Search Results (42)

The family name Hay (plus associated spelling variants) is a prominent Anglo-Norman-in-origin surname that has been well-documented as a Scottish noble lineage since the 12th century CE. Their historical significance, linked to the rise in the Anglo-Norman era (1093–1286 CE) in Scotland, and the historical complexities of surname adoption post-Norman conquest of England, justifies the need for a comprehensive understanding of the genetic history of the Hay noble lineage. This study focuses on examining the patterns of paternal inheritance in lineages with the Hay surname. We conducted a comprehensive analysis of Y-chromosome data that is publicly available on the Family Tree DNA (FTDNA) platform, and specific FTDNA surname projects, as well as looking in more detail at three well-documented male-line descendants of William II de la HAYA, 1st of Erroll (d. 1201) that have been verified to a high degree of confidence. Our results reveal that all descendants of William II de la HAYA, 1st of Erroll (d. 1201) derive from the multigenerational Y-SNPs R1a-YP6500 (plus equivalent SNPs BY33394/FT2017) and R1a-FTT161. Furthermore, subclades of R1a-FTT161 have been identified that confirm direct male-line descent from two of William II de la HAYA’s sons. Subclade R1a-BY199342 (plus equivalents) confirms direct male-line descent from David de la HAYA, 2nd of Erroll (d. 1241), and subclade R1a-FTA7312 confirms direct male-line descent from Robert de la HAYA of Erroll. The result also confirms that the Hay noble lineage shares the Y-SNP R1a-YP4138 (estimated to have occurred in 832 CE) with several non-Hay test takers that have surnames of Norman origin, therefore providing further evidence to support the Norman origin hypothesis for these surnames. In addition to the identification of multigenerational Y-SNPs associated with documented Hay noblemen, this study has observed significant Y-DNA haplogroup diversity among males with the surname Hay (plus associated spelling variants: Hays, Haye, Hayes, Hey and Haya). Our results show that only 22% of the men sampled (n = 109) with the surname Hay (plus associated spelling variation) are descended from the 12th-century progenitor of the noble Hay lineage of Scotland. Therefore, this confirms that a significant proportion of males with the surname Hay do not descend from the noble progenitor of the Scottish Hay lineage of Erroll. Full article

Copy number variations (CNVs) affecting the chromosomal region 21q21.3–q22.13 are rare and have been increasingly associated with neurodevelopmental abnormalities and multisystemic manifestations. In this study, we aimed to characterize the clinical, genomic, and genotype–phenotype correlations of a Moroccan child carrying a de novo microdeletion in this region. Whole exome sequencing (WES) was performed using sequencing-by-synthesis technology on the GenoLab M platform, and CNV detection was achieved through the SeqOne platform. Variant interpretation was conducted using the Integrative Genomics Viewer (IGV), and a custom gene–phenotype heatmap was generated in R (ComplexHeatmap and pheatmap) based on OMIM, ClinVar, and DECIPHER databases to prioritize candidate genes within the deleted segment. The patient presented with global developmental delay, microcephaly, psychomotor and staturo-ponderal retardation, facial dysmorphism, epilepsy responsive to treatment, and cerebral anomalies, including passive biventricular hydrocephalus and diffuse cortical atrophy. WES-CNV analysis identified a heterozygous de novo microdeletion of approximately 8.2 Mb in 21q21.3–q22.13, encompassing 124 clinically relevant genes. Integrated analysis confirmed the pathogenicity of the deletion and highlighted genotype–phenotype correlations, particularly implicating dosage-sensitive genes such as SON and RUNX1. This case underlines the clinical utility of combining WES, CNV analysis, and phenotype-based bioinformatic tools for diagnosing complex microdeletion syndromes, contributes to understanding genotype–phenotype relationships in 21q21.3–q22.13 deletions, and supports improved clinical interpretation and patient management. Full article

Animal welfare assessments increasingly aim to quantify enclosure use and activity to support naturalistic behavior and improve Quality of Life (QoL). Traditionally, this is achieved through manual observations, which are time-consuming, subject to observer bias, and limited in temporal resolution due to short observation periods. Here, we compared manual tracking using ZooMonitor with automated pose estimation (SLEAP) in a mother–son pair of black-headed spider monkeys (Ateles fusciceps) at Aalborg Zoo. We collected manual observations on six non-consecutive days (median daily duration: 62 min, mean: 66 min, range: 52–90 min) and visualized this as spatial heatmaps. We applied pose estimation to the same video footage, tracking four body parts to generate corresponding heatmaps. Across most days, the methods showed strong agreement (overlap 83–99%, Pearson’s r = 0.93–1.00), with both highlighting core activity areas on the floor near the central climbing structures and by the door with feeding gutters. Both methods also produced comparable estimates of time spent being active, with no significant difference across days (p = 0.952). Our results demonstrate that computer vision technology can provide a reliable and scalable tool for monitoring enclosure use and activity, enhancing the efficiency and consistency of zoo-based welfare assessments while reducing reliance on labor-intensive manual observations. Full article

The eddy dissipation rate (EDR, or turbulence dissipation rate) is a crucial parameter in the study of the atmospheric boundary layer (ABL). However, the existing Doppler lidar-based estimates of EDR seldom offer long-term comparisons that span the entire ABL. Building upon prior research utilizing Doppler lidar wind-field data, we optimized the EDR retrieval algorithm using a genetic adaptive approach. The newly developed algorithm demonstrates enhanced accuracy in EDR estimation. The daily evolution of EDR reveals a distinct diurnal pattern in its variation. A detailed four consecutive days study of turbulence generated via low-level jets (LLJs) indicated that EDR driven by heat flux (~10⁻² m²/s³) is significantly stronger than that produced through wind shear (~10⁻³ m²/s³). Subsequently, we examined seasonal variations in EDR at different mixing layer heights (MLH, Zi): elevated EDR values in summer (~7 × 10⁻³ m²/s³ at 0.1Zi) contrasted with reduced levels in winter (~6 × 10⁻⁴ m²/s³ at 0.1Zi). In the early morning, EDR decreases with height for 1 magnitude, while in later stages, it remains relatively stable within 0.1 order of magnitude across 0.1Zi to 0.9Zi. Notably, the EDR during DJF exceeds that of MAM and SON in the afternoon. This suggests that ML turbulence is not solely dependent on surface fluxes (SHF + LHF) but may also be influenced by MLH. A lower MLH (smaller volume), even with reduced surface fluxes, could potentially result in a stronger EDR. Finally, we compared the evolution of the EDR and MLH in the boundary layer using Doppler lidar data from ARM sites and the PBL (Planetary Boundary Layer) Moving Active Profiling System (PBLMAPS) Airborne Doppler Lidar (ADL). The results show that the vertical wind data exhibit strong consistency (R = 0.96) when the ADL is positioned near ARM Southern Great Plains (SGP) sites C1 or E37. The ADL’s mobility and flexibility provide significant advantages for future field experiments, particularly in challenging environments such as mountainous or complex terrains. This study not only highlights the potential of utilizing Doppler lidar alone for EDR calculations but also extensively explores the development patterns of EDR within the ABL. Full article

As machine learning becomes more integrated into atmospheric science, XGBoost has gained popularity for its ability to assess the relative contributions of influencing factors in the atmospheric boundary layer height. To examine how these factors vary across seasons, a seasonal analysis is necessary. However, dividing data by season reduces the sample size, which can affect result reliability and complicate factor comparisons. To address these challenges, this study replaces default parameters with grid search optimization and incorporates cross-validation to mitigate dataset limitations. Using XGBoost with four years of data from the atmospheric radiation measurement (ARM) (Southern Great Plains (SGP) C1 site, cross-validation stabilizes correlation coefficient fluctuations from 0.3 to within 0.1. With optimized parameters, the R value can reach 0.81. Analysis of the C1 site reveals that the relative importance of different factors changes across seasons. Lower tropospheric stability (LTS, ~0.53) is the dominant factor at C1 throughout the year. However, during DJF, latent heat flux (LHF, 0.44) surpasses LTS (0.22). In SON, LTS (0.58) becomes more influential than LHF (0.18). Further comparisons among the four long-term SGP sites (C1, E32, E37, and E39) show seasonal variations in relative importance. Notably, during JJA, the differences in the relative importance of the three factors across all sites are lower than in other seasons. This suggests that boundary layer development in the summer is not dominated by a single factor, reflecting a more intricate process likely influenced by seasonal conditions such as enhanced convective activity, higher temperatures, and humidity, which collectively contribute to a balanced distribution of parameter impacts. Furthermore, the relative importance of LTS gradually increases from morning to noon, indicating that LTS becomes more significant as the boundary layer approaches its maximum height. Consequently, the LTS in the early morning in autumn exhibits greater relative importance compared to other seasons. This reflects a faster development of the mixing layer height (MLH) in autumn, suggesting that it is easier to retrieve the MLH from the previous day during this period. The findings enhance understanding of boundary layer evolution and contribute to improved boundary layer parameterization. Full article

RAS mutations occur in about 30% of human cancers, leading to enhanced RAS signaling and tumor growth. KRAS is the most commonly mutated oncogene in human tumors, especially lung, pancreatic, and colorectal cancers. Direct targeting of KRAS is difficult due to its highly conserved sequence; but, its complex with the guanine nucleotide exchange factor Son of Sevenless (SOS) 1 promises an attractive target for inhibiting RAS-mediated signaling. Here, we first revealed putative allosteric binding sites of the SOS1, KRASG12C-SOS1 complex, and the ternary KRASG13D-SOS1 complex structures using two network-based models, the essential site scanning analysis and the residue interaction network model. The results enabled us to identify two new putative allosteric pockets for the ternary KRASG13D-SOS1 complex. These were then screened together with the known ligand binding site against the natural compounds in the InterBioScreen (IBS) database using the Glide software package developed by Schrödinger, Inc. The docking poses of seven hit compounds were assessed using 400 ns long molecular dynamics (MD) simulations with two independent replicas using Desmond, coupled with thermal MM-GBSA calculations for the estimation of the binding free energy values. The structural skeleton of the seven proposed compounds consists of different functional groups and heterocyclic rings that possess anti-cancer activity and exhibit persistent interactions with key residues in binding pockets throughout the MD simulations. STOCK1N-09823 was determined as the most promising hit that promoted the disruption of the interactions R73 (chain A)/N879 and R73 (chain A)/Y884, which are key for SOS1-mediated KRAS activation. Full article

This study aims to investigate the gap in perceptions of parents and children on the use of videogames in childhood. Methods: A survey was conducted with 75 pairs formed by a son or daughter and one parent. The data collected contradict the prejudice that playing video games reduces study time and leads to lower grades at school (R < 0.13). Our results support the idea that playing together fosters bonding and facilitates conversation. The impact of videogames on mood showed the most substantial differences in perception, with parents mainly reporting negative mood changes, while children reported similar frequencies of negative, neutral, and positive ones. In relation to the educational and informative potential of videogames, children had slightly more positive opinions than their parents (p < 0.001). Finally, more than half of the participants potentially agreed with the possibility of using videogames as academic tools. In conclusion, there is a gap between parents’ and children’s perceptions about videogaming, especially concerning their effects on children’s mood. Playing together and developing deeper knowledge about videogames could enhance positive effects on children’s development as well as their relationships with peers, parents, and at school. Full article

Background: The epithelial-to-mesenchymal transition (EMT) is a common feature in early cancer invasion. Increased vimentin is a canonical marker of the EMT; however, the role of vimentin in EMT remains unknown. Methods: To clarify this, we induced EMT in lung cancer cells with TGF-β1, followed by treatment with the vimentin-targeting drug ALD-R491, live-cell imaging, and quantitative proteomics. Results: We identified 838 proteins in the intermediate filament fraction of cells. TGF-β1 treatment increased the proportion of vimentin in this fraction and the levels of 24 proteins. Variants of fibronectin showed the most pronounced increase (137-fold), followed by regulators of the cytoskeleton, cell motility, and division, such as the mRNA-splicing protein SON. TGF-β1 increased cell spreading and cell migration speed, and changed a positive correlation between cell migration speed and persistence to negative. ALD-R491 reversed these mesenchymal phenotypes to epithelial and the binding of RNA-binding proteins, including SON. Conclusions: These findings present many new interactors of intermediate filaments, describe how EMT and vimentin filament dynamics influence the intermediate filament interactome, and present ALD-R491 as a possible EMT-inhibitor. The observations support the hypothesis that the dynamic turnover of vimentin filaments and their interacting proteins govern mesenchymal cell migration, EMT, cell invasion, and cancer metastasis. Full article

Non-destructive testing (NDT) techniques are crucial in making informed decisions about reconstructing or repairing building structures. The SonReb method, a combination of the rebound hammer (RH) and the ultrasonic pulse velocity (UPV) tests, is widely used for this purpose. To evaluate the compressive strength, $CS$, of the concrete under investigation, the ultrasonic pulse velocity $V_p$ and the rebound index R must be mapped to the compressive strength $CS$ using a suitable conversion model, the identification of which requires supplementing the NDT measurements with destructive-type measurements (DT) on a relatively large number of concrete cores. An approach notably indicated in all cases where the minimization of the number of cores is essential is to employ a pre-existing conversion model, i.e., a model derived from previous studies conducted in the literature, which must be appropriately calibrated. In this paper, we investigate the performance of Gaussian process regression (GPR) in calibrating the pre-existing SonReb conversion models, exploiting their ability to handle nonlinearity and uncertainties. The numerical results obtained using experimental data collected from the literature show that GPR calibration is very effective, outperforming, in most cases, the standard multiplicative and additive techniques used to calibrate the SonReb models. Full article

The main objective of this study was to explore the dietary behaviors of parents and their adult children, focusing on patterns, potential intrinsic and extrinsic predictors of body mass, and determinants of becoming overweight. Non-probability, cross-sectional sampling was used to select participants from a university student population. Young adults (19–21 years of age, n = 144) and their parents were examined. The data of those family pairs with complete sets of results were used. Dietary patterns and physical activity were assessed with questionnaires (QEB and IPAQ), and body height, weight measurements, and body mass indexes were calculated. A cophylogenetic approach with tanglegrams and heatmaps was used to study patterns, while predictors of body mass index were identified using multiple linear regression, stepwise logistic regression, and mediation analysis procedures. Cophenetic statistics confirmed significant incongruence between fathers and sons, confirmed by Baker’s Gamma correlation (r_BG = 0.23, p = 0.021), and mothers and daughters (r_BG = 0.26, p = 0.030). The relationships between the dietary patterns of the fathers and daughters, as well as mothers and sons, were of medium strength (r_BG = 0.33, p = 0.032, r_BG = 0.43, p = 0.031; respectively). Most of the patterns were mixed. Fast food, fried meals, alcoholic drinks, energy drinks, and sweetened beverages were associated significantly with being overweight. Significant intrinsic predictors of excessive weight in young adults were sex (b = 2.31, p < 0.001), PA (b = −0.02, p < 0.001), and eating fermented milk and curd cheese (b = −0.55, p = 0.024), while extrinsic (parental) predictors included eating fast food and fried meals (b = −0.44, p = 0.049). Both physical activity and dietary behaviors independently determined the sons’ overweight status (b = −1.25, p = 0.008; b = −0.04, p < 0.001; respectively); while only PA did in daughters (b = −0.04, p < 0.001). No mediating effects of physical activity were observed. Adult children and parental dietary patterns were divergent, reflecting the influence of multiple factors on a child’s dietary habits. However, this divergence is moderated by sex. Reciprocal interactions between dietary intake—particularly positive dyads such as fruits and vegetables, fermented milk, and curd cheese—and physical activity significantly impacted children’s body mass index (BMI). The study of dietary patterns in conjunction with physical activity (both as independent determinants), particularly in relation to the link between overweight/obese children and overweight/obese parents, presents a separate challenge. Full article

This study analyzes the spatial distribution and trends in five extreme daily rainfall indices in the Uruguay River Basin (URB) from 1993 to 2022 using the Climate Hazards Group Infrared Precipitation with Stations (CHIRPS) dataset. The main findings reveal a predominantly positive trend in heavy precipitation (R95p) and extreme precipitation (R99p) events over the mid URB, while a negative trend is observed in the upper and low URB. Significant trends in the frequency of heavy and extreme rainfall were observed during autumn (MAM), with positive trends across most of the mid and upper URB and negative trends in the low URB. In the upper URB, negative trends in the frequency of extremes were also found during spring (SON) and summer (DJF). Overall, there was a reduction in the number of consecutive wet days (CWD), particularly significant in the upper URB and the northern half of the mid URB. Additionally, the upper URB experienced an overall increase in the duration of consecutive dry days (CDD). Full article

It is well-established that beige/brown adipose tissue can dissipate stored energy through thermogenesis; hence, the browning of white adipocytes (WAT) has garnered significant interest in contemporary research. Our preceding investigations have identified a marked downregulation of miR-889-3p concurrent with the natural maturation of brown adipose tissue. However, the specific role and underlying molecular mechanisms of miR-889-3p in the browning process of white adipose tissue warrant further elucidation. In this research, we initially delved into the potential role of miR-889-3p in preadipocyte growth via flow cytometry and CCK-8 assay, revealing that miR-889-3p can stimulate preadipocyte growth. To validate the potential contribution of miR-889-3p in the browning process of white adipose tissue, we established an in vitro rabbit white adipocyte browning induction, which exhibited a significant upregulation of miR-889-3p during the browning process. RT-qPCR and Western blot analysis indicated that miR-889-3p overexpression significantly amplified the mRNA levels of UCP1, PRDM16, and CIDEA, as well as UCP1 protein levels. Furthermore, miR-889-3p overexpression fostered intracellular triglyceride accumulation. Conversely, the downregulation of miR-889-3p hindered the browning of rabbit preadipocytes. Subsequently, based on target gene prediction and luciferase reporter gene determination, we demonstrated that miR-889-3p directly targets the 3′-UTR region of SON. Lastly, we observed that inhibiting SON could facilitate the browning of rabbit preadipocytes. In conclusion, our findings suggest that miR-889-3p facilitates the browning process of white adipocyte precursors by specifically targeting the SON gene. Full article

Accurate global monitoring of carbon dioxide (CO₂) is essential for understanding climate change and informing policy decisions. This study compares column-averaged dry-air mole fractions of CO₂ (XCO₂) between ACOS_L2_Lite_FP V9r for Japan’s Greenhouse Gases Observing Satellite (GOSAT), OCO-2_L2_Lite_FP V10r for the USA’s Orbiting Carbon Observatory-2 (OCO-2), and IAPCAS V2.0 for China’s Carbon Dioxide Observation Satellite (TANSAT) collectively referred to as GOT, with data from the Total Carbon Column Observing Network (TCCON). Our findings are as follows: (1) Significant data quantity differences exist between OCO-2 and the other satellites, with OCO-2 boasting a data volume 100 times greater. GOT shows the highest data volume between 30–45°N and 20–30°S, but data availability is notably lower near the equator. (2) XCO₂ from GOT exhibits similar seasonal variations, with lower concentrations during June, July, and August (JJA) (402.72–403.74 ppm) and higher concentrations during December, January, and February (DJF) (405.74–407.14 ppm). XCO₂ levels are higher in the Northern Hemisphere during March, April, and May (MAM) and DJF, while slightly lower during JJA and September, October, and November (SON). (3) The differences in XCO₂ (ΔXCO₂) reveal that ΔXCO₂ between OCO-2 and TANSAT are minor (−0.47 ± 0.28 ppm), whereas the most significant difference is observed between GOSAT and TANSAT (−1.13 ± 0.15 ppm). Minimal differences are seen in SON (with the biggest difference between GOSAT and TANSAT: −0.84 ± 0.12 ppm), while notable differences occur in DJF (with the biggest difference between GOSAT and TANSAT: −1.43 ± 0.17 ppm). Regarding latitudinal variations, distinctions between OCO-2 and TANSAT are most pronounced in JJA and SON. (4) Compared to TCCON, XCO₂ from GOT exhibits relatively high determination coefficients (R² > 0.8), with GOSAT having the highest root mean square error (RMSE = 1.226 ppm, <1.5 ppm), indicating a strong relationship between ground-based observed and retrieved values. This research contributes significantly to our understanding of the spatial characteristics of global XCO₂. Furthermore, it offers insights that can inform the analysis of differences in the inversion of carbon sources and sinks within assimilation systems when incorporating XCO₂ data from satellite observations. Full article

The hypothalamus is the body’s control coordinating center. It is responsible for maintaining the body’s homeostasis by directly influencing the autonomic nervous system or managing hormones. Beaked whales are the longest divers among cetaceans and their brains are rarely available for study. Complete hypothalamic samples from a female Cuvier’s beaked whale and a male Blainville’s beaked whale were processed to investigate the paraventricular (PVN) and supraoptic (SON) nuclei, using immunohistochemical staining against vasopressin. The PVN occupied the preoptic region, where it reached its maximum size, and then regressed in the anterior or suprachiasmatic region. The SON was located from the preoptic to the tuberal hypothalamic region, encompassing the optical structures. It was composed of a retrochiasmatic region (SONr), which bordered and infiltrated the optic tracts, and a principal region (SONp), positioned more medially and dorsally. A third vasopressin-positive nucleus was also detected, i.e., the suprachiasmatic nucleus (SCN), which marked the end of the SON. This is the first description of the aforementioned nuclei in beaked whales—and in any marine mammals—as well as their rostro-caudal extent and immunoreactivity. Moreover, the SCN has been recognized for the first time in any marine mammal species. Full article

Drk, a homologue of human GRB2 in Drosophila, receives signals from outside the cells through the interaction of its SH2 domain with the phospho-tyrosine residues in the intracellular regions of receptor tyrosine kinases (RTKs) such as Sevenless, and transduces the signals downstream through the association of its N- and C-terminal SH3 domains (Drk-NSH3 and Drk-CSH3, respectively) with proline-rich motifs (PRMs) in Son of Sevenless (Sos) or Daughter of Sevenless (Dos). Isolated Drk-NSH3 exhibits a conformational equilibrium between the folded and unfolded states, while Drk-CSH3 adopts only a folded confirmation. Drk interacts with PRMs of the PxxPxR motif in Sos and the PxxxRxxKP motif in Dos. Our previous study has shown that Drk-CSH3 can bind to Sos, but the interaction between Drk-NSH3 and Dos has not been investigated. To assess the affinities of both SH3 domains towards Sos and Dos, we conducted NMR titration experiments using peptides derived from Sos and Dos. Sos-S1 binds to Drk-NSH3 with the highest affinity, strongly suggesting that the Drk-Sos multivalent interaction is initiated by the binding of Sos-S1 and NSH3. Our results also revealed that the two Sos-derived PRMs clearly favour NSH3 for binding, whereas the two Dos-derived PRMs show almost similar affinity for NSH3 and CSH3. We have also performed docking simulations based on the chemical shift perturbations caused by the addition of Sos- and Dos-derived peptides. Finally, we discussed the various modes in the interactions of Drk with Sos/Dos. Full article