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1.
Fetal Diagn Ther ; : 1-8, 2024 Apr 24.
Artículo en Inglés | MEDLINE | ID: mdl-38643759

RESUMEN

INTRODUCTION: No evidence-based protocols exist for fetal cardiac monitoring during fetoscopic myelomeningocele (fMMC) repair and intraprocedural spectral Doppler data are limited. We determined the feasibility of continuous fetal echocardiography during fMMC repair and correlated Doppler changes with qualitative fetal cardiac function during each phase of fMMC repair. METHODS: Patients undergoing fMMC repair had continuous fetal echocardiography interpreted in real-time by pediatric cardiology. Fetal data included fetal heart rate (FHR), qualitative cardiac function, mitral and tricuspid valve inflow waveforms, and umbilical artery (UA), umbilical vein (UV), ductus arteriosus (DA), and ductus venosus (DV) Dopplers. RESULTS: UA abnormalities were noted in 14/25 patients, UV abnormalities were observed in 2 patients, and DV and DA abnormalities were each noted in 4 patients. Qualitative cardiac function was normal for all patients with the exception of one with isolated left ventricular dysfunction during myofascial flap creation, concurrent with an abnormal UA flow pattern. All abnormalities resolved by the first postoperative day. CONCLUSIONS: Continuous fetal echocardiography was feasible during all fMMC repairs. Spectral Doppler changes in the UA were common during fMMC procedures but qualitative cardiac dysfunction was rare. Abnormalities in the UV, DV, and DA Dopplers, FHR, and cardiac function were less common findings.

2.
Dev Psychol ; 60(5): 791-808, 2024 May.
Artículo en Inglés | MEDLINE | ID: mdl-38557066

RESUMEN

"Diseases of despair," most prominently depressive and substance-related problems, diminish the prospects of many young adults, especially those with lower levels of education. Yet many young adults in that situation avoid these problems. Close relationships are thought to be a key factor underpinning risk and resilience among this group. To examine this premise, this study explored links, beyond potential confounders assessed in adolescence, between strengths and strains in the social domain and markers of despair in the early and mid-20s in a Canadian sample overrepresenting youth without postsecondary credentials (N = 543, 52% male, 23% non-White). Having a good general ability to maintain supportive relationships was associated with fewer depressive and substance-related symptoms. Furthermore, support and less strain in relationships with parents and friends were associated with fewer depressive symptoms in the early and mid-20s, while for romantic relationships, associations with depressive symptoms became more consistent and robust in the mid-20s. Therefore, support and strains in romantic relationships gradually gained prominence as a determinant of depressive symptoms as youth advanced in adulthood. For substance-related problems, significant associations emerged for strains in friendships only, in both the early and mid-20s. These results suggest that multiple aspects of relationships pose a risk for or protect from the development of diseases of despair in early adulthood and that their relative importance changes depending on outcomes and developmental timing. Thus, facilitating meaningful social connections and reducing the prevalence and impact of relationship strains might contribute to preventing diseases of despair among youth with lower educational attainment. (PsycInfo Database Record (c) 2024 APA, all rights reserved).


Asunto(s)
Depresión , Relaciones Interpersonales , Humanos , Masculino , Femenino , Adulto Joven , Depresión/psicología , Adolescente , Canadá , Trastornos Relacionados con Sustancias , Adulto , Amigos/psicología , Apoyo Social
3.
J Matern Fetal Neonatal Med ; 37(1): 2323623, 2024 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-38443062

RESUMEN

OBJECTIVE: To describe international surveillance and treatment strategies for managing anti-SSA/Ro autoantibody positive pregnancies. STUDY DESIGN: An electronic REDCap questionnaire was distributed to Fetal Heart Society and North American Fetal Therapy Network members which queried institution-based risk stratification, surveillance methods/frequency, conduction abnormality treatments, and postnatal anti-SSA/Ro pregnancy assessment. RESULTS: 101 responses from 59 centers (59% US, 17% international) were collected. Most (79%) do not risk stratify pregnancies by anti-SSA/Ro titer; those that do use varied cutoff values. Many pregnant rheumatology patients are monitored for cardiac abnormalities regardless of maternal anti-SSA/Ro status. Surveillance strategies were based on maternal factors (anti-SSA/Ro status 85%, titer 25%, prior affected child 79%) and monitoring durations varied. Most respondents treat 2° and 3° fetal atrioventricular block, commonly with dexamethasone and/or IVIG. CONCLUSIONS: Wide variation exists in current fetal cardiac surveillance and treatment for anti-SSA/Ro autoantibody positive pregnancies, highlighting the need for evidence-based protocols to optimize care.


Asunto(s)
Bloqueo Atrioventricular , Niño , Femenino , Embarazo , Humanos , Autoanticuerpos , Corazón Fetal , Instituciones de Salud , Atención Prenatal , Vitaminas
4.
Perm J ; 26(2): 11-20, 2022 06 29.
Artículo en Inglés | MEDLINE | ID: mdl-35933663

RESUMEN

Introduction This study describes the parental perspective of the management and care experience of patients experiencing a pregnancy complicated by a fetal diagnosis to inform more supportive patient-centered care. Methods We conducted a prospective multicenter qualitative patient experience study at three metropolitan children's hospitals' advanced fetal care centers: the Cincinnati, Colorado, and Midwest Fetal Care Centers. Data were collected from pregnant patients who experienced the management of a pregnancy complicated by a fetal anomaly. Clinical journey data were obtained using qualitative research methods in post-birth semistructured interviews. We assembled a generalizable patient journey map to identify the general clinical encounters, and present common participant experiences from diagnosis to post-birth discharge. Results Fifteen families were interviewed; four experienced a loss (27%). Common experiences of trust, education, surrounding support, consistency, and abandonment emerged across all centers. Participant trust in their care team was gained through strong referrals, institutional reputation, and transparent outcomes. Unconditional care team support and continual reassurance was paramount to maintaining participant trust throughout their care journey. Participants appreciated both active and passive educational techniques at clinical touch points. A consistent point of contact assured participants. All families mentioned they felt close to their fetal care team; however, several mentioned that the post-birth transition of care created feelings of abandonment. Conclusions When a family understands the clinical information and feels supported, they are empowered and confident in their ability to navigate their circumstances. Listening to the parental perspective is important to delivering sensitive fetal care.


Asunto(s)
Padres , Atención Prenatal , Niño , Femenino , Humanos , Alta del Paciente , Embarazo , Estudios Prospectivos , Investigación Cualitativa
5.
Appl Dev Sci ; 26(2): 303-316, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-38250481

RESUMEN

Encouraging involvement in school-based extracurricular activities (ECA) may be important for preventing high school dropout. However, the potential of these activities remains underexploited, perhaps because studies linking ECA involvement and dropout are rare and based on decades-old data. Previous studies also ignore key parameters of student involvement. The present study expands and updates this limited literature by using recent data from a high-risk Canadian sample (N = 545) and by considering a range of involvement parameters. Results showed that consistent involvement in the past year was associated with lower odds of dropout (OR = 0.32; 95% CI = 0.17-0.61). However, adolescents who interrupted their involvement during this period (e.g., because of cancelations or exclusions) were as much at risk of dropout as those who were not involved at all. Findings notably imply that excluding students from ECA (e.g., because of No Pass/No Play policies) may heighten their dropout risk.

6.
Fetal Diagn Ther ; 47(12): 955-959, 2020.
Artículo en Inglés | MEDLINE | ID: mdl-33049734

RESUMEN

INTRODUCTION: There is a paucity of reports describing the clinical course and likely postnatal outcomes of prenatally identified simple cystic abdominopelvic lesions which are not associated with the ovary. OBJECTIVE: The aim of this study was to describe the natural history and postnatal outcomes of prenatally discovered abdominopelvic cystic lesions seen at our center. METHODS: This study is a retrospective review of all newborns with prenatally discovered non-ovarian simple cystic abdominal or pelvic lesions (September 2012-December 2018). Prenatal solid organ involvement, lesion size, and postnatal clinical outcomes are described. RESULTS: Sixty-six patients with 68 cystic lesions were identified; 22 patients with 24 lesions met the defined study criteria and were included. Eleven (46%) resolved prenatally, while 5 (21%) resolved by 18 months of age. Of the 10 lesions associated with an organ, 4 (40%) resolved prenatally. Of the remaining 14 lesions not associated with a solid organ, 7 (50%) resolved prenatally. Seven lesions (29%) required postnatal surgical intervention. Larger maximum prenatal lesions tended toward postnatal surgical intervention (one-way ANOVA: p = 0.072). CONCLUSIONS: The majority of simple non-ovarian cystic abdominopelvic lesions at our center resolved in the perinatal period. Due to the low frequency of these lesions at fetal centers, a larger multicenter study based on a consistent monitoring protocol should be undertaken to better describe the resolution patterns of simple non-ovarian cystic lesions for improved prenatal counseling.


Asunto(s)
Quistes Ováricos , Ultrasonografía Prenatal , Abdomen/diagnóstico por imagen , Femenino , Humanos , Recién Nacido , Quistes Ováricos/diagnóstico por imagen , Quistes Ováricos/cirugía , Embarazo , Estudios Retrospectivos
7.
Appl Dev Sci ; 24(4): 323-338, 2020.
Artículo en Inglés | MEDLINE | ID: mdl-38737199

RESUMEN

This study describes policies and practices implemented in 12 high schools (Quebec, Canada) that more or less effectively leveraged extracurricular activities (ECA) to prevent dropout among vulnerable students. Following an explanatory sequential mixed design, three school profiles (Effective, Ineffective, and Mixed) were derived based on quantitative student-reported data. Qualitative interviews with frontline staff revealed that in Effective schools, ECA had a unique overarching goal: to support school engagement and perseverance among all students, including vulnerable ones. Moreover, in these schools staff had access to sufficient resources-human and material-and implemented inclusive practices. In Ineffective schools, ECA were used as a means to attract well-functioning students from middle-class families, and substantial resources were channeled toward these students, with few efforts to include vulnerable ones. Schools with a Mixed profile had both strengths and weakness. Recommendations for school-level policies that bolster ECA's ability to support students' perseverance are provided.

8.
J Adolesc ; 76: 55-64, 2019 10.
Artículo en Inglés | MEDLINE | ID: mdl-31470277

RESUMEN

INTRODUCTION: Despite inconclusive findings, educational researchers have long considered adequate parenting practices instrumental in preventing high school dropout among adolescents. The present short-term retrospective study focuses on parenting practices during middle adolescence when dropout typically occurs. METHODS: The culturally diverse, high-risk sample of Canadian adolescents (N = 108; Mage = 16.0 years) from low-income neighborhoods included very recent dropouts and matched still-in-school students. A global score reflecting the quality of parenting practices during the period preceding dropout (or comparable period) was derived from adolescents' answers to a well-established structured interview protocol. Transcripts of interviews were also used to identify the potentially disruptive challenges (e.g., parental incarceration) that families faced. RESULTS: Results show a robust relationship between current parenting practices and dropout that was not moderated by challenging family circumstances or immigration history. Descriptive findings indicate that extreme and relatively rare cases of parental neglect were associated with a high dropout risk, but that most dropouts lived in families where communication and supervision, although not entirely absent, were minimal. CONCLUSION: Offering systematic support to parents of middle adolescents could help to prevent dropout in high-risk communities.


Asunto(s)
Responsabilidad Parental/psicología , Abandono Escolar/psicología , Adolescente , Canadá , Estudios de Casos y Controles , Femenino , Humanos , Masculino , Pobreza , Investigación Cualitativa , Estudios Retrospectivos , Abandono Escolar/estadística & datos numéricos
9.
J Abnorm Child Psychol ; 47(6): 1053-1064, 2019 06.
Artículo en Inglés | MEDLINE | ID: mdl-30661146

RESUMEN

Gender differences in exposure and reactivity to specific stressful life events (SLE) contribute to explaining adolescent boys' and girls' differential susceptibility to common adjustment difficulties like depression and behavioral problems. However, it is unclear whether these gender differences are also relevant to understanding another key marker of adolescent maladjustment: high school dropout. A state-of-the-art interview protocol was used to assess recent SLE in a sample of academically vulnerable Canadian adolescents (N = 545, 52% boys). The sample was comprised of three groups in approximately equal proportions: 1) students who had recently dropped out; 2) matched students at risk of dropping out but who persevered nevertheless; and 3) "normative" students with an average level of risk. When SLE of all types were considered together, overall exposure was similar for adolescent boys and girls, and the SLE-dropout association did not vary as a function of gender. However, gender differences emerged for specific events. Boys were especially exposed to SLE related to performance (e.g., school failure, suspension) and conflicts with authority figures (e.g., with teachers or the police), whereas girls were particularly exposed to SLE involving relationship problems with family members, peers, or romantic partners. In terms of specific SLE-dropout associations, one consistent result emerged, showing that performance/authority-related SLE were significantly associated with dropout only among boys. It therefore seems that considering gendered exposure and sensitivity to SLE is important for understanding the emergence of educational difficulties with long-ranging consequences for future health and well-being.


Asunto(s)
Rendimiento Académico/estadística & datos numéricos , Conducta del Adolescente , Relaciones Interpersonales , Conducta Social , Estrés Psicológico/epidemiología , Abandono Escolar/estadística & datos numéricos , Adolescente , Femenino , Estudios de Seguimiento , Humanos , Masculino , Quebec/epidemiología , Factores Sexuales
10.
J Res Rural Educ ; 35(3): 1-20, 2019.
Artículo en Inglés | MEDLINE | ID: mdl-37503355

RESUMEN

This study examined whether recent disruptive events would increase the likelihood of high school dropout among both rural and urban youths, and whether the types of disruptive events preceding dropout would be different in rural vs. urban environments. Based on interviews conducted with early school leavers and matched at-risk schoolmates (N = 366) in 12 disadvantaged Canadian high schools, recent disruptive events appeared to generally trigger dropout. However, the prevalence of some types of events associated with dropout varies according to the environment. In agreement with social disorganization and formal/informal social control models, crises involving child welfare services or the juvenile justice system (e.g., an arrest after a fight) represented a lower share of triggering events among rural than urban leavers (8% vs. 26%, respectively), whereas those involving peer conflicts and rejection (e.g., exclusion from one's peer group) were overrepresented among rural compared to urban leavers (26% vs. 10%, respectively). These differences are thought to represent upsides and downsides associated with the relative density, stability, and overlapping nature of rural adolescents' social networks. Practical implications are discussed, notably regarding the relevance and contextual adaptation of prevention programs as a function of place.

11.
Child Dev ; 89(2): e107-e122, 2018 03.
Artículo en Inglés | MEDLINE | ID: mdl-28369807

RESUMEN

Adolescents who drop out of high school experience enduring negative consequences across many domains. Yet, the circumstances triggering their departure are poorly understood. This study examined the precipitating role of recent psychosocial stressors by comparing three groups of Canadian high school students (52% boys; Mage  = 16.3 years; N = 545): recent dropouts, matched at-risk students who remain in school, and average students. Results indicate that in comparison with the two other groups, dropouts were over three times more likely to have experienced recent acute stressors rated as severe by independent coders. These stressors occurred across a variety of domains. Considering the circumstances in which youth decide to drop out has implications for future research and for policy and practice.


Asunto(s)
Conducta del Adolescente , Instituciones Académicas/estadística & datos numéricos , Estrés Psicológico/epidemiología , Abandono Escolar/estadística & datos numéricos , Adolescente , Canadá/epidemiología , Femenino , Humanos , Masculino , Riesgo
12.
J Adolesc Health ; 62(2): 205-211, 2018 02.
Artículo en Inglés | MEDLINE | ID: mdl-29195763

RESUMEN

PURPOSE: Recent reviews concluded that past depression symptoms are not independently associated with high school dropout, a conclusion that could induce schools with high dropout rates and limited resources to consider depression screening, prevention, and treatment as low-priority. Even if past symptoms are not associated with dropout, however, it is possible that recent symptoms are. The goal of this study was to examine this hypothesis. METHODS: In 12 disadvantaged high schools in Montreal (Canada), all students at least 14 years of age were first screened between 2012 and 2015 (Nscreened = 6,773). Students who dropped out of school afterward (according to school records) were then invited for interviews about their mental health in the past year. Also interviewed were matched controls with similar risk profiles but who remained in school, along with average not at-risk schoolmates (Ninterviewed = 545). Interviews were conducted by trained graduate students. RESULTS: Almost one dropout out of four had clinically significant depressive symptoms in the 3 months before leaving school. Adolescents with recent symptoms had an odd of dropping out more than twice as high as their peers without such symptoms (adjusted odds ratio = 2.17; 95% confidence interval = 1.14-4.12). In line with previous findings, adolescents who had recovered from earlier symptoms were not particularly at risk. CONCLUSIONS: These findings suggest that to improve disadvantaged youths' educational outcomes, investments in comprehensive mental health services are needed in schools struggling with high dropout rates, the very places where adolescents with unmet mental health needs tend to concentrate.


Asunto(s)
Depresión/diagnóstico , Instituciones Académicas , Abandono Escolar/estadística & datos numéricos , Adolescente , Depresión/psicología , Femenino , Humanos , Masculino , Tamizaje Masivo/métodos , Quebec , Factores de Riesgo , Abandono Escolar/psicología , Factores de Tiempo
13.
J Res Adolesc ; 27(3): 683-689, 2017 09.
Artículo en Inglés | MEDLINE | ID: mdl-28776844

RESUMEN

The Life Events and Difficulties Schedule (LEDS) is considered the standard for measuring psychosocial stressor exposure, but it has not been used with academically at-risk adolescents, including high school dropouts. The goal of this study was to (1) adapt the LEDS for use with this population, and (2) examine the reliability (interrater) and validity (concurrent and predictive) of this adaptation among a sample of vulnerable adolescents (N = 545). Good reliability coefficients (.79-.90) were obtained, and stressor exposure was associated with concurrent criteria indexing mental health outcomes (depression) and major risk factors for dropout (administratively recorded and self-reported). Also, LEDS scores predicted dropout beyond these risk factors. The adapted LEDS appears useful for describing academically struggling adolescents' stressor exposure.


Asunto(s)
Conducta del Adolescente/psicología , Acontecimientos que Cambian la Vida , Escalas de Valoración Psiquiátrica/normas , Abandono Escolar/psicología , Adolescente , Femenino , Humanos , Modelos Logísticos , Masculino , Reproducibilidad de los Resultados , Factores de Riesgo , Estrés Psicológico
14.
Dev Psychol ; 51(2): 197-210, 2015 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-25485607

RESUMEN

This study explored how nonpromotional school changes, a potentially major event for children, were associated with 3 forms of social maladjustment: isolation/withdrawal, affiliation with maladjusted peers, and aggression toward peers. Given that school mobility frequently co-occurs with family transitions, the moderating role of these transitions was investigated. These issues were examined in 2 longitudinal samples of U.S. (N = 1,364) and Canadian (N = 1,447) elementary school children. Propensity weighted analyses controlling for premobility individual, family, and friends' characteristics indicated that children who experienced both school and family transitions were at risk of either social withdrawal (in the Canadian sample) or affiliation with socially maladjusted peers (in the U.S. sample). These findings suggest the importance of considering both the social consequences of school mobility and the context in which such mobility occurs.


Asunto(s)
Agresión/psicología , Aislamiento Social/psicología , Adaptación Psicológica , Canadá , Niño , Preescolar , Humanos , Estudios Longitudinales , Grupo Paritario , Instituciones Académicas , Ajuste Social , Estados Unidos
15.
Prev Sci ; 15(2): 156-164, 2014 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-23543358

RESUMEN

This randomized study examined the effectiveness of a preschool stimulation program created to teach words that had been selected by considering the needs of the target population of children. Twenty-two educators and their group of at-risk preschoolers (N = 222, M age = 4.27 years) were assigned to one of two conditions: control or intervention. In the latter condition, educators had to read specifically developed storybooks to their group and conduct stimulation activities. Despite the training and support they received, educators implemented the intervention with varying degrees of fidelity. Nonetheless, intent-to-treat comparison of the two conditions indicates that children in the intervention condition learned the meaning of a much greater number of words than their peers in the control condition. In addition, efficacy subset analyses that took into account fidelity of implementation show that the greatest gains were made by children who had an educator who had implemented the intervention reliably. Strategies for scaling up the intervention and optimizing its implementation are discussed.


Asunto(s)
Conducta Infantil/psicología , Desarrollo Infantil , Lenguaje Infantil , Niños con Discapacidad/educación , Educación Especial/métodos , Vocabulario , Creación de Capacidad , Preescolar , Femenino , Humanos , Masculino , Evaluación de Programas y Proyectos de Salud , Factores de Riesgo , Análisis y Desempeño de Tareas
16.
Prev Sci ; 12(1): 70-9, 2011 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-20568012

RESUMEN

Students' inattention is predictive of reading problems and of non-response to effective reading intervention. In this randomized study, 58 first-grade classrooms located in 30 schools were assigned to a control condition or to one of two intervention conditions. In these last two conditions, peer-tutoring activities were conducted to improve classroom reading instruction. In one of the intervention conditions, the Good Behavior Game was also implemented to maximize students' attention during reading lessons. Both interventions were effective: peer-tutoring activities helped students improve their reading skills and attention was generally higher when the Good Behavior Game was implemented. Contrary to expectations however, students identified as inattentive at pretest did not become better readers when the two interventions were implemented.


Asunto(s)
Atención , Pobreza , Niño , Humanos , Grupo Paritario , Quebec
17.
Dev Psychol ; 46(5): 1227-44, 2010 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-20822235

RESUMEN

The goal of this study was to examine the mechanisms underlying associations between neighborhood socioeconomic advantage and children's achievement trajectories between ages 54 months and 15 years. Results of hierarchical linear growth models based on a diverse sample of 1,364 children indicate that neighborhood socioeconomic advantage was nonlinearly associated with youths' initial vocabulary and reading scores, such that the presence of educated, affluent professionals in the neighborhood had a favorable association with children's achievement among those in less advantaged neighborhoods until it leveled off at moderate levels of advantage. A similar tendency was observed for math achievement. The quality of the home and child care environments as well as school advantage partially explained these associations. The findings suggest that multiple environments need to be considered simultaneously for understanding neighborhood-achievement links.


Asunto(s)
Logro , Cuidado del Niño/psicología , Familia , Características de la Residencia , Instituciones Académicas , Medio Social , Adolescente , Niño , Desarrollo Infantil , Preescolar , Economía , Femenino , Humanos , Modelos Lineales , Estudios Longitudinales , Masculino , Matemática , Dinámicas no Lineales , Valor Predictivo de las Pruebas , Lectura , Vocabulario
18.
Epidemiol Psichiatr Soc ; 19(1): 44-51, 2010.
Artículo en Inglés | MEDLINE | ID: mdl-20486423

RESUMEN

AIM: Instruments to measure the process--the daily activities of home care workers--have received little attention and may impede research in refining the active ingredients, the clientele best served and continuous quality improvement. We developed a decade ago in Quebec, Canada, a new daily contact log (relevé quotidien des contacts or RQC) that has now reached in practice 1 million entries. METHODS: Three features distinguish the RQC development, namely, practical ergonomics, a clear logic, and response categories easy to understand and retain. The instrument is filled following any 10-minute or more contact with or about the client, and covers the location, time and actors of the episode of care, and the nature of the intervention (crisis, representing, accompanying, discussing) in 10 areas (i.e. medication, daily living activities, housing, relationships, substance abuse, legal, etc.). Inter-rater agreement for each RQC response category and rater agreement with a criterion measure (coded vignettes) were evaluated. RESULTS: Kappa coefficients and intra-class correlation coefficients yielded results ranging from at least moderate to generally substantial agreement for all 77 response categories. CONCLUSIONS: The new RQC may support international studies of the implementation and application of various forms of intensive home care, refining its indications, and serves as a clinical and managerial tool to ensure quality of the interventions.


Asunto(s)
Manejo de Caso , Servicios Comunitarios de Salud Mental , Trastornos Mentales/terapia , Evaluación de Procesos y Resultados en Atención de Salud , Encuestas y Cuestionarios , Humanos , Evaluación de Programas y Proyectos de Salud , Quebec
19.
Plant Mol Biol ; 69(6): 675-84, 2009 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-19115045

RESUMEN

The eukaryotic DNA mismatch repair (MMR) system contributes to maintaining the fidelity of genetic information by correcting replication errors and preventing illegitimate recombination events. This study aimed to examine the function(s) of the Arabidopsis thaliana PMS1 gene (AtPMS1), one of three homologs of the bacterial MutL gene in plants. Two independent mutant alleles (Atpms1-1 and Atpms1-2) were obtained and one of these (Atpms1-1) was studied in detail. The mutant exhibited a reduction in seed set and a bias against the transmission of the mutant allele. Somatic recombination, both homologous and homeologous, was examined using a set of reporter constructs. Homologous recombination remained unchanged in the mutant while homeologous recombination was between 1.7- and 4.8-fold higher than in the wild type. This increase in homeologous recombination frequency was not correlated with the degree of sequence divergence. In RNAi lines, a range of increases in homeologous recombination were observed with two lines showing a 3.3-fold and a 3.6-fold increase. These results indicate that the AtPMS1 gene contributes to an antirecombination activity aimed at restricting recombination between diverged sequences.


Asunto(s)
Proteínas de Arabidopsis/genética , Arabidopsis/genética , Reparación del ADN/genética , Recombinación Genética/genética , Secuencia de Bases , Cruzamientos Genéticos , ADN Bacteriano/genética , Fertilidad/genética , Regulación de la Expresión Génica de las Plantas , Frecuencia de los Genes , Genotipo , Proteínas MutL , Mutagénesis Insercional , Mutación , Plantas Modificadas Genéticamente , Interferencia de ARN , Reacción en Cadena de la Polimerasa de Transcriptasa Inversa , Transcripción Genética
20.
Plant J ; 51(3): 431-40, 2007 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-17559505

RESUMEN

The eukaryotic DNA mismatch repair (MMR) system contributes to maintaining genome integrity and DNA sequence fidelity in at least two important ways: by correcting errors arising during DNA replication, and also by preventing recombination events between divergent sequences. This study aimed to investigate the role of one key MMR gene in recombination. We obtained a mutant line in which the AtMLH1 gene has been disrupted by the insertion of a T-DNA within the coding region. Transcript analysis indicated that no full-length transcript was produced in mutant plants. The loss of a functional AtMLH1 gene led to a significant reduction in fertility in both homozygotes and heterozygotes, and we observed a strong bias against transmission of the mutant allele. To investigate the role of AtMLH1 in mitotic recombination, the mutant was crossed to a series of recombination reporter lines. A strong decrease (72%) in the frequency of homologous recombination was observed in the mutant. However, the decline in recombination due to homeology was less severe in the Atmlh1 mutant than in a wild-type control. These data demonstrate a dual role for AtMLH1 in recombination: it is both required for recombination and acts to limit recombination between diverged sequences.


Asunto(s)
Adenosina Trifosfatasas/genética , Proteínas de Arabidopsis/genética , Arabidopsis/genética , Segregación Cromosómica , Mitosis/genética , Recombinación Genética , Análisis Mutacional de ADN , Fertilidad/genética , Prueba de Complementación Genética , Homólogo 1 de la Proteína MutL , Mutagénesis Insercional , Fenotipo
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