Hereditary Research Articles

Friedrich Miesher’s life path and contribution to science

The article discusses the main stages of life and activity of the famous Swiss organic chemist, Friedrich Miescher (August 13, 1844 – August 26, 1895), who was the first to isolate and describe the structure of the DNA molecule. F. Miescher was born in a family of scientists and doctors, studied medicine at the University of Basel (Switzerland), but did not become a practicing doctor. He mostly conducted his scientific research in the biochemical laboratory of Felix Hoppe-Zeyler in Tübingen (Germany). The object of the scientist's research was leukocytes, from the nuclei of which he managed to isolate a precipitate insoluble in most of the solvents known at that time. In 1869, F. Miescher obtained a molecule that he named nuclein (DNA). In the course of research, the scientist established its composition, some properties, and molecular weight, but was unable to describe its functions. Subsequently, F. Miescher discovered the presence of nucleic in the cells of other tissues, in the spermatozoa of many species of animals. At the Institute of Physiology of the University of Leipzig (Germany) in the laboratory of Karl Ludwig Friedrich Miescher studied the nerve pathways that transmit pain signals in the spinal cord. In 1871, the scientist completed his habilitation for the position of a professor at Basel University; he chose physiology of breathing as the topic of his work. F. Mischer continued to study the features of spermatozoa and oocytes; developed a number of theories regarding understanding of the processes of fertilization and transmission of hereditary traits, which, due to the lack of knowledge at the time, were quite speculative. In 1885, the scientist founded and headed the first in Switzerland Institute of Anatomy and Physiology in Vesalian, where he worked for 10 years. Friedrich Miescher died at the age of 52, before the results of his discovery were recognized. Only in 1944 it was proved that the DNA molecule is the carrier of genetic information. Most of the results of F. Miescher's scientific work were published after his death by his uncle, the famous Swiss anatomist Wilhelm His.

Non-Mendelian transmission of X chromosomes: mechanisms and impact on sex ratios and population dynamics in different breeding systems.

The non-Mendelian transmission of sex chromosomes during gametogenesis carries significant implications, influencing sex ratios and shaping evolutionary dynamics. Here we focus on known mechanisms that drive non-Mendelian inheritance of X chromosomes during spermatogenesis and their impact on population dynamics in species with different breeding systems. In Drosophila and mice, X-linked drivers targeting Y-bearing sperm for elimination or limiting their fitness, tend to confer unfavourable effects, prompting the evolution of suppressors to mitigate their impact. This leads to a complex ongoing evolutionary arms race to maintain an equal balance of males and females. However, in certain insects and nematodes with XX/X0 sex determination, the preferential production of X-bearing sperm through atypical meiosis yields wild-type populations with highly skewed sex ratios, suggesting non-Mendelian transmission of the X may offer selective advantages in these species. Indeed, models suggest X-meiotic drivers could bolster population size and persistence under certain conditions, challenging the conventional view of their detrimental effects. Furthering our understanding of the diverse mechanisms and evolutionary consequences of non-Mendelian transmission of X chromosomes will provide insights into genetic inheritance, sex determination, and population dynamics, with implications for fundamental research and practical applications.

Quantifying variant contributions in cystic kidney disease using national-scale whole-genome sequencing.

BACKGROUNDCystic kidney disease (CyKD) is a predominantly familial disease in which gene discovery has been led by family-based and candidate gene studies, an approach that is susceptible to ascertainment and other biases.METHODSUsing whole-genome sequencing data from 1,209 cases and 26,096 ancestry-matched controls participating in the 100,000 Genomes Project, we adopted hypothesis-free approaches to generate quantitative estimates of disease risk for each genetic contributor to CyKD, across genes, variant types and allelic frequencies.RESULTSIn 82.3% of cases, a qualifying potentially disease-causing rare variant in an established gene was found. There was an enrichment of rare coding, splicing, and structural variants in known CyKD genes, with statistically significant gene-based signals in COL4A3 and (monoallelic) PKHD1. Quantification of disease risk for each gene (with replication in the separate UK Biobank study) revealed substantially lower risk associated with genes more recently associated with autosomal dominant polycystic kidney disease, with odds ratios for some below what might usually be regarded as necessary for classical Mendelian inheritance. Meta-analysis of common variants did not reveal significant associations, but suggested this category of variation contributes 3%-9% to the heritability of CyKD across European ancestries.CONCLUSIONBy providing unbiased quantification of risk effects per gene, this research suggests that not all rare variant genetic contributors to CyKD are equally likely to manifest as a Mendelian trait in families. This information may inform genetic testing and counseling in the clinic.

Gene action and hybrid vigour for yield, yield components and tolerance to the Two-Spotted Spider mite in summer squash

An investigation was conducted at Kaha Vegetable Research Farm in the Kaliobia Governorate from 2021 to 2023 with an aim to evaluate the performance of six inbred lines of summer squash and their fifteen crosses in both open field and plastic greenhouse conditions. The study spanned two successive summer seasons (2022 and 2023) and focused on assessing horticultural traits and resistance levels to the two-spotted spider mite, Tetranychus urticae Koch (Acari: Tetranychidae). Significant variations were observed in the mean performance of all traits among different genotypes. Analysis revealed significant differences in both general (GCA) and specific (SCA) combining abilities for all studied traits, except for the number of days to anthesis of the first female flower, indicating the presence of both additive and non-additive gene effects in traits inheritance. In the plastic greenhouse, genotype P3 exhibited the highest resistance with an average of 10.6 mites per 2 inches², while the cross P2 × P6 showed tolerance with an average of 4.4 mites per 2 inches². This study highlights the potential of new summer squash hybrids with desirable horticultural traits and resistance to the two-spotted spider mite. Additionally, parent 222/2 (P1) demonstrated the best combining ability for all traits, while parents 264 (P5) and 240/3 (P4) were the most effective combiners for total yield. Breeders may leverage these parents for genetic enhancement and the production of hybrids with superior horticultural qualities. Overall, this research provides valuable insights for researchers, breeders and farmers involved in the cultivation, breeding and utilization of summer squash in Egypt.

Adaptability of Swiss Stone Pine (Pinus cembra) in Two Different Environmental Conditions of Romanian Carpathians

Swiss stone pine (Pinus cembra) is a feasible solution for increasing the resistance of future mixed spruce–pine stands to windfall at the upper altitudinal limit of Romanian forests. This study aims to analyze the adaptability of ten full-sib families in two different environmental conditions and their evolution in time for predicting forward selection. At a seedling age of 33, evaluations were carried out for survival rate (Sr), growth (diameter at breast height—Dbh, and trees’ height), and branch traits, as well as for stem straightness. The high level of genetic variability, inheritance rate, and trait–trait correlations, registered in both trials, ensure the success of the breeding program. The Swiss stone pine shows a very good adaptation on high-sloping lands from the upper altitudinal limit of Romania’s forests, with the cross-pollinated (CP) families registering a 28.5% better survival in the Rodna trial (34° slope) compared to the Păltiniș experiment (7° slope). The consanguineous families registered only an 11% Sr in Păltiniș, while in the Rodna trial, the Sr was four times higher (in both trials, consanguineous trees were dominated). The juvenile–adult correlations of growth traits were significant, indicating that early selection could be efficient. The forward selection of the best 10% of CP families for Dbh could be applied, ensuring a 9% to 15% genetic gain.

Preconception carrier screening and preimplantation genetic testing in the infertility management.

Genetic testing serves as a valuable element of reproductive care, applicable at various stages of the reproductive journey: (i) before pregnancy, when a couple's genetic reproductive risk can be evaluated; (ii) before embryo implantation, as part of in vitro fertilization (IVF) treatment, to ascertain several inherited or de novo genetic/chromosomal diseases ofthe embryo before transfer; (iii) during the prenatal period, to assess the genetic costitution of the fetus. Preconception carrier screening (CS) is a genetic test typically performed on couples planning a pregnancy. The primary purpose of CS is to identify couples at-risk of conceiving a child affected by a severe genetic disorder with autosomal recessive or X-linked inheritance. Detection of high reproductive risk through CS allows prospective parents to be informed of their predisposition and improve reproductive decision-making. These include undergoing IVF with preimplantation genetic testing (PGT) or donor gametes, prenatal diagnosis, adoption, remaining childless, taking no actions. Both the presence of the affected gene (PGT-M) and chromosomal status (PGT-A) of the embryo can be comprehensively assessed through modern approaches. We provide a review of CS and PGT applications to equip healthcare providers with up-to-date information regarding their opportunities and complexities. The use of CS and PGT is currently considered the most effective intervention for avoiding both an affected pregnancy whilst using autologous gametes in couples with known increased risk, and chromosomal abnormalities. As our understanding in the genetic component in pathological conditions increases, the number of tested disorders will expand, offering a more thorough assessment of one's genetic inheritance. Nevertheless, implementation and development in this field must be accompanied by scientific and ethical considerations to ensure this approach serves the best long-term interests of individuals and society, promoting justice and autonomy and preserving parenthood and the healthcare system. The combination of CS and PGT aligns with principles of personalized medicine by offering reproductive care tailored to the individual's genetic makeup.

Consumer eating quality and physicochemical traits of pork Longissimus and Semimembranosus differed between genetic lines

Pork eating quality is affected by various factors. In this study, Longissimus thoracis et lumborum (LTL) and Semimembranosus (SM) muscles from seven genetic lines (PM-LR – Pure maternal, Landrace-type; PM-LW – Pure maternal, Large White-type; PM-D – Pure maternal, Duroc-type; PT-D – Pure terminal, Duroc-type; PT-LW – Pure terminal, Large White-type; PT-LR - Pure Terminal, Landrace-type; Comp-P × LW × D - Composite Terminal – Pietran × Large white × Duroc) were analyzed for pH, intramuscular fat (IMF) content, and collagen content and solubility. A consumer sensory test using check-all-that-apply (CATA) and biometric approaches was also conducted. The results showed that the IMF content of line PM-D was the highest (P = 0.004), while line PT-LW received the highest score in tenderness, liking of flavor, purchase intent, and quality grading (P < 0.05). Line PM-LR and PT-LR showed the lowest IMF content and were least preferred by consumers. Compared to LTL, SM showed higher pH, collagen solubility, and sensory scores in tenderness, juiciness, liking of flavor, and overall liking (P < 0.05). Different muscles and lines were associated with different CATA terms but not with differences in consumer emotional responses. pH positively influenced tenderness, juiciness, and overall liking (P < 0.05), but IMF and collagen had little effect. The flavor was the most important sensory attribute contributing to overall liking, followed by tenderness. Genetic line and muscle affected pork chemical properties and eating quality. The findings are important for the Australian pork industry to improve the eating quality of their products.

Is seborrhoeic dermatitis of infancy and childhood related to maternal history of seborrhoeic dermatitis? A large population-based cohort study from the UK.

The pathophysiology of seborrhoeic dermatitis (SebD) is complex and is likely to be related to an interplay of the microbial colonization of the skin and local immunity. There are also genetic components to the illness. At least two forms of SebD exist, infantile (ISebD), which has onset early in life, and SebD with later onset. We aimed to improve our understanding of SebD by evaluating whether maternal history of SebD is associated with increased risk of ISebD or childhood-onset SebD (CSebD, with onset after 5 years of life). We performed a prospective cohort study of mother-child pairs using data from a large UK primary care electronic medical records database. We analysed 1 023 140 children with linked maternal data. The mean (SD) time of follow-up for the children was 10.2 (7.9) years for a total follow-up of more than 10 million person-years. Proportional hazards models [HRs (95% confidence intervals)] were used to examine the association between presence of SebD in mothers and SebD in the child. Maternal history of SebD was associated with development of SebD [1.99 (1.91-2.09)], ISebD [1.86 (1.74-1.99)] and CSebD [2.12 (1.97-2.29)] in their children. However, ISebD in a child was not associated with that child later developing CSebD [0.91 (0.82-1.01)]. Maternal history of SebD is a risk factor for the development of SebD in children. While we cannot fully differentiate SebD risk due to mother's genetics (inheritance) from a newborn's environment, our results lend credence to the possible role of genetics in SebD. A child with ISebD does not appear to be at risk for developing CSebD.

The embodied experience of genetic inheritance in hereditary thrombophilia.

Our study focuses on exploring the embodied experiences of genetic inheritance within and between bodies. Drawing on insights from studies on embodied experiences and family risk we examine how interviewees perceive their vulnerability, negotiate family narratives, genetic inheritance, and the transmission of genetic knowledge within families. To answer these questions, we conducted an interpretative phenomenological analysis, based on 10 in-depth interviews with patients with thrombophilia diagnosis and venous thromboembolic disease, in Hungary. Three Experiential Themes were identified: The body as a repository of risk (1), Family heritage (2), and The borderline of thrombophilia-liminality (3). Our study has found that patients living with thrombophilia interpret their bodies as repositories of genetic risk. It seems that an important aspect of adapting to thrombophilia is the creation of genetically vulnerable identities. Alongside the new identity(ies), living with risk can induce newly discovered forms of familial responsibility, within the common identification experience of family history and succession. Based on our research, we see that individuals living with thrombophilia experience the liminality of borderlands. In some cases, however, the space between health and illness represents a dynamic permeability for people with thrombophilia, which can be triggered by medical uncertainty in addition to individual experiences and life events.

Formation of human kinship structures depending on population size and cultural mutation rate

How does social complexity depend on population size and cultural transmission? Kinship structures in traditional societies provide a fundamental illustration, where cultural rules between clans determine people's marriage possibilities. Here, we propose a simple model of kinship interactions that considers kin and in-law cooperation and sexual rivalry. In this model, multiple societies compete. Societies consist of multiple families with different cultural traits and mating preferences. These values determine interactions and hence the growth rate of families and are transmitted to offspring with mutations. Through a multilevel evolutionary simulation, family traits and preferences are grouped into multiple clans with interclan mating preferences. It illustrates the emergence of kinship structures as the spontaneous formation of interdependent cultural associations. Emergent kinship structures are characterized by the cycle length of marriage exchange and the number of cycles in society. We numerically and analytically clarify their parameter dependence. The relative importance of cooperation versus rivalry determines whether attraction or repulsion exists between families. Different structures evolve as locally stable attractors. The probabilities of formation and collapse of complex structures depend on the number of families and the mutation rate, showing characteristic scaling relationships. It is now possible to explore macroscopic kinship structures based on microscopic interactions, together with their environmental dependence and the historical causality of their evolution. We propose the basic causal mechanism of the formation of typical human social structures by referring to ethnographic observations and concepts from statistical physics and multilevel evolution. Such interdisciplinary collaboration will unveil universal features in human societies.

Продуктивные особенности коров голштинской породы разных генетических линий

Abstract. The purpose of the study is to investigate the productive features of Holstein cows of different genetic lines. Methods. The research was carried out in two breeding enterprises of the Sverdlovsk region on the livestock of Holstein cows. Groups of animals were formed by the method of pairs of analogues, taking into account the age of animals in lactation, physiological condition, live weight, lines of breeding bulls. The coefficient of milk content was estimated by the calculation method. The lactose, fat and protein content in milk was determined using a “Bentley 150” device. Somatic cells were determined on the “Somatos-M” device. Bacterial contamination was studied using a reductase assay. Prolactin was determined by enzyme immunoassay, cortisol by immunochemiluminescent method. Results. In terms of milk yield for 305 days of lactation and protein content in milk, Montwick Chieftain cows had an advantage with a significant difference between the groups (P &lt; 0.05). The animals of the Reflection Sovering line were the best in terms of fat content, the difference between the groups was insignificant. The lowest content of somatic cells in milk and bacterial contamination was found in animals of the Reflection Sovering and Vis Back Idial lines. The best indicators of the leukocyte profile were determined in animals of the Vis Back Idial and Montwick Chieftain lines. In terms of glucose and total protein content in the blood, cows of the Montwick Chieftain line had an advantage, in terms of the amount of urea, animals of the Montwick Chieftain and Vis Back Idial line affiliation. The highest level of total lipids in the blood is typical for cows of the Reflection Sovering line. Scientific novelty. The research results indicate the relationship of biological characteristics and milk productivity with different lines of breeding bulls. The leukocyte profile of this herd of cows of different genetic lines in breeding enterprises of the Sverdlovsk region was studied for the first time. Practical significance. The results of the research can be used in breeding enterprises in order to increase the milk productivity of cows.

Abstract We026: Foxk1 and Foxk2 Promote Cardiomyocyte Proliferation and Heart Regeneration

Background: The adult mammalian heart exhibits limited regenerative capacity due to restricted cardiomyocyte (CM) proliferation following injuries like ischemia. Foxk1 and Foxk2, members of the Foxk family, are pivotal in cell proliferation and metabolic regulation. However, the roles of Foxk1 and Foxk2 in CM proliferation and heart regeneration remain elusive. Hypothesis: We propose that Foxk1 and Foxk2 are master regulators of CM proliferation and heart regeneration. Methods: Three genetic mouse lines, Myh6-CreER , Foxk1 fl/fl , and Foxk2 fl/fl were used to generate CM-specific Foxk1 or Foxk2 deficient mice. Myocardial infarction was performed in neonatal and adult mice. Cleavage Under Targets and Tagmentation sequencing (CUT&amp;Tag-seq), RNA sequencing (RNA-seq), qRT-PCR, Western blotting, immunostaining, and Seahorse metabolic assays were conducted to investigate the intrinsic mechanisms by which Foxk1 and Foxk2 regulate CM proliferation and heart regeneration. Masson’s staining and echocardiography were conducted to evaluate cardiac fibrosis and function, respectively. Results: Our results showed that the expression of Foxk1 and Foxk2 gradually decreased in CMs during postnatal heart development. CM-specific knockout of Foxk1 or Foxk2 inhibited neonatal heart regeneration after MI. AAV9-mediated CM-specific overexpression of Foxk1 or Foxk2 prolonged the postnatal proliferative window of CMs in mice. AAV9-mediated overexpression of Foxk1 or Foxk2 in adult mice improved heart regeneration by promoting endogenous CM proliferation after MI. Through joint analysis of RNA-Seq and CUT&amp;Tag-seq, we found that Foxk1 and Foxk2 regulated Ccnb1 and Cdk1 transcription respectively. Knockdown of Ccnb1 hindered CM proliferation induced by Foxk1 overexpression, and the same effect was observed when Cdk1 was knocked down in Foxk2-overexpressing CMs. Additionally, Foxk1 and Foxk2 induced CM metabolic reprogramming, suppressing mitochondrial oxidative phosphorylation (OXPHOS) via Hif1α upregulation and reducing oxidative DNA damage, thereby modulating the cell cycle. Conclusions: Foxk1 and Foxk2 promote CM proliferation and heart regeneration. Mechanistically, Foxk1 and Foxk2 promote CM proliferation via dual effects that directly promote cell cycle gene transcription and induce metabolic reprogramming. Our findings suggest these transcription factors as potential novel targets in cardiac regeneration post-injury.

Role of Selected Genetic Polymorphisms in the Development of Rheumatoid Arthritis in a British White Population.

Rheumatoid arthritis (RA) is a complex autoimmune disease that negatively affects synovial joints, leading to the deterioration of movement and mobility of patients. This chronic disease is considered to have a strong genetic inheritance, with genome-wide association studies (GWAS) highlighting many genetic loci associated with the disease. Moreover, numerous confounding and non-genetic factors also contribute to the risk of the disease. This study investigates the association of selected genetic polymorphisms with rheumatoid arthritis risk and develops a polygenic risk score (PRS) based on selected genes. A case-control study recruited fully consenting participants from the East Midlands region of the UK. DNA samples were genotyped for a range of polymorphisms and genetic associations were calculated under several inheritance models. PRS was calculated at crude (unweighted) and weighted levels, and its associations with clinical parameters were determined. There were significant associations with the risk of RA at six genetic markers and their associated risk alleles (TNRF2*G, TRAF1*A, PTPN22*T, HLA-DRB1*G, TNFα*A, and IL4-590*T). The TTG haplotype at the VDR locus increased the risk of RA with an OR of 3.05 (CI 1.33-6.98, p = 0.009). The GA haplotype of HLADRB1-TNFα-308 was a significant contributor to the risk of RA in this population (OR = 2.77, CI 1.23-6.28, p = 0.01), although linkage disequilibrium was low. The polygenic risk score was significantly higher in cases over controls in both unweighted (mean difference = 1.48, t285 = 5.387, p < 0.001) and weighted (mean difference = 2.75, t285 = 6.437, p < 0.001) results. Several genetic loci contribute to the increased risk of RA in the British White sample. The PRS is significantly higher in those with RA and can be used for clinical applications and personalised prevention of disease.

Correlation Between ABO Blood Grouping and Erythrocyte Sedimentation Rate (ESR) in Periodontal Diseases.

This study investigates the relationship between erythrocyte sedimentation rate (ESR) and ABO blood grouping in the context of periodontal disorders. Periodontal diseases, chronic inflammatory conditions that damage the tissues supporting teeth, can lead to tooth loss if left untreated. ESR, a common hematological test indicating systemic inflammation, has been linked to the severity of periodontal disease. ABO blood grouping, a hereditary trait, is linked to a higher risk of various oral and systemic diseases. By synthesizing existing research, this study explores the potential of the connection between blood type ABO and ESR levels in individuals with periodontal disorders, examining studies that assess the distribution of ABO blood types and corresponding ESR values among periodontal patients.

TPACK and Learning Strategies in Genetics: A Pedagogical Study

Genetics is a part of biological science that contains topics such as genetic structure, protein synthesis, cell division, and inheritance of traits. Genetics is one of the most commonly found misconceptions and difficulties in learning this material due to its complex, abstract and rapid development. To overcome these problems, it is necessary to analyse TPACK and analyse various learning strategies used in teaching genetics so that it can be taken into consideration for teachers in teaching genetics in the classroom. This research uses descriptive qualitative method by collecting relevant research in the form of national and international articles available on various websites. From the results of the research, it was found that teachers have applied a variety of models, methods, and media in learning genetics. The success in this learning process certainly depends on the teacher's TPACK analysis skills so that the teacher not only pays attention to the content but also can adjust it to the needs of students.

The Role of Genetics, Neurobiology, and Psychosocial Factors in the Development and Treatment of Eating Disorders: A Systematic Review

Eating disorders are severe complications affecting peoples’ eating patterns, with erratic practices like purging behaviors, binge eating, and avoidance of food. These disorders result from different causes, including neurotransmitter imbalance, psychological factors like body-shaming, and genetic inheritance. The present review focuses on genetic, neurobiology and psychological factors to provide an understanding of the development of eating disorders and subsequent treatment. The present review was performed according to the Preferred Reporting Items for Systematic Reviews and Meta-Analysis (PRISMA) checklist that guided the evidence collection in the review to ascertain high quality. The Participant, Interventions, Comparison, Outcomes, and Studies (PICOS) protocol guided the establishment of potential studies' inclusion criteria. The Grading of Recommendations, Assessments, Development, and Evaluation (GRADE) approach was used to assess the certainty of evidence from the individual studies. Two independent reviewers were tasked with study selection, data collection, and study risk of bias assessed. The reviewers used the Cochrane risk of bias tool to assess the risk of bias in the included studies. Fifteen studies met the eligibility tests and were included in the review. A review of the evidence obtained from the included studies revealed that neurobiology, genetics and psychological factors influence the development of eating disorders like binge eating disorders, anorexia nervosa, and bulimia nervosa. In genetics, familial integration and heredity revealed the passing of the genes responsible for the development of anorexia nervosa in subsequent generations. Psychological factors and neurobiology affect self-esteem or body shaming and affect the balance of neurotransmitters in the brain, respectively. The treatment interventions aim to restore neurotransmitter levels and confidence after losing confidence and self-body hate due to bad shape. Genetics, neurobiological factors and psychological status are responsible for the development of eating disorders. Bulimia nervosa, binge eating disorder and purging behaviors result from unregulated 5-HT depletion, can be inherited or can result from body shaming. The evidence shows that eating disorders can be treated based on the aetiologies and pathophysiology. Keywords: Eating disorders, treatment, neurobiological factors, genetics, binge eating disorder, bulimia nervosa.

Generation Mean Analysis for Estimating Gene Action, Heterosis and Inbreeding Depression in Yield and Foliar Disease Resistance in Three Faba Bean (Vicia faba L.) Crosses

This study was conducted at the Sakha Agricultural Research Station farm over three growing seasons (2019/20, 2020/21, and 2021/22) to introduce new faba bean genotypes possessing high yield potential and increased resistance to foliar diseases. The research involved six populations (P1, P2, F1, F2, BC1, and BC2) from three crosses (Cross-1: Santamora x Foal Sbai Labiade, Cross-2: Santamora x Misr 3, and Cross-3: Cairo 4 x Misr 3), analyzed using a randomized complete block design with three replications. Generation mean analysis revealed significant mid and better parent heterosis for most traits, indicating over-dominance. Inbreeding depression manifested negatively for chocolate spot and rust diseases but positively for seed count and seed yield per plant across all crosses. Non-allelic interactions were present for all traits, and dominance gene effects were more influential than additive gene effects for most traits. Mean performance analysis showed that F1 populations had lower disease reactions, but higher yields compared to the better parent, while F2 populations displayed greater genetic variability due to segregation. Heterosis was significant for yield and its components across all crosses but less beneficial for disease resistance. Inbreeding depression was significant and negative for disease reactions but positive for yield traits. The study found high broad-sense heritability for all traits, suggesting potential for phenotypic selection. Narrow-sense heritability values were moderate for qualitative traits and lower for quantitative traits. Genetic advance under selection indicated the highest gains were associated with moderate heritability values. Significant non-allelic interactions suggested the need for specific breeding strategies, with dominance gene effects more pronounced than additive effects. These findings support the feasibility of selecting high-yielding, disease-resistant faba bean genotypes through targeted breeding methods, aligning with previous research on the genetic inheritance of these traits.

Epigenetic Modifications of Hormonal Signaling Pathways in Plant Drought Response and Tolerance for Sustainable Food Security.

Drought significantly challenges global food security, necessitating a comprehensive understanding of plant molecular responses for effective mitigation strategies. Epigenetic modifications, such as DNA methylation and histone modifications, are key in regulating genes and hormones essential for drought response. While microRNAs (miRNAs) primarily regulate gene expression post-transcriptionally, they can also interact with epigenetic pathways as potential effectors that influence chromatin remodeling. Although the role of miRNAs in epigenetic memory is still being explored, understanding their contribution to drought response requires examining these indirect effects on epigenetic modifications. A key aspect of this exploration is epigenetic memory in drought-adapted plants, offering insights into the transgenerational inheritance of adaptive traits. Understanding the mechanisms that govern the maintenance and erasure of these epigenetic imprints provides nuanced insights into how plants balance stability and flexibility in their epigenomes. A major focus is on the dynamic interaction between hormonal pathways-such as those for abscisic acid (ABA), ethylene, jasmonates, and salicylic acid (SA)-and epigenetic mechanisms. This interplay is crucial for fine-tuning gene expression during drought stress, leading to physiological and morphological adaptations that enhance plant drought resilience. This review also highlights the transformative potential of advanced technologies, such as bisulfite sequencing and CRISPR-Cas9, in providing comprehensive insights into plant responses to water deficit conditions. These technologies pave the way for developing drought-tolerant crops, which is vital for sustainable agriculture.

Folate-mediated transgenerational inheritance of sperm DNA methylation patterns correlate with spinal axon regeneration

ABSTRACT In mammals, the molecular mechanisms underlying transgenerational inheritance of phenotypic traits in serial generations of progeny after ancestral environmental exposures, without variation in DNA sequence, remain elusive. We’ve recently described transmission of a beneficial trait in rats and mice, in which F0 supplementation of methyl donors, including folic acid, generates enhanced axon regeneration after sharp spinal cord injury in untreated F1 to F3 progeny linked to differential DNA methylation levels in spinal cord tissue. To test whether the transgenerational effect of folic acid is transmitted via the germline, we performed whole-genome methylation sequencing on sperm DNA from F0 mice treated with either folic acid or vehicle control, and their F1, F2, and F3 untreated progeny. Transgenerational differentially methylated regions (DMRs) are observed in each consecutive generation and distinguish folic acid from untreated lineages, predominate outside of CpG islands and in regions of the genome that regulate gene expression, including promoters, and overlap at both the differentially methylated position (DMP) and gene levels. These findings indicate that molecular changes between generations are caused by ancestral folate supplementation. In addition, 29,719 DMPs exhibit serial increases or decreases in DNA methylation levels in successive generations of untreated offspring, correlating with a serial increase in the phenotype across generations, consistent with a ‘wash-in’ effect. Sibship-specific DMPs annotate to genes that participate in axon- and synapse-related pathways.

Cancer-associated thrombosis: the role of inherited thrombophilia.

Cancer-associated thrombosis (CAT) is a common complication and a major cause of morbidity and mortality in patients with active cancers. CAT is common in various malignancies, particularly pancreatic, ovarian, gastric, colorectal, and hematologic cancers. In fact, CAT is a complicated multifactorial complication that may be influenced by the type of cancer as well as by the genetic background and inheritance of thrombophilic variants and elevated concentrations of coagulation factors. Several studies have shown the prominent role of inherited thrombophilias, such as prothrombin 20210, factor V Leiden, factor XIII Val34Leu, MTHFR C677T, in the occurrence of CAT, while others have found no correlation between them and CAT. In the present review, we have attempted to investigate the possible role of inherited thrombophilia in the occurrence of CAT.