in M. caroli. Sp100-rs is a chimeric gene which arose by fusion of Sp100 and Csprs copies. Sp100-rs and Ifi75 are components of a repeat cluster that extends over 6-200 Mb of the M. musculus genome. The Sp100-rs fusion gene arose only 1-2 million years ago and has become fixed and amplified in M. musculus. Although the gene is transcribed, it appears to have no function. The repeat cluster may have become fixed in the species as a 'hitchhiker' in a 'selective sweep'.


Assuntos
Antígenos Nucleares , Camundongos/genética , Família Multigênica/genética , Proteínas Nucleares/genética , Receptores de Superfície Celular/genética , Receptores Acoplados a Proteínas G , Transativadores/genética , Animais , Sequência de Bases , Clonagem Molecular , Evolução Molecular , Éxons/genética , Dosagem de Genes , Genoma , Camundongos/classificação , Camundongos Endogâmicos C57BL , Dados de Sequência Molecular , Reação em Cadeia da Polimerase , Alinhamento de Sequência
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