Partial duplication of the APBA2 gene in chromosome 15q13 corresponds to duplicon structures.

BackgroundChromosomal abnormalities affecting human chromosome 15q11-q13 underlie multiple genomic disorders caused by deletion, duplication and triplication of intervals in this region. These events are mediated by highly homologous segments of DNA, or duplicons, that facilitate mispairing and unequal cross-over in meiosis. The gene encoding an amyloid precursor protein-binding protein (APBA2) was previously mapped to the distal portion of the interval commonly deleted in Prader-Willi and Angelman syndromes and duplicated in cases of autism.ResultsWe show that this gene actually maps to a more telomeric location and is partially duplicated within the broader region. Two highly homologous copies of an interval containing a large 5' exon and downstream sequence are located approximately 5 Mb distal to the intact locus. The duplicated copies, containing the first coding exon of APBA2, can be distinguished by single nucleotide sequence differences and are transcriptionally inactive. Adjacent to APBA2 maps a gene termed KIAA0574. The protein encoded by this gene is weakly homologous to a protein termed X123 that in turn maps adjacent to APBA1 on 9q21.12; APBA1 is highly homologous to APBA2 in the C-terminal region and is distinguished from APBA2 by the N-terminal region encoded by this duplicated exon.ConclusionThe duplication of APBA2 sequences in this region adds to a complex picture of different low copy repeats present across this region and elsewhere on the chromosome

CRYOGENIC AND AMBIENT TENSILE AND COMPRESSION PROPERTIES OF HOT-PRESSED BLOCK BERYLLIUM.

The experiment was designed such that a statistical data analysis would produce an optimum amount of information. The results from the analysis were used to develop stress strain curves with 75%, 90%, 95%, and 99% tolerance limits and with a 90% confidence factor

Taking iRAT Outside The Classroom: Using an Interactive Book to Modify Team-Based Learning in a First-Year Programming Course

Team-Based Learning (TBL) is an evidence-based collaborative learning teaching strategy designed around units of instruction, known as “modules” that are taught in a three-step cycle: preparation, inclass readiness assurance test (RAT), and application-focused exercise. The in-class RAT includes two sub-tests; individual RAT (iRAT) and team RAT (tRAT). In first-year programming classes, the instructors rely on the mini-lecture to deliver advanced concepts or present a programming exercise to the students. Meanwhile, most of the class time is consumed by the iRAT, tRAT, and application-focused exercise. This paper sheds light on an attempt to modify the conventional TBL approach by taking the iRAT outside the classroom and exploit its time to extend the mini-lecture time. This modification is achieved by the aid of an interactive online book, which ensures that the students finished their reading assignments before the class. Hence, the interactive book can allow us to take the iRAT outside the classroom, which will save at least 20% of the class time. The proposed approach was implemented to a class of 165 students in Fall 2019 and 47 students in Spring 2020, and the preliminary results show that the students finish each class reading assignment with an average percentage of 87%

Antidepressant Use in the Elderly Is Associated With an Increased Risk of Dementia

A retrospective cohort study was conducted including 3688 patients age 60 years or older without dementia enrolled in a depression screening study in primary care clinics. Information on antidepressant use and incident dementia during follow-up was retrieved from electronic medical records. The Cox proportional hazard models were used to compare the risk for incident dementia among 5 participant groups: selective serotonin re-uptake inhibitors (SSRI) only, non-SSRI only (non-SSRI), mixed group of SSRI and non-SSRI, not on antidepressants but depressed, and not on antidepressants and not depressed. SSRI and non-SSRI users had significantly higher dementia risk than the nondepressed nonusers (hazard ratio [HR]=1.83, P=0.0025 for SSRI users and HR=1.50, P=0.004 for non-SSRI users). In addition, SSRIs users had significantly higher dementia risk than non-users with severe depression (HR=2.26, P=0.0005). Future research is needed to confirm our results in other populations and to explore potential mechanism underlying the observed association

“It Just Messes Your Mind”: U.S. International Students’ Perspectives of and Experiences with Academic Text Sourcing

This critical case study explored how six international students enrolled in two U.S. universities perceived and understood the concept of plagiarism. Through our participants’ stories, we challenged a system that insists on international students’ conformity, without adequate knowledge or training, to a U.S. or Western system of text borrowing and sourcing that may be different from what the students have learned in their home countries. Our study calls for educational rather than punitive means of addressing international students’ problems with crediting sources

Planting a Soft Skills Seed In a First-Year Introductory Programming Class Using Team-Based Learning

Today\u27s competitive global market demands that engineers possess soft skills in addition to technical skills. Currently, engineers learn leadership, teamwork, and management skills while working soft skills the hard way . In order to meet the demands of this changing world, engineering programs in different universities are challenged to come up with innovative ways to teach classes so that graduates are prepared to take on the challenges twenty-first-century engineers face. Team-Based Learning (TBL) is an advancing teaching pedagogy that shifts instruction from a traditional lecture-based teaching paradigm to a structured learning sequence. TBL has shown to be effective in student academic success and retention; however, it may also aid in the development of soft skills required for the industry. This study focuses on 165 students who were enrolled in a freshman-level programming course in the Fall 2019. The students were all asked voluntarily to fill a Soft Skills Survey in the second week of the semester that consisted of 38 questions evaluating various categories of soft skills. At the end of the semester, the same survey was given and both were used to evaluate the effectiveness of TBL on students\u27 soft skills. The conducted survey is designed to assess five overarching factors within the TBL framework: The first is how group work improves individual motivation; the second is how group work stimulates academic growth; the third is the individual student\u27s creative and critical thinking skills; the fourth is the value of group work for their overall education; the last is confidence in their own academic skills. Traditionally, the effectiveness of TBL has been assessed through grades and numeric measures of performance; however, TBL was designed to both enhance learning as well as team collaboration and critical thinking skills. These two surveys were conducted to assess the soft skills outcome gains. Preliminary results for this study showed modest gains in critical thinking and external motivation. The results show that using TBL will organically enhance the students\u27 soft skills

Coiled-coil domain containing 42 (Ccdc42) is necessary for proper sperm development and male fertility in the mouse

Spermiogenesis is the differentiation of spermatids into motile sperm consisting of a head and a tail. The head harbors a condensed elongated nucleus partially covered by the acrosome-acroplaxome complex. Defects in the acrosome-acroplaxome complex are associated with abnormalities in sperm head shaping. The head-tail coupling apparatus (HTCA), a complex structure consisting of two cylindrical microtubule-based centrioles and associated components, connects the tail or flagellum to the sperm head. Defects in the development of the HTCA cause sperm decapitation and disrupt sperm motility, two major contributors to male infertility. Here, we provide data indicating that mutations in the gene Coiled-coil domain containing 42 (Ccdc42) is associated with malformation of the mouse sperm flagella. In contrast to many other flagella and motile cilia genes, Ccdc42 expression is only observed in the brain and developing sperm. Male mice homozygous for a loss-of-function Ccdc42 allele (Ccdc42(KO)) display defects in the number and location of the HTCA, lack flagellated sperm, and are sterile. The testes enriched expression of Ccdc42 and lack of other phenotypes in mutant mice make it an ideal candidate for screening cases of azoospermia in humans

Mice with altered serotonin 2C receptor RNA editing display characteristics of Prader–Willi syndrome

RNA transcripts encoding the 2C-subtype of serotonin (5HT2C) receptor undergo up to five adenosine-to-inosine editing events to encode twenty-four protein isoforms. To examine the effects of altered 5HT2C editing in vivo, we generated mutant mice solely expressing the fully-edited (VGV) isoform of the receptor. Mutant animals present phenotypic characteristics of Prader-Willi Syndrome (PWS) including a failure to thrive, decreased somatic growth, neonatal muscular hypotonia, and reduced food consumption followed by post-weaning hyperphagia. Though previous studies have identified alterations in both 5HT2C receptor expression and 5HT2C-mediated behaviors in both PWS patients and mouse models of this disorder, to our knowledge the 5HT2C gene is the first locus outside the PWS imprinted region in which mutations can phenocopy numerous aspects of this syndrome. These results not only strengthen the link between the molecular etiology of PWS and altered 5HT2C expression, but also demonstrate the importance of normal patterns of 5HT2C RNA editing in vivo

Identification of Adropin as a Secreted Factor Linking Dietary Macronutrient Intake with Energy Homeostasis and Lipid Metabolism

Obesity and nutrient homeostasis are linked by mechanisms that are not fully elucidated. Here we describe a secreted protein, adropin, encoded by a gene, Energy Homeostasis Associated (Enho), expressed in liver and brain. Liver Enho expression is regulated by nutrition: lean C57BL/6J mice fed high-fat diet (HFD) exhibited a rapid increase, while fasting reduced expression compared to controls. However, liver Enho expression declines with diet-induced obesity (DIO) associated with 3 months of HFD or with genetically induced obesity, suggesting an association with metabolic disorders in the obese state. In DIO mice, transgenic overexpression or systemic adropin treatment attenuated hepatosteatosis and insulin resistance independently of effects on adiposity or food intake. Adropin regulated expression of hepatic lipogenic genes and adipose tissue peroxisome proliferator-activated receptor gamma, a major regulator of lipogenesis. Adropin may therefore be a factor governing glucose and lipid homeostasis, which protects against hepatosteatosis and hyperinsulinemia associated with obesity. © 2008 Elsevier Inc. All rights reserved