Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus.

Both obesity and being underweight have been associated with increased mortality. Underweight, defined as a body mass index (BMI) ≤ 18.5 kg per m(2) in adults and ≤ -2 standard deviations from the mean in children, is the main sign of a series of heterogeneous clinical conditions including failure to thrive, feeding and eating disorder and/or anorexia nervosa. In contrast to obesity, few genetic variants underlying these clinical conditions have been reported. We previously showed that hemizygosity of a ∼600-kilobase (kb) region on the short arm of chromosome 16 causes a highly penetrant form of obesity that is often associated with hyperphagia and intellectual disabilities. Here we show that the corresponding reciprocal duplication is associated with being underweight. We identified 138 duplication carriers (including 132 novel cases and 108 unrelated carriers) from individuals clinically referred for developmental or intellectual disabilities (DD/ID) or psychiatric disorders, or recruited from population-based cohorts. These carriers show significantly reduced postnatal weight and BMI. Half of the boys younger than five years are underweight with a probable diagnosis of failure to thrive, whereas adult duplication carriers have an 8.3-fold increased risk of being clinically underweight. We observe a trend towards increased severity in males, as well as a depletion of male carriers among non-medically ascertained cases. These features are associated with an unusually high frequency of selective and restrictive eating behaviours and a significant reduction in head circumference. Each of the observed phenotypes is the converse of one reported in carriers of deletions at this locus. The phenotypes correlate with changes in transcript levels for genes mapping within the duplication but not in flanking regions. The reciprocal impact of these 16p11.2 copy-number variants indicates that severe obesity and being underweight could have mirror aetiologies, possibly through contrasting effects on energy balance.

Somewhere between illusion of control and powerlessness : trying to situate the pathological gambler's locus of control

It has been suggested that pathological gamblers develop illusory perceptions of control regarding the outcome of the games and should express higher Internal and Chance locus of control. A sample of 48 outpatients diagnosed with pathological gambling disorder who participated in this ex post facto study, completed the Internality, Powerful Others, and Chance scale, the South Oaks Gambling Screen questionnaire, and the Beck Depression Inventory. Results for the locus of control measure were compared with a reference group. Pathological gamblers scored higher than the reference group on the Chance locus of control, which increased with the severity of cases. Moreover, Internal locus of control did show a curvilinear relationship with the severity of cases. Pathological gamblers have specific locus of control scores that vary in function of the severity, in a linear fashion or a non-linear fashion according to the scale. This effect might be caused by competition between "illusion of control" and the tendency to attribute adverse consequence of gambling to external causes.

Male-pattern baldness susceptibility locus at 20p11.

We conducted a genome-wide association study for androgenic alopecia in 1,125 men and identified a newly associated locus at chromosome 20p11.22, confirmed in three independent cohorts (n = 1,650; OR = 1.60, P = 1.1 x 10(-14) for rs1160312). The one man in seven who harbors risk alleles at both 20p11.22 and AR (encoding the androgen receptor) has a sevenfold-increased odds of androgenic alopecia (OR = 7.12, P = 3.7 x 10(-15)).

Development and evaluation of double locus sequence typing for molecular epidemiological investigations of Clostridium difficile.

Despite the development of novel typing methods based on whole genome sequencing, most laboratories still rely on classical molecular methods for outbreak investigation or surveillance. Reference methods for Clostridium difficile include ribotyping and pulsed-field gel electrophoresis, which are band-comparing methods often difficult to establish and which require reference strain collections. Here, we present the double locus sequence typing (DLST) scheme as a tool to analyse C. difficile isolates. Using a collection of clinical C. difficile isolates recovered during a 1-year period, we evaluated the performance of DLST and compared the results to multilocus sequence typing (MLST), a sequence-based method that has been used to study the structure of bacterial populations and highlight major clones. DLST had a higher discriminatory power compared to MLST (Simpson's index of diversity of 0.979 versus 0.965) and successfully identified all isolates of the study (100 % typeability). Previous studies showed that the discriminatory power of ribotyping was comparable to that of MLST; thus, DLST might be more discriminatory than ribotyping. DLST is easy to establish and provides several advantages, including absence of DNA extraction [polymerase chain reaction (PCR) is performed on colonies], no specific instrumentation, low cost and unambiguous definition of types. Moreover, the implementation of a DLST typing scheme on an Internet database, such as that previously done for Staphylococcus aureus and Pseudomonas aeruginosa ( http://www.dlst.org ), will allow users to easily obtain the DLST type by submitting directly sequencing files and will avoid problems associated with multiple databases.

An examination of the effects of locus of control on perceptions of core job dimensions and job satisfaction

This study examined the moderating effects of locus of control on core job dimensions (skill variety, task identity, task significance, autonomy, feedback) and job satisfaction. Survey data were collected from 1995 educators in Southern Ontario. When core job dimensions were perceived to be high, job satisfaction scores were high. The converse relationship was also true; when core job dimensions were perceived to be low, job satisfaction scores were also low. As well, the investigation explored the effect of educators' locus of control of reinforcement on the relationship between core job dimensions and job satisfaction. Internals (N = 483-486) perceived more skill variety, more task identity, more task significance, more autonomy, more feedback and greater job satisfaction than externals (N = 626-629). However, contrary to expectation, the correlations between specific core job dimensions namely autonomy and feedback, were not systematically greater for internals compared to externals. In addition the findings reported here suggest some appropriate directions and strategies for measuring and increasing job satisfaction among teachers.

A Study of role conflict, role ambiguity, locus of control, job satisfaction and participation in decision making among front-line vocational service workers for mentally retarded adults

This study was an investigation of individual and organizational factors, as perceived by front-line vocational service workers from Adult Rehabilitation Centres (ARC Industries) for mentally retarded adults. The specific variables which were measured included role conflict/role ambiguity (role factors), internal/external locus of control (individual differences), job satisfaction with work and supervision (job attitudes) and participation in deci~ion making (organizational factor). The exploration of these constructs was conducted by means of self-report questionnaires which were completed by sixty-nine out of a total of ninety front-line employees. The surveys were distributed in booklet form to nine distinct rehabilitation facilities from St. Catharines, West Lincoln, Greater Niagara, Port Colborne, WeIland, Fort Erie, Hamilton, Guelph and Brantford. The survey data was evaluated by the statisti.cal Package for the Social Sciences (SPSS) which used the Pearson Product Moment Correlation procedure and a compar~son of means test. A comparison of correlation coefficients test was also conducted. This statistical procedure was calculated mathematically. The results obtained from the statistical evaluation confirmed the prediction that self-reported measures of participation in decision making and satisfaction (work and supervision) would be negatively correlated with role conflict and role ambiguity. As well, the speculation that perceived satisfaction (work and supervision) would be positively correlated with participation in decision making was empirically supported. Internal and external locus of control did not contribute to a significant difference in r~sponses to role perceptions (conflict and ambiguity) , satisfaction (work and supervision) or the correlational relationship between participation in decision making and satisfaction (work and supervision). Overall, the findings from this study substantiated the importance of examining employee perceptions in the workplace and the interrelationships among individual and organizational variables. This research was considered a contribution to the general area of occupational stress and to the study of individuals in work organizations.

Co-operative education and the development of self-esteem, an internal locus of control and work habits

This study compared approximately 50 grade 12 students studying In th~ co-operative education mode with approximately 50 grade 12 students studying in a traditional English course. Measures of self-esteem, locus of control and work habits were compared before and at the conclusion of one semester's involvement in the different programs. Using Coopersmith's Self-Esteem Inventory, the students who had chosen to study in the co-operative education mode scored significantly higher than the students in the traditional course. At the end of the semester, the co-operative education students' scores remained significantly higher than the English students'. Although the test showed no sjgnifi~ant changes in self-esteem. anecdotal reports indicated that co-operative education students had increased self-esteem over the semester. No significant differences in locus of control were observed between the two groups at any time. Significant differences in work habits were observed. While both groups had the same number of absences and the same marks before taking these courses, students who were involved in co-operative education had significantly fewer absences and significantly higher marks than the students studying in the traditional course. Anecdotal reports also indicated an improv~ment in work habits for students who had been involved in co-operative education. Recommendations of the study are for further research to determine more exactly how self-esteem and work habits develop in co-operative education students. Also. students. parents, teachers. and administrators need to be made aware of the success of this program.

The Importance and achievement of work values and locus of control as factors in work motivation

The present research study examined the relationships in a work motivation context among perceived importance and achievement of work values, locus of control and internal work motivation. The congruence of a work value was considered to be the discrepancy between the importance of a work value and the perceived achievement of that value. The theoretical framework utilized was based on a self-perpetuating cycle of motivation which included the perceived importance and achievement of work values and internal work motivation as separate and distinct, yet interrelated factors. It was hypothesized that individuals who experienced high congruence of work values would experience higher levels of internal work motivation than individuals who had low congruence of work values. It was also hypothesized that individuals who had an internal locus of control would experience more internal work motivation individuals well, the and have higher congruence of work values than who had an external locus of control. As possibility of locus of control as a moderator between importance of work values and internal work motivation was explored. Survey data were collected from 184 managerial level employees of the XYZ company during an ongoing training session. The following instruments were employed to measure the variables: Elizur's (1984) Importance of Work Values, Hunt and Saul's (1985) Achievement of Work Values, Hatfield, Robinson and Huseman's (1975) Job Perception Scale, a modified version of Rotter's (1966) I-E Locus of Control Scale and the Internal Work Motivation Scale (Hackman & Oldham, 1980) which is a part of the Job Diagnostic Survey. The findings indicated that locus of control was not a significant factor in determining congruence between work values or internal work motivation for this sample. Furthermore, locus of control was also found not to be a moderator between the importance of work values and internal work motivation. All individuals in this study had relatively high levels of internal work motivation. However, individuals who had higher congruence of work values did have significantly higher internal work motivation than those who had low congruence of work values for a majority of the 21 values. This was particularly true for the intrinsic values which included responsibility, meaningfulness and use of abilities. In addition, the data were analysed into a hierarchy of needs to indicate possible organizational development or human resource development needs for the XYZ corporation.

Frequency-dependent selection at the amylase locus in Drosophila melanogaster

A. strain of Drosophila melanog-aster deficient in null amylase activity (Amylase ) was isolated from a wild null population of flies. The survivorship of Amylase homozygous flies is very low when the principal dietary carbohydrate source is starch. However, the survivorship of the null Amylase genotype is comparable to the wild type when the dietary starch is replaced by glucose. In addition, the null viability of the amylase-producing and Amylase strains is comparable v and very lm<] f on a medium with no carbohydrates . Furthermore, amylase-producing genotypes were shovm to excrete enzymatically active amylase protein into the food medium. The excreted amylase causes the external breakdown of dietary starch to sugar. These results led to the following null prediction: the viability of the A.mvlase genotype (fed on a starch rich diet) might increase in the presence of individuals which were amylase-producing. It was shown experimentally that such an increase in viability did in fact occur and that this increase v\Tas proportional to the number of mnylase..::producing fli.es present. These results provide a unique example of a non-"competi ti ve inter-genotype interaction, and one where the underlying physio~ logical and biochemical mechanism has been fully understood.

Organización del locus del complejo GH-PL en el mono araña (Atelesgeoffroyi)

Tesis (Maestria en Ciencias con Especialidad en Biología Molecular e Ingeniería Genetica) UANL

Evolución de las regiones intergénicas del locus GH-PL en los primates del viejo mundo

Tesis (Maestría en Ciencias con Especialidad en Biología Molecular e Ingeniería Genética) UANL

Estudio de las regiones intergénicas del Locus GH-PL en el chimpancé (Pan troglodytes)

Tesis (Maestría en Ciencias con Especialidad en Biología Molecular e Ingeniería Genética) UANL

Localización del locus de la enfermedad de Charcot-Marie-Tooth tipo1A : asociación de esta enfermedad con una duplicación de DNA

Tesis (Doctorado en Ciencias con Especialidad en Biología Molecular e Ingeniería Genética) UANL

Disección bioinformática y experimental de la fase de expansión del locus GH en primates.

Tesis (Doctorado en Ciencias con Orientación en Biología Molecular e Ingeniería Genética) UANL, 2012.

Expresión del locus GH en el ojo de primates superiores.

Tesis (Doctor en Ciencias con especialidad en Biología Molecular e Ingeniería Genética) UANL, 2014.