Hereditary Research Articles

Transgressive segregation and generation mean analysis reveal the gene action underlying the inheritance of drought tolerance in rice

Climate change, an effective driver of unprecedented seasonal droughts, is greatly affecting rice production in Africa by threatening food security and safety. Rice, one of the major staple crops on the continent, can save the situation through the development of drought-tolerant cultivars, presenting a major challenge for future rice improvement programs as drought is regarded as a critical limitation in rain-fed ecosystems. This study sought to understand the genetic basis and inheritance behind the expression of tolerance of rice breeding lines to drought-stress through generation mean analysis. To achieve these objectives, two drought-sensitive genotypes (Jasmine 85 and CRI-Agrarice) were crossed with a drought-tolerant genotype (APO) to develop six populations (F1, F2, BC1, BC2, P1 and P2) under screenhouse drought-stress and non-stress evaluation. Data were collected on grain yield and yield-related traits among which the generation mean analysis was conducted. At least one transgressive phenotype was produced in the F2 population for each trait whether there is a significant difference or not among the parental lines under drought-stress. Under non-stress conditions, there was a significance for all six types of gene action for days to flowering in both crosses. Among both crosses and water-regimes, additive x additive gene interaction was significant for most of the traits even though the scaling tests were not significant indicating the effectiveness of selection in early generations. Therefore, either forward breeding or backcross breeding can be adopted as breeding strategies for rapid improvement for these lines to drought tolerance.

A "poly-matter network" conception of biological inheritance.

Here we intend to shift the "DNA- and information-centric" conception of biological inheritance, with the accompanying exclusion of any non-DNA matter, to a "poly-matter network" framework which, in addition to DNA, considers the action of other cellular membranous constituents. These cellular structures, in particular organelles and plasma membranes, express "landscapes" of specific topologies at their surfaces, which may become altered in response to certain environmental factors. These so-called "membranous environmental landscapes" (MELs), which replicate by self-organization / autopoiesis rather than self-assembly, are transferred from donor to acceptor cells by various - vesicular and non-vesicular - mechanisms and exert novel features in the acceptor cells. The "DNA-centric" conception may be certainly explanatorily sufficient for the transfer of heritable phenotype variation to acceptor cells following the copying of DNA in donor cells and thereby for the phenomenon of biological inheritance of traits. However, it is not causally sufficient. With the observation of phenotype variation, as initially manifested during bacterial transformation, the impact of environmental factors, such as nutrition and stress, in the differential regulation of gene expression has been widely accepted and resulted in intense efforts to resolve the underlying epigenetic mechanisms. However, these are explained under a conceptual frame where the DNA (and associated proteins) are the only matter of inheritance. In contrast, it is our argumentation that inheritance can only be adequately understood as the transfer of DNA in concert with non-DNA matter in a "poly-matter network" conception. The adequate inclusion of the transfer of non-DNA matter is still a desideratum of future genetic research, which may pave the way for the experimental elucidation not only of how DNA and membrane matter act in concert to enable the inheritance of innate traits, but also whether they interact for that of acquired biological traits. Moreover, the "poly-matter network" conception may open new perspectives for an understanding of the pathogenesis of "common complex" diseases.

Genetic analysis of Vicia faba L.: Advancements, hereditary traits, and correlations in ‘Sakha 3’ × ‘Nubaria 3’

Genetic diversity, heritability, and genetic advance are crucial considerations in the field of plant breeding. This research aimed to evaluate these factors for traits related to yield in faba bean (Vicia faba L.), specifically focusing on the F3 and F4 generations resulting from the cross between ‘Sakha 3’ and ‘Nubaria 3’. In the initial season (2021/ 2022), 200 families from each F3 population were cultivated with specific spacing, and selection criteria included seed yield per plant (SYP) and the number of pods per plant (NPP). Top-performing plants were identified for the second cycle of pedigree selection. In the following season (2022/2023), the F4 families were arranged in a randomised complete block design. Traits like the number of branches per plant (NBP), NPP, SYP, and seed index (SI) showed substantial phenotypic and genotypic coefficients of variation, indicating their noteworthy variation. Phenotypic and genotypic correlation analyses showed positive associations between SYP and the NBP and NPP. Additionally, path coefficient analysis indicated that these traits had high positive direct effects on SYP. This research provides valuable insights into the genetic variability, heritability, and selection parameters for yield-related traits in faba bean, offering a foundation for future breeding programs aimed at improving yield and productivity.

Analyses of Wheat Resistance to Fusarium Head Blight Using Different Inoculation Methods

Fusarium head blight is a devastating wheat disease that causes yield reduction and mycotoxins contamination, leading to multiple negative consequences for the economy, health, and food safety. Despite the tremendous efforts that have been undertaken over the last several decades to harness the disease, the problem remains a challenging issue. Due to global warming, its impact has become increasingly severe in Baltic and Nordic countries. The improvement of wheat resistance is hampered by complicated genetic inheritance, the scarcity of adapted resistant breeding materials, and difficulties in obtaining accurate and reproducible data due to the high interaction and dependency of the disease development on the environment. In this study, the resistance of 335 genotypes, 9 of which were of exotic origin and the remainder of which were adapted to the environments of Lithuania, Latvia, Estonia, or Norway, was studied in 8 trials using spray and point inoculation with spore suspensions and grain spawn inoculation under field and/or greenhouse conditions. The best linear unbiased estimates (BLUEs) of each genotype within the individual trials and the adjusted means across the trials were determined to reduce the environmental effects. Genotypes that exhibited excellent Type I or Type II resistance and overall resistance were identified.

Familial Renal Glucosuria and Potential Pharmacogenetic Impact on SGLT2 Inhibitors.

Renal glucosuria is a rare inheritable trait caused by loss-of-function variants in the gene that encodes SGLT2 (i.e., SLC5A2). The genetics of renal glucosuria is poorly understood and even less is known on how loss-of-function variants in SLC5A2 may affect response to SGLT2 inhibitors, a new class of medication gaining popularity to treat diabetes by artificially inducing glucosuria. We used two biobanks that link genomic with electronic health record data to study the genetics of renal glucosuria. This included 245,394 participants enrolled in the All of Us (AoU) Research Program and 11,011 enrolled in Marshfield Clinic's Personalized Research Project (PMRP). Association studies in AoU and PMRP identified 10 variants that reached an experiment-wise Bonferroni threshold in either cohort, nine were novel. PMRP was further used as a recruitment source for a prospective SGLT2 pharmacogenetic trial. During a glucose tolerance test, the trial measured urine glucose concentrations in 15 SLC5A2 variant-positive individuals and 15 matched wild types with and without an SGLT2 inhibitor. This trial demonstrated that carriers of SLC5A2 risk variants may be more sensitive to SGLT2 inhibitors compared to wild types (P=0.075). Based on population data, 2% of an ethnically diverse population carry rare variants in SLC5A2 and are at risk for renal glucosuria. As a result, 2% of individuals being treated with SGLT2 inhibitors may respond differently to this new class of medication compared to the general population suggesting a larger investigation into SLC5A2 variants and SGLT2 inhibitors is needed.

A Rare Case of Homozygous Hemoglobin G-Philadelphia & Alpha Thalassemia

Abstract Introduction/Objective Hemoglobin (Hb) G-Philadelphia (GPh) is an alpha chain gene variant caused by a missense mutation resulting in a change from Glu to Asp at position 68. This change leads to alterations in the Hb structure and oxygen affinity. The mutation is inherited in an autosomal codominant pattern allowing for an asymptomatic carrier state. While the most common alpha chain variant, GPh heterozygosity is still infrequent, estimated at 1:5000 in African Americans. In African Americans, GPh is frequently linked to an alpha thalassemia deletion. On its own it is considered a benign variant that does not result in significant health issues. Homozygous HbGPh frequency is estimated at 1 in 25 million. Methods/Case Report A postpartum woman in her 4th decade of life was found to have a Hb of 10.8 and a mean corpuscular volume of 74. Initial work up included Hb electrophoresis that quantified HbA at 0%, Hb F at 0%, HbA2 at 0%, and 2 Hb variants representing 96.1% and 3.8% of the total globin. The major Hb variant migrated in the D or G position by alkaline and acid gel Hb electrophoresis. The minor variant was consistent with HbG2. Due to this abnormal Hb electrophoresis, a sample was sent out for a Hb evaluation reflexive cascade (HERC). HERC analysis by high-performance liquid chromatography and capillary gel electrophoresis found 99.9% of Hb consistent with the alpha chain variant HbG. Analysis of the alpha globin gene region revealed 2 copies of an alpha globin gene deletion that was interpreted as alpha-thal trait (-a/-a). This result is consistent with homozygous alpha-thal-2 and homozygous HbGPh (alpha^G/thal + alpha^G/thal). Results (if a Case Study enter NA) NA Conclusion Alpha^G/thal + alpha^G/thal presents a unique and complex challenge for diagnosis due to its rarity and because HbG2 is not always visualized by alkaline gel electrophoresis. The presence of a Hb G or D variant, a HbG2 variant, and the lack of both HbA and HbA2 are key electrophoretic findings. Clinically, alpha^G/thal + alpha^G/thal behaves essentially like a homozygous alpha-thal-2 trait with persistent microcytosis and erythrocytosis. Thus, co- inheritance of the alpha-thal trait will be suggested by a thalassemic complete blood count pattern.

Genetics, age, and diet influence gut bacterial communities and performance of black soldier fly larvae (Hermetia illucens)

BackgroundThe gut microbiota of black soldier fly larvae (BSFL, Hermetia illucens) play a crucial role in recycling various organic waste streams. This capability is linked to the presence of a potential common core microbiota in BSFL. However, subjective thresholds for defining core taxa and the difficulty of separating genetic and environmental influences have prevented a clear consensus in the literature. We analysed the gut bacterial communities of two genetically distinct BSF lines (wild type (WT) and lab-adapted line (LD)) raised on ten different diets based on common agricultural by-products and food waste in Southeast Asia.ResultsHigh-throughput 16S rRNA gene sequencing revealed that gut bacterial communities were significantly influenced by genetics (p = 0.001), diet (plant/meat-dominated; p = 0.001), larval age (p = 0.001), and the interactions between all three (p = 0.002). This led us to investigate both common core taxa and lineage-specific core taxa. At a strict > 97% prevalence threshold, four core taxa were identified: Providencia_A_732258, an unclassified genus within the family Enterococcaceae, Morganella, and Enterococcus_H_360604. A relaxed threshold (> 80% prevalence) extended the core to include other potential common core taxa such as Klebsiella, Proteus, and Scrofimicrobium. Our data suggest that Proteus, Scrofimicrobium, Corynebacterium, Vagococcus_B, Lysinibacillus_304693 (all LD), and Paenibacillus_J_366884 (WT) are lineage-specific rather than members of a common core (> 90% prevalence in either LD or WT, with prevalence significantly different between lines (p ≤ 0.05)). Positive correlations were observed between several core genera and larval performance in LD, typical of a highly optimized lab-adapted line. Interestingly, only members of the genus Providencia appeared to play a crucial role in most aspects of larval performance in both genetic lineages.ConclusionOur study demonstrates that the gut microbiota of BSFL is influenced by genetic factors, diet composition, larval age, and their interactions. We identified a distinct lineage-specific core microbiota, emphasizing genetic background’s role. Future studies should apply a standardized high prevalence threshold of at least > 90% unless there is a valid reason for relaxation or sample exclusion. The consistent association of Providencia spp. with larval performance across both genetic lines highlights their crucial role in the BSFL gut ecosystem.

Drought tolerance to overwatering, periodic underwatering and complete withholding of water in interior Douglas-fir seedlings

Seedlings of 95 greenhouse-grown interior Douglas-fir half-sibling families originating from four breeding zones were subject to overwatering and periodic underwatering and compared to an optimally watered control (15 per family = 1425 seedlings total). Averaged over all trees, annual height was reduced by 4% and 11% compared to controls for overwatering and periodic underwatering, respectively. Family overwatered seedling height was 135–75%, and underwatered height was 100–75% of their respective control heights. Shorter families under stress grew like their control compared to taller families, but this was reversed in taller families when the watering conditions were ideal. A survival analysis indicated that after 30–50 days without water, family survival varied from 25% to 90%, and most trees died after 60 days. The breeding zone had little effect on the tolerance to suboptimal water or survival during complete water withdrawal and did not interact with watering treatments. Family traits for tolerance to overwatering favoured root biomass, traits for underwatering favoured reduced stem biomass, especially in ratio to roots, and traits for survival favoured belowground biomass over aboveground biomass. No tradeoffs between tolerance to over- and underwatering were found. Some families did well in all three conditions and some in one or the other. The study results suggest that variation in family growth and survival to suboptimal watering partly relate to root and stem biomass partitioning in the interior Douglas-fir population of British Columbia.

Seed traits inheritance in Fagopyrum esculentum Moench. based on image analysis method.

Common buckwheat (Fagopyrum esculentum Moench.) is one of the most important orphan crops worldwide. Various research efforts have been done to improve cultivation methods to enhance important agronomic traits such as productivity and biotic/abiotic resistance. One important aspect is the seed trait, which has not been extensively studied due to the time-consuming and tedious nature of its examination. Despite this, understanding seed traits is crucial for meeting consumer needs and optimizing crop yields. Therefore, the aim of the study is to investigate the inheritance of common buckwheat seed traits-such as shape, size, and coat color-using an image-based approach. This method allows for the analysis of a large number of seeds with a level of accuracy and precision that was previously unattainable. The results indicate that seed coat color is inherited maternally. Notably, the parameters in size had substantial increases acting like overdominance. The number of seeds that were harvested from F1s of each cross differed a lot depending on the cross combinations and pin/thrum type. In addition, seed size had large reduction in F1s from the different seed-sized parents, especially in thrum type. These may show that there could be cross barriers. The results revealed trends of maternal inheritance for seed shape and coat color in buckwheat, an area that has not been extensively studied. These findings could support buckwheat breeding efforts, helping to address market needs and food demands in the face of significant climate change.

Genetic inheritance studies in rice (Oryza sativa L.) for grain protein, quality and yield

The present study was undertaken to investigate the genetic parameters of yield component and quality traits of the F3 population from BPT 5204 and JAK-686 cross in rice. High heritability and high genetic advance as a percentage of the mean were recorded for productive tillers per plant, grains per panicle, panicle length and grain yield per plant indicating the effectiveness of direct phenotypic selection for improvement of these traits. For traits such as grains per panicle, 1000 grain weight, amylose content and grain protein content, the magnitude of additive (d) effects surpassed dominance (h) gene effects. This implies that phenotypic selection using methods like pureline selection, mass selection would be beneficial. Gel consistency exhibited complimentary gene interaction. Furthermore, duplicate gene interaction was prevalent in traits like days to 50% flowering, productive tillers per plant, plant height, panicle length, grain yield per plant, kernel length, kernel breadth, and kernel L/B ratio, making selection in later generations more effective. The inheritance studies highlighted the importance of selecting desired recombinants from the segregating population to enhance rice quality as well as grain yield. Keywords: Rice, Grain protein content, Quality, Variability, Heritability, Gene action

6889 Potential Impact of Parental Origin of Inheritance in Presentation of Familial Partial Lipodystrophy

Abstract Disclosure: D. Gilio: None. M.C. Foss de Freitas: Advisory Board Member; Self; PTC Therapeutics. Speaker; Self; Amryt. O. Besci: None. M. Celik Guler: None. A. Neidert: None. I. Yildirim: None. B. Akinci: Advisory Board Member; Self; Amryt. Consulting Fee; Self; Regeneron Pharmaceuticals, Alnylam Pharmaceuticals, Amryt, AstraZeneca, Boehringer Ingelheim, Lilly, MSD, Novartis Pharmaceuticals, Novo Nordisk, Sanofi-Aventis, Servier, Third Rock Ventures. E.A. Oral: Advisory Board Member; Self; Amryt, Regeneron Pharmaceuticals. Consulting Fee; Self; Regeneron Pharmaceuticals, Amryt, Third Rock Ventures. Grant Recipient; Self; Regeneron Pharmaceuticals, Amryt. Research Investigator; Self; Novo Nordisk, Fractyl, Ionis Pharmaceuticals Inc., GI Dynamics, Rhythm Pharmaceuticals. Other; Self; Amryt. Background: Familial partial lipodystrophy Type 2 (FPLD2) caused by autosomal dominant LMNA variants is characterized by partial loss of subcutaneous adipose tissue in the limbs, trunk, and gluteal region with accumulation in other parts of the body, such as the face and neck. It is usually associated with different degrees of insulin resistance and hypertriglyceridemia and body composition patterns. We wanted to know the contributing factors for the different metabolic abnormalities and body composition presentations of FPLD2. We hypothesized that parental inheritance line may be a contributory factor to the expression of the metabolic phenotype and body composition characteristics. Methods: We retrospectively collected clinical data of 77 FPLD2 cases from the Divisions of Metabolism and Endocrinology of 3 different sites: the University of Michigan, the University of São Paulo and The Turkish Lipodystrophy Study Group (TuLip). We further selected 53 published cases curated from 15 studies in the literature. For inclusion of the studies, we used web search tools including PubMed, OMIM and Google Scholar. Only patients where we could assess the genetic inheritance were included in this study. Data collected included demographic information, medical history and laboratory results. Results: 79 patients inherited the LMNA variant from the mother (Group 1; 18 males and 61 females), and 51 patients inherited it from the father (Group 2; 14 males and 37 females). The median age at lipodystrophy diagnosis was lower in Group 1 than in Group 2. Diabetes was reported in more than half of the groups; however, the prevalence rates were not significantly different. The mean age (± SEM) at first diagnosis of diabetes was 30 ± 15 years in Group 1 and 32 ± 11 years in Group 2; the microvascular complications were present in 8 patients with diabetes in Group 1 (36.3%) and in 5 patients in Group 2 (23.8%). Both groups' mean triglycerides levels were >150 mg/dL, with a trend of higher triglycerides in Group 2 than in Group 1. Episodes of acute pancreatitis were identified in 9 patients (19.5%) of Group 1 and 10 patients (31.2%) of Group 2; however, patients in Group 1 showed 1.7 episodes of pancreatitis per person while Group 2 showed 8.1 episodes per person on average. The fatty liver disease was the most common liver abnormality identified and it seemed to be more frequent in Group 2 than in Group 1. There was no difference between the two groups in relation to the body mass index (BMI) and the ratio of percent fat mass of the trunk to percent fat mass of the legs (FMR); however, the DEXA (dual x-ray absorptiometry) showed a higher total fat mass in Group 1 compared to Group 2 (22.2 versus 17.3 Kg, p=0.040) in the presence of comparable total lean mass. Conclusion: Our data suggest that there is a difference in body fat mass according to the genetic inheritance, however the metabolic impact is not completely clear and require more detailed analysis. Presentation: 6/1/2024

8696 Whole Exome Sequence Analysis in a Naïve Cohort of Congenital Hypopituitarism in a Single Center

Abstract Disclosure: F.Q. Aratani: None. D.P. Di Matteo: None. I.P. de Magalhães: None. P. Frudit: None. L.S. Motomia: None. S.K. Beeby: None. L.R. Barros: None. D.D. Bissegatto: None. L.R. Carvalho: None. Background: Deficiency of one or more pituitary hormones is defined as hypopituitarism. In the literature, molecular diagnosis (MD) is defined in 12% by the Sanger sequencing and large scale sequencing increased this number to 15%. Aim: To perform whole exome sequencing (WES) in a cohort of patients with congenital hypopituitarism (CH) naïve to MD approach. Patients: Nine patients with CH followed in a single Brazilian tertiary center were included. Methods: Libraries were prepared with kits from Agilent and sequenced on Hi-Seq (Illumina). The variants were called following GATK best practices, using the Haplotypecaller and genome version hg38. They were classified in the Franklin by genoox (https://franklin.genoox.com/clinical-db/home). WES that did not pass the platform's initial quality control and variants that did not reach an adequate confidence level (low/medium confidence: VAF < 50%) were excluded. The remaining variants were classified according to ACMG criteria. Results: Three among 9 patients presented allelic variants and aredescribed here. Case 1: A 22-year-old female presented height of 143 cm (-3,13 SDS) at the first visit without signs of puberty, had delayed bone age (DBA), hypoplastic adenohypophysis, interrupted pituitary stalk (IPS) and ectopic neurohypophysis (ENH) at the magnetic resonance imaging (MRI). Hormonal profile showed low E2, GH, FSH and LH. Twoheterozygous missense variants in the ALMS1 gene (c.5450G>A : p.Arg1817GIn; and ALMS1:c.4225G>C: p.Ala1409Pro) were seen in the exome; both classified as VUS according to ACMG criteria. This allelic variant is related to Alstrom Syndrome. Case 2: A 7-year-old female presented with short stature and was diagnosed with GH followed by LH/FSH, TSH and ACTH deficiencies. At MRI presented IPS and ENH. A heterozygous variant in the PROK2 gene c.364C>T p.R122 with a premature stop codon and truncated protein was present and classified as probably pathogenic according to ACMG criteria. This variant was already described with hypogonadotropic hypogonadism (HH) with or without anosmia. Case3: A 15-year-old male was referred with growth hormone deficiency (GHD), DBA, and HH. Growth hormone replacement was started followed by testosterone. Despite delayed puberty, the testes were normal in size. WES showed a variant c.629G>A:p.Trp210*, in hemizygosity in IGSF1 gene and was classified as probably pathogenic according to ACMG criteria. Loss-of-function mutations in IGSF1 may cause an X-linked syndrome of central hypothyroidism, macroorchidism and delayed puberty (delayed rise of testosterone, but normal timing of testicular growth). Conclusion: WES in a cohort of patients with congenital hypopituitarism naïve to molecular diagnosis revealed 33% (3/9) with positive genetic findings, two of them with clinical significance and family segregation according to the genetic inheritance. Presentation: 6/3/2024

Exploitation of heterosis in chilli using genetic male sterile lines for red fruit yield with special reference to high rainfall conditions

High-quality red/dry chilli for spice, pharmaceutical and medicinal purposes is a major goal in chilli breeding. The male sterile lines have greater potential for the exploitation of heterosis in chilli to achieve this objective. Genetic male sterile lines with special traits like destalking and ability to withstand high rainfall were involved in heterosis breeding to identify hybrids for commercial and industrial purposes. Forty F1 hybrids were developed by crossing 4 diverse GMS lines with 10 testers using Line × Tester mating design to estimate heterosis, combing ability and gene action. The experiment involving 14 parents and 40 F1s, along with standard variety ‘CH-27’ was laid out in α-lattice square design in three replications during summer 2020 and 2021. The GMS lines MS 9-2 and MS 26-1 along with testers DPCh 10, VVG, DPCh 40 and Him Palam Mirch-2 showed significant GCA for marketable red/dry fruit yield and majority of their component traits. Ten F1 hybrids were identified with superiority for fruit yield based on mean performance, significant heterosis and SCA effects, providing an opportunity to utilize them in value-added products and dried spice purposes viz., MS 9-2 × HPM-2, MS 11-2 × DPCh 40, MS 9-2 × DPCh 40 and MS 9-2 × DPCh 101 with erect fruiting habit and that of MS 9-2 × DPCh 10, MS 26-1 × DPCh 10, MS 9-2 × PBC 535, MS 26-1 × VVG, MS 29-2 × DPCh 10 and MS 26-1 × DPCh 22- C with pendent fruits. The non-additive gene action was predominant in the expression of fruit yield, total red fruits/plant, oleoresin and capsanthin. A significant positive correlation among SCA, economic heterosis and per se performance is an indicative to identify superior hybrids. Multi-location testing of these hybrids shall pave way to exploit them commercially by making them available to the farmers.

The role of stigma on the pregnancy experiences of women with disabilities in Kathmandu: a qualitative study

Stigma impacts women with disabilities during their pregnancy experiences, specifically through its components; societal beliefs, stereotypes, and attitudes. Through an interpretivist approach, this study addressed how stigma’s components impact the pregnancy experiences of women with disabilities in Kathmandu, especially considering recent policy changes on Nepali disability healthcare. Twelve semi-structured interviews [SSIs] with women with physical or visual disabilities were conducted, with a supplementary focus group discussion [FGD] between mothers without disabilities. Through a Thematic Analysis, themes from the SSIs and FGD were identified. Societal beliefs on disability’s genetic inheritance, stereotypes that the women lack independence and the ability to give birth, and healthcare providers’ negative attitudes impacted the women with disabilities’ pregnancy experiences by socially alienating them. However, positive family attitudes and the women’s own self-empowered beliefs may indicate improvements from policy changes and a subsequent reduction of stigma.

Friend or foe: effects of social experience and genetic line on responses of young gilts in a social challenge paired interaction test

The increased focus on group housing of sows in commercial pig production emphasises the importance of saving appropriate gilts which later become sows that are well-adapted to group housing systems. This study aimed to assess the short-term effects of social mixing experience and genetic line on social and exploration responses of young gilts in standardised 3-min social challenge paired interaction tests. The study included 96 gilts, from 26 litters, of two different genetic lines (Swedish Yorkshire and Dutch Yorkshire). These lines were chosen because the dam lines have been selected in group-housed and individual stall systems, respectively, a background which was hypothesised to have modified their social behaviour over time. The gilts were subjected to different early (opportunity to co-mingle with piglets in the neighbouring farrowing pen vs. no opportunity to co-mingle) and late (mixed with unfamiliar piglets at weaning vs. kept with familiar littermates after weaning) social mixing treatments, to test whether the enhanced social experience was beneficial in a socially challenging situation. Paired interaction tests were conducted at 5 and 20 weeks of age, and social and exploration behaviour of the gilts was recorded and analysed. The results showed that Swedish Yorkshire gilts explored the pen fittings more than Dutch Yorkshire gilts during the 5-week test, whereas Dutch Yorkshire gilts explored the pen fittings more than Swedish Yorkshire gilts during the 20-week test. No differences in play behaviour were found during the 5-week test, but in the 20-week test, gilts with early social mixing experience in their farrowing pen showed more locomotor play behaviour than gilts without this experience. Overall, these results suggest that genetic line and early social mixing experience can influence the social and exploration behaviours of young gilts in paired interaction tests. There was no support for the hypothesis that genetic selection in different housing systems has altered social behaviour, but it may have affected the level of exploration behaviour. There was little support for our prediction that early social experience has beneficial effects in a socially challenging situation.

The Effect of Globalization on Hemoglobinopathies and its Genetic Inheritance: The Booster Effect of Genetic Combinations.

N/a.

Knowledge, Attitudes, and Perceptions of Mental Disorders Among Young Adults: Addressing Stigma and the Need for Mental Health Care

This study explores the knowledge, attitudes, and perceptions of young adults towards mental disorders and mental health care needs. Using a quantitative research design, data was collected from 170 participants via a structured questionnaire administered online. Descriptive statistics were employed to analyze the data, revealing key insights into demographic characteristics and respondents' views on mental health. The findings indicate a strong consensus on the importance of mental health as a vital component of overall well-being, with moderate agreement on the causes of mental disorders, such as brain diseases, genetic inheritance, and drug abuse. However, misconceptions persist, particularly regarding supernatural causes and the stigma associated with mental illness. While young adults generally hold positive attitudes towards individuals with mental disorders, some stigmatizing beliefs still exist. The study also highlights a widespread recognition of the need for mental health care, with an overwhelming majority of respondents advocating for professional help and open discussions about mental health concerns. These findings underscore the necessity of addressing mental health stigma and promoting awareness and education among young adults to foster a more supportive and understanding environment for those affected by mental disorders.

The complex non-genetic inheritance of complex traits.

The complex non-genetic inheritance of complex traits.

Inheritance and Stability of Grain Yield Traits and Its Components under Salt and Normal Conditions of Bread Wheat Genotypes (Triticum aestivum L.)

Inheritance and Stability of Grain Yield Traits and Its Components under Salt and Normal Conditions of Bread Wheat Genotypes (Triticum aestivum L.)

Clinical markers of Charcot-Marie-Tooth disease (own experience)

Charcot-Marie-Tooth disease is also called hereditary motor and sensory neuropathy. It is a genetically determined disease that has different variants of inheritance whose substratum is neuromuscular disorders. It may begin during childhood or later in life. Scientists have identified and described more than thirty genetic mutations that form an individual unique passport of violations of the sequence of a group of organic compounds or nucleotides in nucleic acid molecules. There are autosomal dominant, autosomal recessive and X-linked types of genetic inheritance of Charcot-Marie-Tooth disease. This pathology was first described in 1886 and affects about 10 to 40 per 100,000 population. More than 15,000 cases of Charcot-Marie-Tooth disease have been registered in Ukraine. It should be noted that peripheral myelin protein 22 became the first described gene causing Charcot-Marie-Tooth disease. Autosomal dominant Charcot-Marie-Tooth type 1 is the most common form of the disease. When observing patients, a neurologist pays attention to gait disturbances (steppage gait), foot distortion (pes cavus), distal hypotrophy, decrease or absence of tendon and periosteal reflexes, weakness and loss of sensitivity in the distal parts of the limbs. Hypotrophic changes in the limbs are continuously progressive. As a result of muscle atrophy and foot deformity, high-arched feet and extension of the big toe (Friedreich’s foot) are formed. To date, no pathogenetically substantiated treatment exists for Charcot-Marie-Tooth disease, but a multi-vector approach to comprehensive rehabilitation measures creates the necessary conditions to effectively control the manifestations of the inevitable progression of this pathology.