Modern Genetics Research Articles

CRISPR Technology Acts as a Dual-Purpose Tool in Pig Breeding: Enhancing Both Agricultural Productivity and Biomedical Applications

Pigs have long been integral to human society for their roles in agriculture and medicine. Consequently, there is an urgent need for genetic improvement of pigs to meet human dual needs for medicine and food. In agriculture, gene editing can improve productivity traits, such as growth rate and disease resistance, which could lower farming costs and benefit consumers through enhanced meat quality. In biomedical research, gene-edited pigs offer invaluable resources as disease models and in xenotransplantation, providing organs compatible with human physiology. Currently, with CRISPR technology, especially the CRISPR/Cas9 system emerging as a transformative force in modern genetics, pigs are not only sources of sustenance but also cornerstones of biomedical innovation. This review aims to summarize the applications of CRISPR/Cas9 technology in developing pigs that serve dual roles in agriculture and biomedical applications. Compared to ZFNs and TALENs, the CRISPR/Cas9 system offers several advantages, including higher efficiency, greater specificity, ease of design and implementation, and the capability to target multiple genes simultaneously, significantly streamlining the process of genetic modifications in complex genomes. Therefore, CRISPR technology supports the enhancement of traits beneficial for agricultural productivity and facilitates applications in medicine. Furthermore, we must acknowledge the inherent deficiencies and technical challenges of the CRISPR/Cas9 technology while also anticipating emerging technologies poised to surpass CRISPR/Cas9 as the next milestones in gene editing. We hypothesize that with the continuous advancements in gene editing technologies and successful integration of traits beneficial to both agricultural productivity and medical applications, the goal of developing dual-purpose pigs for both agricultural and medical use can ultimately be achieved.

Atulyagotreeya Vivaha: A scientific review and case series on non-consanguineous marriage

Atulya Gotra Vivaha (non-consanguineous marriages), emphasized in Ayurveda and supported by modern genetics, plays a crucial role in reducing the risk of congenital anomalies and genetic disorders. Ancient Ayurvedic texts, such as Acharya Charaka’s Atulyagotreeya Sharira Adhyaya, advocate marrying outside one's Gotra to prevent the inheritance of faulty genes and ensure healthier progeny. Modern science also confirms that consanguineous marriages increase the risk of autosomal recessive disorders like mental retardation and congenital anomalies. Despite these insights, cultural norms, ignorance, and lack of awareness drive individuals, especially in less-educated communities, to practice consanguineous marriages, risking the life and health of future generations. This review highlights the need for awareness and education regarding the risks of such unions. Promoting Atulya Gotra marriages can help reduce the burden of genetic disorders and protect every child's life, which is invaluable to the well-being of society.

Mendelism in the course of biology of the new ukrainian school

The article draws attention to the discrepancy between the teaching of Mendelism in the secondary school biology course and the level of modern genetics. It is pointed out the shift of emphasis in teaching the laws of inheritance and the simplified understanding of Mendelism by reducing it to three laws. The reason for this can be seen in the unjustified giving to the results obtained by Mendel in the genetic experiment, the status of laws, which, without taking into account modern scientific achievements, uncritically pass from textbook to textbook. It is pointed out the need in the new Ukrainian school, when teaching the basics of classical genetics, to take into account the latest achievements of genetics and suppress Mendelian results not as laws, but as data of a genetic experiment, which became the basis for a paradigm shift in the understanding of the phenomena of heredity – a transition from the idea of fused heredity to the theory of hereditary discreteness material. It is proposed to present Mendel’s achievements to students as one fundamental law of discreteness of heredity, which takes a worthy place in the series of ideas about the discreteness of matter and energy.

Social Background Effects on Educational Outcomes—New Insights from Modern Genetic Science

Sociological theory and empirical research have found that parents’ socioeconomic status and related resources affect their children’s educational outcomes. Findings from behavior genetics reveal genetic underpinnings of the intergenerational transmission of education, thus altering previous conclusions about purely environmental transmission mechanisms. In recent years, studies in molecular genetics have led to new insights. Genomic data, polygenic scores, and other facets of sociogenomics are increasingly used to advance research in social stratification. Notably, the 2018 discovery of “genetic nurture” suggested that parents’ genes influence children above and beyond the genes they directly transmitted to their children. Such indirect genetic effects can be interpreted as consequences of parental behavior, which is itself influenced by the parents’ genetics and is essential for their children’s environment. Indirect genetic effects fit hand in glove with the sociological literature because they represent environmental transmission mechanisms. For instance, parenting behaviors, which are partly influenced by parents’ genes, shape children’s home environments and possibly their later educational outcomes. However, current findings based on more sophisticated research designs demonstrate that “genetic nurture” effects are actually much smaller than initially assumed and hence call for a reevaluation of common narratives found in the social stratification literature. In this paper, we review recent developments and ongoing research integrating molecular genetics to study educational outcomes, and we discuss their implications for sociological stratification research.

Natural variations in MdNAC18 exert major genetic effect on apple fruit harvest date by regulating ethylene biosynthesis genes.

Dissecting the genetic control of apple fruit harvest date (AFHD) into multiple Mendelian factors poses a significant challenge in modern genetics. Here, a quantitative trait locus (QTL) for AFHD was fine-mapped to the NAC transcription factor (TF) MdNAC18 within the interval defined by the overlap of QTLs Z03.5/Z03.6 and F03.2/F03.3. One direct target of MdNAC18 is the ethylene biosynthesis gene MdACO1. The single nucleotide polymorphisms (SNPs) SNP517 and SNP958 in the MdNAC18 coding sequence modulated activation of MdACO1 by MdNAC18. SNP1229 in the MdACO1 promoter destroyed the MdNAC18 binding site and thus abolished MdNAC18 binding. SNP517 and SNP958 also affected MdNAC18 activation of the TF gene MdARF5; MdARF5 activates the ethylene biosynthesis gene MdACS1. SNP517 and SNP958 in MdNAC18, SNP1229 and SNP769 (linked to InDel62) in MdACO1, and InDel162 in MdACS1 constituted a genetic variation network. The genetic effect of this network on AFHD was estimated as 60.3 d, accounting for 52.6% of the phenotype variation of the training population. The joint effects of these polymorphisms increased the accuracy of a genomics-assisted prediction (GAP) model for AFHD (r = 0.7125). Together, our results suggest that genetic variation in MdNAC18 affects AFHD by modulating ethylene biosynthesis and provide an optimized GAP model for apple breeding.

Exploring the Genotype-Phenotype Correlations in a Child with Inherited Seizure and Thrombocytopenia by Digenic Network Analysis.

Understanding the correlation between genotype and phenotype remains challenging for modern genetics. Digenic network analysis may provide useful models for understanding complex phenotypes that traditional Mendelian monogenic models cannot explain. Clinical data, whole exome sequencing data, in silico, and machine learning analysis were combined to construct a digenic network that may help unveil the complex genotype-phenotype correlations in a child presenting with inherited seizures and thrombocytopenia. The proband inherited a maternal heterozygous missense variant in SCN1A (NM_001165963.4:c.2722G>A) and a paternal heterozygous missense variant in MYH9 (NM_002473.6:c.3323A>C). In silico analysis showed that these two variants may be pathogenic for inherited seizures and thrombocytopenia in the proband. Moreover, focusing on 230 epilepsy-associated genes and 35 thrombopoiesis genes, variant call format data of the proband were analyzed using machine learning tools (VarCoPP 2.0) and Digenic Effect predictor. A digenic network was constructed, and SCN1A and MYH9 were found to be core genes in the network. Further analysis showed that MYH9 might be a modifier of SCN1A, and the variant in MYH9 might not only influence the severity of SCN1A-related seizure but also lead to thrombocytopenia in the bone marrow. In addition, another eight variants might also be co-factors that account for the proband's complex phenotypes. Our data show that as a supplement to the traditional Mendelian monogenic model, digenic network analysis may provide reasonable models for the explanation of complex genotype-phenotype correlations.

Epilepsies with onset during the first year of life: A prospective study on syndromes, etiologies, and outcomes.

Infantile seizures cause great concern for both doctors and parents. In addition to modern neuroimaging and genetics, clinical tools helpful in predicting the course of the disease are needed. We prospectively studied the incidence, electroclinical characteristics and etiologies of epilepsy syndromes with onset before the age of 12 months and looked for prognostic determinants of outcome by age 24 months. From February 2017 through May 2019, we recruited all eligible infants diagnosed with epilepsy at our unit. Data on electroclinical studies, genetic investigations and drug response were gathered prospectively. The infants were given a structured neurological examination (Hammersmith Infantile Neurological examination [HINE] and Griffiths scales) at predetermined intervals until age 24 months at which age neurocognitive evaluation with Bayley scales was performed. Included were 60 infants (27 female). The mean onset age of epilepsy was 5.3 (±2.5 standard deviation) months. The incidence of epilepsy in the population-based cohort was 131 (95% confidence interval 99-172)/100 000. Epilepsy syndrome was identified in 80% and etiology in 58% of infants. Self-limited infantile epilepsy was the second most common syndrome (incidence 18/100 000) after infantile epileptic spasms syndrome. PRRT2 was the most common monogenic cause. At age 24 months, 37% of the infants had drug-resistant epilepsy (DRE) and half had a global developmental delay (GDD). Abnormal first HINE was the strongest predictor of GDD, followed by DRE and identified etiology. DRE was associated with structural etiology and GDD. Those with normal first HINE and good response to treatment had favorable outcomes, irrespective of the identified etiology. Our results support a high incidence of self-limited epilepsy in infancy and PRRT2 as the genetic cause in the first year of life. Notwithstanding the advances in etiological discovery, we want to highlight the importance of clinical evaluation as standardized neurological examination with HINE proved a valuable tool in prognostication. One in every 700-800 babies develop epilepsy within the first year after birth. Our study identified an epilepsy syndrome in 80% and the cause of epilepsy in 60% of the participants. By age 2 years, over one-third of the children still experienced seizures, and almost half faced significant developmental delay. Structural brain abnormalities increased the likelihood of difficult epilepsy and developmental challenges. Babies whose epilepsy was caused by a gene defect varied widely in development and response to medications. Babies with normal neurological examination at first visit, especially if their seizures stopped quickly, had favorable development.

Integrating Omics Approaches for Climate-Resilient Crops: A Comprehensive Review

Climate change is a looming threat to global agriculture, impacting temperature, rainfall patterns, pest dynamics, and soil quality. These challenges transcend numerous crops vital for global food security. Drought, soil acidity, and nutrient fluctuations induced by climate change impede crop productivity, necessitating the development of breeding strategies to produce climate-resilient varieties. This review delves into the integration of omics approaches, including genomics, transcriptomics, proteomics, and metabolomics, to bolster breeding programs across diverse crops. By harnessing high-throughput technologies, researchers gain insights into the genetic and molecular mechanisms underlying traits such as stress resistance, yield, and disease tolerance. The cultivation of elite cultivars with enhanced stress tolerance is paramount for sustainable agriculture in the face of climate change. Various breeding approaches, encompassing functional genomics and mutagenomics, are explored alongside the application of genome editing tools like CRISPR/Cas9 and TALEN for targeted trait enhancement. Through the integration of multi-omics data, novel genetic targets are unearthed, facilitating the development of crop varieties resilient to climate-induced stressors beyond maize. This review underscores the significance of multi-omics in crop breeding and highlights strides made toward climate-resilient crop production. Understanding crop responses to abiotic stresses induced by climate change is imperative for the development of resilient varieties. The integration of modern genetics into classical breeding methods aims to cultivate stress-resistant cultivars, mitigating food security risks. Multi-omics approaches play pivotal roles in unraveling crop performance and stress tolerance mechanisms under diverse environmental conditions. Moving forward, the integration of multi-omics approaches will pinpoint candidate genes and pathways, enabling precision breeding to enhance crop performance amidst changing climates. These endeavors will propel the advancement of climate-resilient crops, safeguarding global food security in the face of climate change's challenges.

Translation, validation, and comparison of genetic knowledge scales in Greek and German.

Introduction : Advances in biosciences have significantly expanded our knowledge and capabilities in medicine and technology. Genetic tests can now predict hereditary predisposition or susceptibility to diseases, while gene-editing tools like CRISPR/Cas enable easy repair of disease genes in both somatic and germline cells, ensuring permanent genome correction. Despite these advancements, there is a shortage of valid instruments for studying the knowledge about these technologies. To fill this gap, our study aims to translate and validate various scales to effectively measure the public's knowledge of genetics. Methods: A convenience sample of N = 567 (Germany n = 317, Greece n = 250) participants completed a Google Forms questionnaire between December 2022 and June 2023, which included the General Knowledge of Genes and Heredity (GKGH), Knowledge about Gene-Environment Interaction (KGEI), and Knowledge of Modern Genetics and Genomics (KMGG) questionnaires. Analyses included internal consistency, structural validity, construct validity, and retest reliability with a subset of n = 72 (DE) and n = 50 (GR). Correlation analyses and group differences were evaluated for gender, education, religiosity, age, prior experience with genetic testing, and preferences toward potential providers of genetic testing. This study used the STROBE checklist for reporting. Results: The GKGH exhibited low values in internal consistency and item analysis, along with a ceiling effect within the German group. However, it demonstrated good values in retest and construct validity. In the Greek group, all properties were highly satisfactory. The KMGG consistently displayed excellent properties across all analyses, whereas the KGEI only showed convincing results in construct validity and item analysis. Discussion: The GKGH and KMGG demonstrated strong psychometric properties with varying difficulty levels dependent on the sample, with the German sample demonstrating a notably higher understanding of genetic technologies. Despite displaying acceptable properties, the KGEI fell short of measuring what its title suggests. Participants' level of education showed a significant correlation with knowledge of genetic technologies, and only in the Greek sample did experiences with genetic tests influence knowledge. Preferences regarding availability of genetic testing are comparable between the two countries, with variations influenced by factors such as age, gender and religiosity.

CRISPR/Cas9 gene targeting plus nanopore DNA sequencing with the plasmid pBR322 in the classroom.

Both nanopore-based DNA sequencing and CRISPR/Cas-based gene editing represent groundbreaking innovations in molecular biology and genomics, offering unprecedented insights into and tools for working with genetic information. For students, reading, editing, and even writing DNA will be part of their everyday life. We have developed a laboratory procedure that includes (i) the biosynthesis of a guide RNA for, (ii) targeting Cas9 to specifically linearize the pBR322 plasmid, and (iii) the identification of the cutting site through nanopore DNA sequencing. The protocol is intentionally kept simple and requires neither living organisms nor biosafety laboratories. We divided the experimental procedures into separate activities to facilitate customization. Assuming access to a well-equipped molecular biology laboratory, an initial investment of approximately $2,700 is necessary. The material costs for each experiment group amount to around $130. Furthermore, we have developed a freely accessible website (https://dnalesen.hs-mittweida.de) for sequence read analysis and visualization, lowering the required computational skills to a minimum. For those with strong computational skills, we provide instructions for terminal-based data processing. With the presented activities, we aim to provide a hands-on experiment that engages students in modern molecular genetics and motivates them to discuss potential implications. The complete experiment can be accomplished within half a day and has been successfully implemented by us at high schools, in teacher training, and at universities. Our tip is to combine CRISPR/Cas gene targeting with nanopore-based DNA sequencing. As a tool, we provide a website that facilitates sequence data analysis and visualization.

Hourly Feeding Regime of Modern Genetics Lactating Sows: Enhancing Productive Performance, Welfare, and Piglet Growth in Smart Farm-Based Systems

Effective management of lactating sows significantly influences various aspects of swine production. This study compared the impact of an hourly feeding regime and a five-times-daily feeding regime on the productive performance, body condition, and welfare of lactating sows, as well as on the growth performance of their offspring. Twenty-eight lactating sows (Landrace × Yorkshire) were divided into two groups: Group 1 was fed five times a day, and Group 2 was fed according to an hourly regime. The data were analyzed using independent-samples T-tests and the Mann–Whitney U test using Statistical Analysis System (SAS, 2011, Version 9.3) software. An hourly feeding regime positively affected (p < 0.05) sows’ feed intake and body condition, significantly reducing the days from the weaning-to-estrus interval. Group 1 exhibited significantly higher (p < 0.05) reductions in backfat thickness (BFT) and body condition score (BCS) during the weaning period compared to Group 2. Additionally, significant differences (p < 0.05) were observed in regard to sow body weight loss, feed intake, piglet livability and mortality rate at weaning, sow index, and calculated milk yield. Feeding sows according to an hourly regime positively impacted their productive performance compared to those fed five times daily. No significant differences (p > 0.05) were recorded in regard to the total number of piglets born, live births, mummified piglets, stillbirths, piglet mortality, litter size at weaning, and sow feed conversion ratio (FCR). However, the number of piglets weaned per sow per year (PSY) was numerically higher in Group 2 (p > 0.05). The piglets from Group 2 had significantly higher (p < 0.05) weaning weights and exhibited lower feed intake, greater weight gain, improved average daily gain, and greater litter size weight gain than those from Group 1. Statistically, sows from Group 2 exhibited a higher frequency of standing (p < 0.05), which potentially contributed to the reduction in shoulder skin lesions in sows (p > 0.05). In conclusion, an hourly feeding regime could optimize sow productive performance, body condition, milk yield, welfare, and piglet growth in swine production.

PSI-9 Relationship of body condition measures and boar reproductive performance

Abstract In the swine industry, boar nutritional requirements are not well characterized; thus, boars are typically fed to maintain a specific body condition score (BCS). Assessing body condition with subjective scoring can lead to over or underfeeding, which may have repercussions on sperm production and(or) quality. There are objective tools to assess body condition in live boars, like backfat (BF) thickness measured with real-time ultrasound, the Knauer caliper, and flank-to-flank (F2F) length. The relationship of sperm production and quality with BCS has not been reported in modern genetics and modern boar studs. The purpose of this study was to evaluate the relationship of body condition measures with boar reproductive performance. Data collected in March 2023 on commercial boars (n = 147) included a BCS ranging from 2.25 to 3.5, ultrasound backfat (13.7 ± 4.37 mm) performed by a trained technician, body weight (BW; 222 ± 30.2 kg) estimated using heart girth and body length from poll to tailhead, F2F length (106.03 ± 5.94 cm) and Knauer caliper score (17.5 ± 2.37). Additional variables considered were boar genetic line, age, and collection frequency. Sperm production data (total motility, 92.1 ± 7.22%; concentration, 36.7 ± 12.10 mil/mL; ejaculate volume, 231.1 ± 73.72 mL; normal cells, 83.4 ± 11.27%) were obtained from the six collections immediately prior to body condition evaluation. Data were evaluated with the glmmTMB package of R Statistical Software using a generalized linear mixed model. There were no significant relationships between motility or ejaculate volume and boar body condition. Backfat depth was related to percentage of normal cells (P = 0.029) and inversely related to sperm concentration (P = 0.035). There was a tendency for boars with greater F2F to have greater sperm concentration (P = 0.090). Generally, the percentage of normal cells decreased with increasing BCS, though due to the low number of observations in the lower categories, only BCS 3.25 and BCS 3.5 boars were found to have a significant relationship with the trait (P = 0.004 and P = 0.022, respectively). Caliper measure was not related with any sperm parameters. While accessible tools are necessary for consistent management of boars, BF thickness measured by ultrasound was the only objective tool in this study with a significant relationship to any sperm parameters assessed. Measuring BF with ultrasound may not be practical for everyday use. More research should be done to further assess body condition measurements, objective measuring tools, and boar sperm production.

286 Impact of feeding strategies on bodyweight and body condition in mature AI boars

Abstract The objective of this experiment was to determine how varying feeding strategies for boars impacts body weight (BW), backfat depth, loin muscle depth, Knauer caliper measurements, flank to flank tape measurement, body condition score (BCS), and scrotal width and length. This experiment was conducted over two 9-wk periods. Boars were weighed and measurements were taken every 3 wk during the study. Boars (n = 28; Acuity and Topig Norvsin) from two age groups (9 and 15 mo) and two genetic lines (maternal and terminal) were used during this experiment. Boars were blocked by breed and age and randomly allocated to receive one of the three feed intake (FI) levels of a corn-soybean meal-based diet (met NRC 2012 nutrient requirements) using the NRC (2012) maintenance equation [ME for maintenance = (100*kg BW0.75) + 15 kcal for sperm production]. Treatments were: HIGH (150% of maintenance, n = 9), MAIN (100% of maintenance, n = 10), LOW (80% of maintenance, n = 9) for the first 9-wk period. During the second 9-wk period remaining HIGH and LOW boars were crossed-over to opposite treatments (HIGH-LOW, n = 9; LOW-HIGH, n = 7) and maintenance remained unchanged (MAIN-MAIN, n = 8). Data were analyzed using PROC MIXED in SAS 9.4. Boar was the experimental unit with main effects of feed intake and age, and week serving as a repeated measure. Significance was determined at P < 0.05 and a trend at 0.05 < P ≤ 0.10. Three-way interactions of FI*Age*Week were observed during the first 9-wk period. Young boars fed HIGH had a greater increase in BW (P = 0.002), caliper (P = 0.011), backfat depth (P = 0.003), BCS (P = 0.003), and scrotal width (P = 0.004) than old boars fed HIGH and young boars fed LOW had a greater reduction in these variables then old LOW boars. Boars fed LOW for the first 9-wk period had reduced scrotal length (P = 0.004), greater reduction in BW change (P < 0.001), and reduced tape change (P = 0.021) compared with HIGH and MAIN fed boars. Two-way interactions for the second 9-wk period were observed. HIGH-LOW fed boars had decreased BW (FI*Week; P < 0.001), tape (FI*Week; P = 0.019), caliper (FI*Week; P = 0.012), BCS (FI*Week; P < 0.001), and scrotal width (FI*Week; P = 0.047) while LOW-HIGH boars had increased measurements for these variables over time. Additional two-way interactions during the second 9-wk period included Tape (FI*Age; P = 0.046) and BCS (FI*Age; P = 0.028). Overall young boars had more adverse reactions to the varying feeding strategies than old boars, this included larger changes in BW and composition measures. Young and old boars fed MAIN level lost BW and condition indicating the equation for maintenance energy requirement is not accurate for modern genetics working boars. Future research is needed with varying ages and feed intakes in the boar stud to better understand the impacts of growth, development, and maintenance energy for the modern AI boar.

Confronting scientific racism in psychology: Lessons from evolutionary biology and genetics.

Although the American Psychological Association has taken a strong antiracism stance, scientific racism continues to be published in psychology journals and scholarly books. Recent articles claim that the folk categories of race are genetically meaningful divisions and that evolved genetic differences among races and nations are important for explaining immutable differences in cognitive ability, educational attainment, crime, sexual behavior, and wealth; all claims that are opposed by a strong scientific consensus to the contrary. These claims remain a serious source of harm through the naturalization of inequality and through support for the work of racial extremists. Contemporary "racial hereditarian research" claims to rest on modern genetics and evolutionary biology and to draw on their methods, such as genome-wide association studies. These new arguments fail to meet the evidentiary and ethical standards of these disciplines for the study of human variation. If psychology adopted standards from genetics and evolutionary biology, the current racial hereditarian work would be ineligible for publication. Actions that the American Psychological Association can take to deal with scientific racism are described. (PsycInfo Database Record (c) 2024 APA, all rights reserved).

Scientific clickbait: Examining media coverage and readability in genome-wide association research.

In the present study, we analyzed a large corpus of English-language online media articles covering genome-wide association studies (GWAS), exemplifying the use of computational methods to study science communication in biological sciences. We analyzed trends in media coverage, readability, themes, and mentions of ethical and social issues, in over 5,000 websites published from 2005 to 2018 from 3,555 GWAS publications on 1,943 different traits, identified via GWAS Catalog using a text-mining approach to inform the discussion about genetic literacy and media coverage. We found that 22.9% of GWAS papers received media attention but most were described in language too complex to be understood by the public. Ethical issues are rarely mentioned and mentions of translation are increasing over time. We predicted media attention based on year of publication, number of genetic associations identified, study sample size, and journal impact factor, using a regression model (r2 = 38.7%). We found that chronotype, educational attainment, alcohol and coffee consumption, sexual orientation, tanning, and hair color received substantially more attention than predicted by the regression model. We also evaluated the prevalence of the clickbait "one gene, one disease" headlines (e.g., "Scientists Say They've Found Gene That Causes Breast Cancer") and found that it is declining. In sum, online media coverage of GWAS should be more accessible, introduce more modern genetics terms, and when appropriate, ELSI should be mentioned. Science communication research can benefit from big data and text-mining techniques which allow us to study trends and changes in coverage trends across thousands of media outlets. Results can be explored interactively in a website we have built for this manuscript: https://jjmorosoli.shinyapps.io/newas/.

The species problem in Artemia Leach, 1819 (Crustacea: Anostraca), a genus with sexual species and obligate parthenogenetic lineages

Abstract Parthenogenesis is an asexual reproduction mode characterized by the development of a female oocyte without fertilization. From an evolutionary perspective, parthenogenesis seems less successful than the predominant sexual mode, though there are groups in which both reproductive types exist, an example of which is the genus Artemia Leach, 1819. This salt-tolerant crustacean inhabiting hypersaline environments contains regionally endemic sexual species and obligate parthenogenetic groups with different ploidy levels, collectively referred to as Artemia parthenogenetica. Here, we discuss the difficulties of using a common species concept in Artemia Leach, 1819. While sexual species are widespread and fit the Biological Species Concept (BSC), which emphasizes reproductive isolation to maintain species genetic integrity or cohesiveness, it does not apply to uniparental organisms originating from sexual species with major meiotic changes. We show that different ploidy levels of parthenogenetic Artemia groups with uniform nuclear gene pools are maternally independent genetic entities (or cohesive), collectively and wrongly referred to as Artemia parthenogenetica. Thus, we conclude that ‘Artemia parthenogenetica’ is an invalid nominal specific name. Additionally, parthenogenetic Artemia groups cannot be considered a form of Artemia species (A. urmiana and/or A. sinica). In conclusion, we recommend using the term ‘parthenogenetic lineage(s)’ instead of ‘parthenogenetic population(s)’ to describe asexual Artemia group(s), because in modern population genetics and systematics, the term ‘population’ refers to interbreeding individuals with sexual reproduction. Furthermore, it clarifies that parthenogenetic lineages of Artemia are native to Mediterranean biodiversity.

Modeling Cataract Surgery in Mice.

Cataract surgery (CS) is an effective treatment for cataracts, a major cause of visual disability worldwide. However, CS leads to ocular inflammation, and in the long term, it can result in posterior capsular opacification (PCO) and/or lens dislocation driven by the post-surgical overgrowth of lens epithelial cells (LECs) and their conversion to myofibroblasts and/or aberrant fiber cells. However, the molecular mechanisms by which CS results in inflammation and PCO are still obscure because most in vitro models do not recapitulate the wound healing response of LECs seen in vivo, while traditional animal models of cataract surgery, such as rabbits, do not allow the genetic manipulation of gene expression to test mechanisms. Recently, our laboratory and others have successfully used genetically modified mice to study the molecular mechanisms that drive the induction of proinflammatory signaling and LEC epithelial to mesenchymal transition, leading to new insight into PCO pathogenesis. Here, we report the established protocol for modeling cataract surgery in mice, which allows for robust transcriptional profiling of the response of LECs to lens fiber cell removal via RNAseq, the evaluation of protein expression by semi-quantitative immunofluorescence, and the use of modern mouse genetics tools to test the function of genes that are hypothesized to participate in the pathogenesis of acute sequelae like inflammation as well as the later conversion of LECs to myofibroblasts and/or aberrant lens fiber cells.

307 Hothog: a Smartphone Application to Support Environmental Management Decisions for Non-Pregnant and Gestating Sows

Abstract Several management practices and technologies have been developed to mitigate thermal stress in swine. However, recommended temperature thresholds for implementing thermal stress mitigation are variable and may not accurately reflect the thermal requirements of non-pregnant and gestating sows with modern genetics. Therefore, a tool to support environmental management decisions for non-pregnant and gestating sows was created. The decision support tool is based on several published works by our group that characterized responses of non-pregnant, mid-gestation, and late-gestation sows across a wide temperature range. Cool, comfortable, and warm ranges were identified based upon behavioral thermal preferendum, and physiological responses were used to determine mild, moderate, and severe heat stress thresholds. The inflection points of respiration rate and body temperature as a function of dry bulb temperature were used to establish heat stress thresholds by gestation stage. Non-pregnant, mid-gestation, and late-gestation sow mild heat stress thresholds differed (P < 0.05) and occurred at 25.5, 25.1, and 24.0 °C, respectively. Body temperature inflection points indicative of moderate heat stress differed by gestation stage (P < 0.05) and occurred at 28.1, 27.8, and 25.5 °C, respectively. Severe heat stress inflection points were lower (P < 0.05) for late-gestation sows (30.8 °C) but were similar for non-pregnant and mid-gestation sows (32.9 °C). Dewpoint influenced heat stress response for mid- and late-gestation sows (P < 0.05) but did not have an effect on non-pregnant sows (P > 0.05). Heat stress threshold data were integrated with behavioral thermal preferendum data. For non-pregnant and mid-gestation sows, similar (P > 0.05) cool (< 13.2°C) and comfortable (13.2 to 16.4°C) temperature ranges were observed. However, late-gestation sows had lower (P < 0.05) cool (< 12.6°C) and comfortable (12.6 to 15.6°C) temperature ranges relative to non-pregnant and mid-gestation sows. The dry bulb temperature (TDB) that non-pregnant, mid-gestation, and late-gestation sows found to be warm was estimated as TDB preference range < TDB < mild heat stress. The decision support tool was integrated into a smartphone application called HotHog. This smartphone application provides hourly and daily predictions of thermal comfort and stress in non-pregnant, mid-gestation, and late-gestation sows. Users can set geographical locations, either manually or by current location, for thermal index predictions. Additionally, hourly and daily precipitation, and temperature predictions are displayed for the selected location. Management observations and mitigation options, as well as expected physiological and behavioral changes, are provided for each thermal index category to help users identify stressed pigs and assist with management decisions. HotHog will support swine producers in making more informed decisions related to in-barn environmental management to reduce the negative effects of thermal stress on sows and their gestating offspring. Furthermore, the tool may be helpful for teaching thermal management to livestock technicians and students.

Innovations in Dairy Cattle Management: Enhancing Productivity and Environmental Sustainability

Abstract The dairy industry stands at the intersection of two critical global challenges: the need to meet rising demands for high-quality dairy products and the imperative to reduce its environmental impact. This study’s primary aim is to bridge the historical-to-modern gap in dairy cattle management practices and to provide a comprehensive perspective that encompasses the industry’s historical evolution and contemporary realities. It engages in a meticulous examination of the multifaceted dimensions of dairy cattle management, commencing with an exploration of historical methodologies and advancing into the realms of modern breeding and genetics, nutritional advancements, innovations in housing and welfare, environmental sustainability, and the integration of precision farming technologies. Throughout this research, there is an unwavering emphasis on the compelling necessity for sustainable and innovative approaches to confront prevailing challenges, particularly in domains such as animal health, welfare, and the reduction of the industry’s environmental footprint. The findings of this study shed light on the critical importance of adopting sustainable and inventive methodologies in the realm of dairy cattle management. It not only encourages cattle managers but deems it crucial for them to fuse historical practices with contemporary technologies, with a special focus on enhancing breeding strategies, refining precision farming techniques, and upholding principles of ecological responsibility. Paramount in these considerations are the promotion of animal welfare, the minimization of environmental impact, and the pursuit of heightened productivity, all of which are indispensable for the industry’s long-term sustainability. From a pragmatic standpoint, this research offers actionable recommendations for dairy farmers. For example, the implementation of sustainable practices holds the promise of not only enhancing economic viability but also of bringing the operations of dairy farms in alignment with societal expectations. These practices have the dual potential to amplify profitability while mitigating environmental repercussions, thereby fostering societal acceptance. While the study duly acknowledges the inherent limitations associated with the complex and multifaceted nature of the dairy industry, it confidently lays the foundation for prospective research endeavours. In conclusion, this research serves as a pivotal starting point for the advancement of dairy cattle management in terms of sustainability, economic viability, and societal alignment.

Mosaic loss of the Y chromosome in human neurodegenerative and oncological diseases.

The development of new biomarkers for prediction and early detection of human diseases, as well as for monitoring the response to therapy is one of the most relevant areas of modern human genetics and genomics. Until recently, it was believed that the function of human Y chromosome genes was limited to determining sex and controlling spermatogenesis. Thanks to occurance of large databases of the genome-wide association study (GWAS), there has been a transition to the use of large samples for analyzing genetic changes in both normal and pathological conditions. This has made it possible to assess the association of mosaic aneuploidy of the Y chromosome in somatic cells with a shorter lifespan in men compared to women. Based on data from the UK Biobank, an association was found between mosaic loss of the Y chromosome (mLOY) in peripheral blood leukocytes and the age of men over 70, as well as a number of oncological, cardiac, metabolic, neurodegenerative, and psychiatric diseases. As a result, mLOY in peripheral blood cells has been considered a potential marker of biological age in men and as a marker of certain age-related diseases. Currently, numerous associations have been identified between mLOY and genes based on GWAS and transcriptomes in affected tissues. However, the exact cause of mLOY and the impact and consequences of this phenomenon at the whole organism level have not been established. In particular, it is unclear whether aneuploidy of the Y chromosome in blood cells may affect the development of pathologies that manifest in other organs, such as the brain in Alzheimer's disease, or whether it is a neutral biomarker of general genomic instability. This review examines the main pathologies and genetic factors associated with mLOY, as well as the hypotheses regarding their interplay. Special attention is given to recent studies on mLOY in brain cells in Alzheimer's disease.