RNA-editing-mediated exon evolution

BACKGROUND: Alu retroelements are specific to primates and abundant in the human genome. Through mutations that create functional splice sites within intronic Alus, these elements can become new exons in a process denoted exonization. It was recently shown that Alu elements are also heavily changed by RNA editing in the human genome. RESULTS: Here we show that the human nuclear prelamin A recognition factor contains a primate-specific Alu-exon that exclusively depends on RNA editing for its exonization. We demonstrate that RNA editing regulates the exonization in a tissue-dependent manner, through both the creation of a functional AG 3' splice site, and alteration of functional exonic splicing enhancers within the exon. Furthermore, a premature stop codon within the Alu-exon is eliminated by an exceptionally efficient RNA editing event. The sequence surrounding this editing site is important not only for editing of that site but also for editing in other neighboring sites as well. CONCLUSION: Our results show that the abundant RNA editing of Alu sequences can be recruited as a mechanism supporting the birth of new exons in the human genome

Harmonizing Hearts with Many Voices – Analysis of Koolulam, a Mass-Singing Phenomenon, and its Contribution to Resiliency

Koolulam is a social musical initiative launched in 2017. The aim of Koolulam is to strengthen the fabric of society through mass singing - collaborative singing in large groups. This is the first study worldwide that examines this social musical phenomenon. The aim of the study to examine the profile of people who participate in Koolulam events and their motives for partaking in such an event, and to examine whether the social, communal and emotional characteristics of mass singing such as in a Koolulam event, include elements that may help strengthen the resilience of individuals in a group.  This study used a mixed method approach, combining quantitative and qualitative techniques. The data were collected through questionnaires answered by 914 participants. The findings indicate that Koolulam events are perceived as a unique phenomenon, different from other multi-participant events. The shared singing experience at these events has social, communal and emotional characteristics. Conclusions: The study shows that singing even one song in a large group consisting of a combination of different voice types, fosters harmony and tolerance among the different voices in the group

Using Unlabeled Information of Embryo Siblings from the Same Cohort Cycle to Enhance In Vitro Fertilization Implantation Prediction

Abstract High‐content time‐lapse embryo imaging assessed by machine learning is revolutionizing the field of in vitro fertilization (IVF). However, the vast majority of IVF embryos are not transferred to the uterus, and these masses of embryos with unknown implantation outcomes are ignored in current efforts that aim to predict implantation. Here, whether, and to what extent the information encoded within “sibling” embryos from the same IVF cohort contributes to the performance of machine learning‐based implantation prediction is explored. First, it is shown that the implantation outcome is correlated with attributes derived from the cohort siblings. Second, it is demonstrated that this unlabeled data boosts implantation prediction performance. Third, the cohort properties driving embryo prediction, especially those that rescued erroneous predictions, are characterized. The results suggest that predictive models for embryo implantation can benefit from the overlooked, widely available unlabeled data of sibling embryos by reducing the inherent noise of the individual transferred embryo

Identifying Cardiovascular Risk Profiles Clusters among Mediterranean Adolescents across Seven Countries

Cardiovascular diseases (CVDs) are the number one cause of death globally and are partially due to the inability to control modifiable lifestyle risk factors. The aim of this study was to analyze the profiles of adolescents from seven Mediterranean countries (Greece, Israel, Italy, Macedonia, Malta, Portugal, Spain) according to their modifiable lifestyle risk factors for CVD (overweight/obesity, physical activity, smoking, alcohol consumption). The sample consisted of 26,110 adolescents (52.3% girls) aged 11, 13, and 15 years who participated in the Health Behavior in School-aged Children (HBSC) survey in 2018 across the seven countries. Sociodemographic characteristics (sex, age, country of residence, socioeconomic status) and CVD modifiable lifestyle risk factors (overweight/obesity, physical activity, smoking, alcohol consumption) were recorded. A two-step cluster analysis, one-way analysis of variance, and chi-square test were performed. Four different cluster groups were identified: two low-risk groups (64.46%), with risk among those with low physical activity levels; moderate-risk group (14.83%), with two risk factors (unhealthy weight and low physical activity level); and a high-risk group (20.7%), which presented risk in all modifiable lifestyle risk factors. Older adolescents reported a higher likelihood of being in the high-risk group. Given that the adolescence period constitutes an important time for interventions aimed at CVD prevention, identifying profiles of moderate- and high-risk adolescents is crucial

Identifying cardiovascular risk profiles clusters among mediterranean adolescents across seven countries

Cardiovascular diseases (CVDs) are the number one cause of death globally and are partially due to the inability to control modifiable lifestyle risk factors. The aim of this study was to analyze the profiles of adolescents from seven Mediterranean countries (Greece, Israel, Italy, Macedonia, Malta, Portugal, Spain) according to their modifiable lifestyle risk factors for CVD (overweight/obesity, physical activity, smoking, alcohol consumption). The sample consisted of 26,110 adolescents (52.3% girls) aged 11, 13, and 15 years who participated in the Health Behavior in School-aged Children (HBSC) survey in 2018 across the seven countries. Sociodemographic characteristics (sex, age, country of residence, socioeconomic status) and CVD modifiable lifestyle risk factors (overweight/obesity, physical activity, smoking, alcohol consumption) were recorded. A two-step cluster analysis, one-way analysis of variance, and chi-square test were performed. Four different cluster groups were identified: two low-risk groups (64.46%), with risk among those with low physical activity levels; moderate-risk group (14.83%), with two risk factors (unhealthy weight and low physical activity level); and a high-risk group (20.7%), which presented risk in all modifiable lifestyle risk factors. Older adolescents reported a higher likelihood of being in the high-risk group. Given that the adolescence period constitutes an important time for interventions aimed at CVD prevention, identifying profiles of moderate- and high-risk adolescents is crucial