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Journal articles on the topic 'Genetic Epigenesis'
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1
Szabad, János. "Előprogramozott gének." Orvosi Hetilap 158, no. 34 (August 2017): 1323–30. http://dx.doi.org/10.1556/650.2017.30837.
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Abstract: Cells feel good and carry on perfect functions when they contain the right types of proteins in the right concentration, at the right time and sites. There are mechanisms that ensure the right level of gene expression in the different cell types: the formation of protein molecules based on the DNA-encoded genetic information. Gene expression can also be regulated through the compactness of chromatin, i.e. the accessibility of the genes. The chromosomes are repositories of the genetic information – the sequence of base pairs – and also of the so-called epigenetic mechanisms that control gene expression through the regulation of chromatin compactness. The epigenetic mechanisms operate through DNA methylation and/or the regulation of chromatin compactness. The present overview takes a look into the phenomenon of epigenesis. It summarizes how genetic crosses reveal the involvement of epigenesis, explains its meaning and impact on life of the organisms. An understanding of epigenesis provides guidance to improve our life. Orv Hetil. 2017; 158(34): 1323–1330.
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Miller, Alexander, Catherine Malabou, Emily Apter, Peter Szendy, Emanuela Bianchi, and Alexander R. Galloway. "On Epigenesis." October, no. 175 (2021): 109–44. http://dx.doi.org/10.1162/octo_a_00418.
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Abstract “On Epigenesis” consists of a series of interrelated short articles examining the philosophical concept of epigenesis, with a particular focus on Catherine Malabou's development of it in contemporary thought. Alexander Miller introduces the topic of epigenesis and considers its significance as a new paradigm. He also presents the reader with an overview of Malabou's work on the topic: Drawing from recent advances in the life sciences as well as the Western philosophical tradition, he claims, Malabou has proposed “an epigenetic paradigm for rationality” for the 21st century. Catherine Malabou explains that when, in 2001, the scientific journal Nature published virtually the entire sequence of three billion bases that make up the human genome, people were surprised: Only five percent of the sequence turned out to actually be genes. Assembled in bunches and clusters, they are separated by vast expanses of so-called gene deserts made up of DNA characterized as “junk” or “repetitive,” which is to say, non-coding. The sequencing of the genome did not offer the revelations that people had expected, marking the end of the “everything is genetic” creed and announcing the rise of the “epigenetic paradigm.” The present article analyzes the implications of this new paradigm in biology, philosophy, and hermeneutics. Emily Apter situates Catherine Malabou's theory of epigenesis within a broader disciplinary context of Continental philosophy, the cognitive turn, and what a brain does or “is” as an object of aesthetic representation. Peter Szendy argues that even if they are not the central focus of her philosophical work, media and medial metaphors play a key role in Catherine Malabou's understanding of epigenetics. Indeed, her views on the epigenetic paradigm shift could lead to a rethinking of mediality. A medium, according to such an epigenetic approach, would be neither simply a storage space nor a carrier: It would be what happens along with the events (whether they involve works or data) that it hosts or transports. Emanuela Bianchi asks whether the epigenesis of “pure reason” can in any sense be “pure,” since epigenesis necessarily involves empirical processes. Foregrounding the topological involvement of the developing organism in its environment in both biological and psychoanalytic registers, she suggests a way forward can be found in thinking of the genesis of reason as both empirical and rational. Alexander R. Galloway traces an etymological path from “epigenetic” back to the Greek verb “gignomai,” meaning “to be born” or “to become.” But what is becoming? And why is becoming better than (mere) being? One answer is that becoming helps one to escape the confines of identity and rote determination. But what happens when the epigenetic paradigm becomes dominant, when contingency, evolution, and becoming prevail over essence, stasis, and determinism?
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Martinson, T. J. "“The Utter Blankness Found Within”: Epigenetic Formalism in House of Leaves." Poetics Today 44, no. 3 (September 1, 2023): 435–62. http://dx.doi.org/10.1215/03335372-10578513.
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Abstract This article examines epigenetic relations through the study of “blankness” in Mark Z. Danielewski's House of Leaves (2000). The novel's experimental form, as well as the eponymous House on Ash Tree Lane, provide particularly productive models for envisioning the structural and mutative agency of immaterial relations responsible for epigenesis, or the molecular signals that alter genetic expression. To examine the agency of blankness as it applies across literary theory and epigenesis, this essay borrows from science studies, new materialisms, biosemiotics, new formalisms, and Derridean deconstruction to offer an interdisciplinary hermeneutics deemed “epigenetic formalism” by which to better conceive of a network—whether biological or literary—whose form absorbs its environmental milieu via the agency of blankness. In this way, examining epigenesis alongside House of Leaves allows for crucial insight into the relationality and formal composition of the human genome, as well as insight into the relationality and composition of forms in a literary text.
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Lapin, A. V., A. V. Tolstov, and I. M. Kulikova. "Unique Ultra-Rich Rare Metal Ores of the Tomtor Complex and Problem of Their Genesis." МИНЕРАЛОГИЯ (MINERALOGY) 5 (October 27, 2019): 70–88. http://dx.doi.org/10.35597/2313-545x-2019-5-3-70-88.
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Main genetic models of the formation of ultra-rich rare metal ores of the Tomtor deposit (Yakutia) are compared on the basis of their structural-textural features, mineral composition, and geologic setting: 1) reducing epigenesis of laterite weathering crusts of carbonatites and 2) redeposition of weathering products of carbonatites. It is shown that the unique features of the Tomtor deposit are explained by more complex (compared with other deposits of weathering crusts of carbonatites) evolution, which is expressed in two consecutive stages of supergenesis: laterite weathering and reducing epigenesis and their total ore-concentrating efects. The searching-forecast criteria for ores of the Tomtor type are suggested on the basis of epigenetic model of their formation.
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Ether, Yashoda, Pravin Jadhav, MP Moharil, MS Dudhare, P. Kale, and R. Dani. "Epigenesis ThroughIn-vitroRegeneration in Soybean Amenable to Genetic Transformation." Vegetos- An International Journal of Plant Research 26, no. 2 (2013): 245. http://dx.doi.org/10.5958/j.2229-4473.26.2.081.
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Vitale, Francesco. "Differing the Ecological Event: Interpretive Mutations between Bio- and Eco-Deconstruction." Oxford Literary Review 45, no. 1 (July 2023): 57–73. http://dx.doi.org/10.3366/olr.2023.0403.
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In Biodeconstruction (2018) I argued that Derrida, in the Life Death seminar (1975–76), would have anticipated the most recent developments in epigenetics, a field in which the dogma of genetic determinism is radically challenged by noting the influence of the environment in the production of mutations in the genetic program, particularly when a genetic population is faced with a radical change in its environmental conditions, which I propose to call an ‘ecological event’. I explore a comparison between the Derridean deconstruction of genetic determinism and the theoretical elaborations of epigenesis, referring to the work of Eva Jablonka and Marion J. Lamb, Evolution in Four Dimensions (2005). Jablonka and Lamb propose a theory of genetic variation in which mutations would be the result of the interpretation of unpredictable environmental events by the individual whose survival would be in danger. Through this comparison, I show that the study of ‘interpretive Mutations’ as reactions to unpredictable environmental events can be helpful in understanding the Derridean theme of the ‘event’, rearticulating it in relation to the radical environmental changes that humanity will sooner or later face.
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Ramozzi-Chiarottino, Zelia. "Jean Piaget’s Genetic Epistemology as a Theory of Knowledge Based on Epigenesis." ATHENS JOURNAL OF HUMANITIES & ARTS 8, no. 3 (June 11, 2021): 209–30. http://dx.doi.org/10.30958/ajha.8-3-2.
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This article aims to highlight Jean Piaget’s theory of knowledge and situate it in this context since its beginnings in Ancient Greece where, in Plato, we already find this seminal idea: knowledge is acquired in successive and upward moments (dialektikê), starting from an opinion on the sensible world (doxa) towards the épistêmê of the intelligible world, the world of Ideas or concepts. Piaget’s Theory of Knowledge, we believe, was determined by four moments: 1) his research as a malacologist under the guidance of Godet and Raymond, 2) the acquaintance with Kant’s philosophy at age of 21, 3) his internship at the Binet/Simon laboratory, 4) his studies on the Limnaea Stagnalis. His core idea: it is possible for human beings to attain the necessary and universal knowledge due to the exchange processes of their organisms with the environment, which give rise to the epigenetic ontogenesis of their specific organic mental structures, framed for the specific act of knowing. Epigenetic ontogenesis begins with the infans first actions in the world, from the very moment of birth. Around two years of age, these actions will be represented and organized in groups linked to empirical experience, until the brain be able to perform the operations of the Abelian Group. The physiological development ends here, and the logico-mathematical knowledge becomes possible.
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Walker, Stephen F. "Is human language just another neurobiological specialization?" Behavioral and Brain Sciences 19, no. 4 (December 1996): 649–50. http://dx.doi.org/10.1017/s0140525x00043508.
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AbstractOne can disagree with Müller that it is neurobiologically questionable to suppose that human language is innate, specialized, and species-specific, yet agree that the precise brain mechanisms controlling language in any individual will be influenced by epigenesis and genetic variability, and that the interplay between inherited and acquired aspects of linguistic capacity deserves to be investigated.
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Schaafsma, S. M., B. J. Riedstra, K. A. Pfannkuche, A. Bouma, and T. G. G. Groothuis. "Epigenesis of behavioural lateralization in humans and other animals." Philosophical Transactions of the Royal Society B: Biological Sciences 364, no. 1519 (December 4, 2008): 915–27. http://dx.doi.org/10.1098/rstb.2008.0244.
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Despite several decades of research, the epigenesis of behavioural and brain lateralization is still elusive, although its knowledge is important in understanding developmental plasticity, function and evolution of lateralization, and its relationship with developmental disorders. Over the last decades, it has become clear that behavioural lateralization is not restricted to humans, but a fundamental principle in the organization of behaviour in vertebrates. This has opened the possibility of extending descriptive studies on human lateralization with descriptive and experimental studies on other vertebrate species. In this review, we therefore explore the evidence for the role of genes and environment on behavioural lateralization in humans and other animals. First, we discuss the predominant genetic models for human handedness, and conclude that their explanatory power alone is not sufficient, leaving, together with ambiguous results from adoption studies and selection experiments in animals, ample opportunity for a role of environmental factors. Next, we discuss the potential influence of such factors, including perinatal asymmetrical perception induced by asymmetrical head position or parental care, and social modulation, both in humans and other vertebrates, presenting some evidence from our own work on the domestic chick. We conclude that both perinatal asymmetrical perception and later social modulation are likely candidates in influencing the degree or strength of lateralization in both humans and other vertebrates. However, in most cases unequivocal evidence for this is lacking and we will point out further avenues for research.
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Tikhonovich, Igor A., and Nikolay A. Provorov. "Epigenetics of ecological niches." Ecological genetics 8, no. 4 (December 15, 2010): 30–38. http://dx.doi.org/10.17816/ecogen8430-38.
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The development of symbioses ensures formation of the super-organism systems for heredity (symbiogenomes) which represent the products of joint adaptations of partners towards an unfavorable environment. Using the examples of symbioses which enable plants and microorganisms to cooperatively overcome the limitations in the major biogenic elements (C, N, P) or impacts of the biotic and abiotic stresses we demonstrate that symbiosis involves not only the de novo formation (epigenesis) by plant of the ecological niches for hosting the microsymbionts, but also the reorganizations of relevant genetic systems in accordance to the partners’ genotypes and environmental conditions. A possibility to address the ongoing processes in terms of epigenetics is evident when the microsymbionts occurring in the novel niches are included into the host reproduction cycle ensuring a stable maintenance of novel adaptation in the next generations suggesting that the newly formed symbiogenome have acquired the properties of a system for inheritance of the newly acquired adaptive traits.
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Greiffenstein, Manfred F. "Secular IQ Increases by Epigenesis? The Hypothesis of Cognitive Genotype Optimization." Psychological Reports 109, no. 2 (October 2011): 353–66. http://dx.doi.org/10.2466/03.04.10.19.pr0.109.5.353-366.
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The short timescale of massive secular IQ gains (“Flynn Effect”) is inconsistent with positive selection of a recent gene mutation, but other genetic mechanisms are possible. Principles of evolutionary psychology, combined with secular trends, suggest an epigenetic explanation: the Cognitive Genome Optimization Hypothesis. Per life-history theory, favorable secular trends may change the phenotypic expression of the genotype which controls the neurophysiology of problem solving. The hypothesis posits two intermediate steps between reliable nutrition (the starting point) and higher IQs (ending point): (1) Earlier cognitive maturation and (2) further calibration of cognitive function by reliable social resources (cultural complexity, mandatory education). Unlike earlier generations, more resources can be deployed to cognitive maturation than to physical survival, and more time is available to calibrate cognitive processing into the upper end of the trait value range for intelligence. The secular trend of earlier puberty timing is critical: data show an association between puberty and higher IQ.
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Johnson, Andrew D., Emma Richardson, Rosemary F. Bachvarova, and Brian I. Crother. "Evolution of the germ line–soma relationship in vertebrate embryos." REPRODUCTION 141, no. 3 (March 2011): 291–300. http://dx.doi.org/10.1530/rep-10-0474.
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The germ line and soma together maintain genetic lineages from generation to generation: the germ line passes genetic information between generations; the soma is the vehicle for germ line transmission, and is shaped by natural selection. The germ line and somatic lineages arise simultaneously in early embryos, but how their development is related depends on how primordial germ cells (PGC) are specified. PGCs are specified by one of two means. Epigenesis describes the induction of PGCs from pluripotent cells by signals from surrounding somatic tissues. In contrast, PGCs in many species are specified cell-autonomously by maternally derived molecules, known as germ plasm, and this is called preformation. Germ plasm inhibits signaling to PGCs; thus, they are specified cell-autonomously. Germ plasm evolved independently in many animal lineages, suggesting convergent evolution, and therefore it would be expected to convey a selective advantage. But, what this is remains unknown. We propose that the selective advantage that drives the emergence of germ plasm in vertebrates is the disengagement of germ line specification from somatic influences. This liberates the evolution of gene regulatory networks (GRNs) that govern somatic development, and thereby enhances species evolvability, a well-recognized selective advantage. We cite recent evidence showing that frog embryos, which contain germ plasm, have modified GRNs that are not conserved in axolotls, which represent more basal amphibians and employ epigenesis. We also present the correlation of preformation with enhanced species radiations, and we discuss the mutually exclusive trajectories influenced by germ plasm or pluripotency, which shaped chordate evolution.
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Laganà, Antonio Simone, Simone Garzon, Martin Götte, Paola Viganò, Massimo Franchi, Fabio Ghezzi, and Dan C. Martin. "The Pathogenesis of Endometriosis: Molecular and Cell Biology Insights." International Journal of Molecular Sciences 20, no. 22 (November 10, 2019): 5615. http://dx.doi.org/10.3390/ijms20225615.
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The etiopathogenesis of endometriosis is a multifactorial process resulting in a heterogeneous disease. Considering that endometriosis etiology and pathogenesis are still far from being fully elucidated, the current review aims to offer a comprehensive summary of the available evidence. We performed a narrative review synthesizing the findings of the English literature retrieved from computerized databases from inception to June 2019, using the Medical Subject Headings (MeSH) unique ID term “Endometriosis” (ID:D004715) with “Etiology” (ID:Q000209), “Immunology” (ID:Q000276), “Genetics” (ID:D005823) and “Epigenesis, Genetic” (ID:D044127). Endometriosis may origin from Müllerian or non-Müllerian stem cells including those from the endometrial basal layer, Müllerian remnants, bone marrow, or the peritoneum. The innate ability of endometrial stem cells to regenerate cyclically seems to play a key role, as well as the dysregulated hormonal pathways. The presence of such cells in the peritoneal cavity and what leads to the development of endometriosis is a complex process with a large number of interconnected factors, potentially both inherited and acquired. Genetic predisposition is complex and related to the combined action of several genes with limited influence. The epigenetic mechanisms control many of the processes involved in the immunologic, immunohistochemical, histological, and biological aberrations that characterize the eutopic and ectopic endometrium in affected patients. However, what triggers such alterations is not clear and may be both genetically and epigenetically inherited, or it may be acquired by the particular combination of several elements such as the persistent peritoneal menstrual reflux as well as exogenous factors. The heterogeneity of endometriosis and the different contexts in which it develops suggest that a single etiopathogenetic model is not sufficient to explain its complex pathobiology.
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TARTER, RALPH, MICHAEL VANYUKOV, PETER GIANCOLA, MICHAEL DAWES, TIMOTHY BLACKSON, ADA MEZZICH, and DUNCAN B. CLARK. "Etiology of early age onset substance use disorder: A maturational perspective." Development and Psychopathology 11, no. 4 (December 1999): 657–83. http://dx.doi.org/10.1017/s0954579499002266.
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The etiology of early age onset substance use disorder (SUD), an Axis I psychiatric illness, is examined from the perspective of the multifactorial model of complex disorders. Beginning at conception, genetic and environment interactions produce a sequence of biobehavioral phenotypes during development which bias the ontogenetic pathway toward SUD. One pathway to SUD is theorized to emanate from a deviation in somatic and neurological maturation, which, in the context of adverse environments, predisposes to affective and behavioral dysregulation as the cardinal SUD liability-contributing phenotype. Dysregulation progresses via epigenesis from difficult temperament in infancy to conduct problems in childhood to substance use by early adolescence and to severe SUD by young adulthood.
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Beauchaine, Theodore P., Emily Neuhaus, Sharon L. Brenner, and Lisa Gatzke-Kopp. "Ten good reasons to consider biological processes in prevention and intervention research." Development and Psychopathology 20, no. 3 (2008): 745–74. http://dx.doi.org/10.1017/s0954579408000369.
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AbstractMost contemporary accounts of psychopathology acknowledge the importance of both biological and environmental influences on behavior. In developmental psychopathology, multiple etiological mechanisms for psychiatric disturbance are well recognized, including those operating at genetic, neurobiological, and environmental levels of analysis. However, neuroscientific principles are rarely considered in current approaches to prevention or intervention. In this article, we explain why a deeper understanding of the genetic and neural substrates of behavior is essential for the next generation of preventive interventions, and we outline 10 specific reasons why considering biological processes can improve treatment efficacy. Among these, we discuss (a) the role of biomarkers and endophenotypes in identifying those most in need of prevention; (b) implications for treatment of genetic and neural mechanisms of homotypic comorbidity, heterotypic comorbidity, and heterotypic continuity; (c) ways in which biological vulnerabilities moderate the effects of environmental experience; (d) situations in which Biology × Environment interactions account for more variance in key outcomes than main effects; and (e) sensitivity of neural systems, via epigenesis, programming, and neural plasticity, to environmental moderation across the life span. For each of the 10 reasons outlined we present an example from current literature and discuss critical implications for prevention.
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Gainanov, Sh Kh. "STAGES OF THE ENGINEERING-GEOLOGICAL PROPERTIES OF ROCK OF THE RED-COLORED TERRIGENOUS FORMATION OF THE KAMA REGION." Вестник Пермского университета. Геология 21, no. 2 (2022): 111–23. http://dx.doi.org/10.17072/psu.geol.21.2.111.
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The paper analyzes the stages of formation of engineering-geological properties of rocks of the red-colored terrigenous formation. Two main stages are distinguished, which determined the features of their engineering-geological characteristics. The first stage – the stage of progressive lithogenesis was characterized by facies sedimentation environments and determined the main genetic types of rocks of the formation. The second stage – the stage of epigenesis (hypergenesis) was defining for the formation of the engineering and geological properties existing at the present time that must be taken into account when solving problems in the course of design and construction work. The role of local tectonic structures and tectonic fracturing within them is emphasized in the activation of hypergenesis processes and changes in rock properties.
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CANNON, TYRONE D., ISABELLE M. ROSSO, CARRIE E. BEARDEN, LAURA E. SANCHEZ, and TREVOR HADLEY. "A prospective cohort study of neurodevelopmental processes in the genesis and epigenesis of schizophrenia." Development and Psychopathology 11, no. 3 (September 1999): 467–85. http://dx.doi.org/10.1017/s0954579499002163.
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A number of lines of evidence converge in implicating neurodevelopmental processes in the etiology and epigenesis of schizophrenia. In this study we used a prospective, longitudinal design to examine whether adverse obstetric experiences predict schizophrenia and whether there is a deviant functional–developmental trajectory during the first 7 years of life among individuals who manifest schizophrenia as adults. The 9,236 members of the Philadelphia cohort of the National Collaborative Perinatal Project were screened for mental health service utilization in adulthood, and chart reviews were performed to establish diagnoses according to DSM-IV criteria. The risk for schizophrenia increased linearly with the number of hypoxia-associated obstetric complications but was unrelated to maternal infection during pregnancy or fetal growth retardation. Preschizophrenic cases (and their unaffected siblings who were also cohort members) manifested cognitive impairment, abnormal involuntary movements and coordination deficits, and poor social adjustment during childhood. There was no evidence of intraindividual decline in any domain, but preschizophrenic cases did show deviance on an increasing number of functional indicators with age. Together, these findings suggest that both genetic and obstetric factors participate in creating a neural diathesis to schizophrenia, the phenotypic expressions of which are age dependent, probably reflecting the maturational status of a number of interconnected brain systems.
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Μανιαδάκη, Κατερίνα. "Η πρώιμη παρέμβαση στην περίπτωση της ΔΕΠ-Υ στο πλαίσιο του βιοψυχοκοινωνικού μοντέλου." Psychology: the Journal of the Hellenic Psychological Society 25, no. 2 (December 26, 2020): 51. http://dx.doi.org/10.12681/psy_hps.25583.
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The aim of this paper is to provide evidence regarding the necessity and the effectiveness of early intervention for ADHD, by reviewing the most important international early intervention programs for ADHD and by presenting a relevant program implemented in Greece, based on the multi-level approach in developmental psychopathology. These programs are underpinned theoretically by the biopsychosocial epigenetic model which claims that ADHD is not just the outcome of structural and functional neurobiological deficits but results from the dynamic interplay among genetic, neurophysiological, neurochemical, and environmental factors, affecting brain structure and function early in the process of development. Early intervention focuses on those processes that take place very early in development and have a causal relationship with ADHD, with the aim of modifying the underlying neurophysiology and producing generalized long-lasting change. The efficacy of early intervention mainly lies in the fact that it takes place during a period when brain plasticity is great. Plasticity is an intrinsic property of the brain that ensures dynamic modifications at multiple levels of neural organization, allowing the brain to process, encode, and implement new knowledge. Although this neuronal development is to a great extent genetically programmed, it is widely acknowledged that environment also plays a major role through the process of epigenesis by moderating gene expression with subsequent alterations in brain structure and function and allowing even modification of certain deficient structures.
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Choi, Bo Yoon, Munsoo Han, Ji Won Kwak, and Tae Hoon Kim. "Genetics and Epigenetics in Allergic Rhinitis." Genes 12, no. 12 (December 17, 2021): 2004. http://dx.doi.org/10.3390/genes12122004.
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The pathogenesis of allergic rhinitis is associated with genetic, environmental, and epigenetic factors. Genotyping of single nucleotide polymorphisms (SNPs) is an advanced technique in the field of molecular genetics that is closely correlated with genome-wide association studies (GWASs) in large population groups with allergic diseases. Many recent studies have paid attention to the role of epigenetics, including alteration of DNA methylation, histone acetylation, and miRNA levels in the pathogenesis of allergic rhinitis. In this review article, genetics and epigenetics of allergic rhinitis, including information regarding functions and significance of previously known and newly-discovered genes, are summarized. Directions for future genetic and epigenetic studies of allergic rhinitis are also proposed.
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Wu, Yue, Xiaosi Jin, Yuhao Zhang, Jing Zheng, and Rulai Yang. "Genetic and epigenetic mechanisms in the development of congenital heart diseases." World Journal of Pediatric Surgery 4, no. 2 (April 29, 2021): e000196. http://dx.doi.org/10.1136/wjps-2020-000196.
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Congenital heart disease (CHD) is the most common of congenital cardiovascular malformations associated with birth defects, and it results in significant morbidity and mortality worldwide. The classification of CHD is still elusive owing to the complex pathogenesis of CHD. Advances in molecular medicine have revealed the genetic basis of some heart anomalies. Genes associated with CHD might be modulated by various epigenetic factors. Thus, the genetic and epigenetic factors are gradually accepted as important triggers in the pathogenesis of CHD. However, few literatures have comprehensively elaborated the genetic and epigenetic mechanisms of CHD. This review focuses on the etiology of CHD from genetics and epigenetics to discuss the role of these factors in the development of CHD. The interactions between genetic and epigenetic in the pathogenesis of CHD are also elaborated. Chromosome abnormalities and gene mutations in genetics, and DNA methylations, histone modifications and on-coding RNAs in epigenetics are summarized in detail. We hope the summative knowledge of these etiologies may be useful for improved diagnosis and further elucidation of CHD so that morbidity and mortality of children with CHD can be reduced in the near future.
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Ivanov, Vladimir P., Timofey V. Timkin, Daria A. Boldina, and Marina G. Pakhtaeva. "Features of determining organometallic compounds in organic matters of black shale using diffuse reflectance infrared Fourier transform spectroscopy." Bulletin of the Tomsk Polytechnic University Geo Assets Engineering 335, no. 2 (February 28, 2024): 141–56. http://dx.doi.org/10.18799/24131830/2024/2/4462.
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Relevance. The problem of studying organometallic compounds in carbonized and carbonaceous substances is part of the global problem of the structure of natural materials from plant remains and manifestation of ore genesis in organic sedimentary deposits. This problem covers a number of issues. The most pressing one among them is the form of occurrence of finely dispersed gold in the form of organometallic compounds in metal-bearing coals and shales. This is especially true for large gold deposits of black shale strata. Aim. To study the relationship between sedimentation of organic formations and ore genesis in black shale deposits using the example of the Verninskoe deposit (Patom Highlands, Yakutia). Using the SKAUFV hardware and software complex together with ICP-MS and INAA methods, which allow one to assess the degree of Au concentration in organic matter, to substantiate the possibility of determining organometallic compounds of gold that are significant in the processes of sedimentogenesis, lithogenesis and epigenesis. Methods. IR spectroscopy, instrumental neutron activation analysis (INAA) and inductively coupled plasma mass spectrometry (ICP-MS). Results. The authors have determined that the SKAUFV hardware and software complex, together with the ICP-MS and INAA methods, makes it possible to establish the role of organic matter in metasomatism and to identify temperature zonality and the associated gold concentration in the ore zone. To determine the organometallic compounds of Au, structural and genetic indicators (Pm, Ko, PVt+L, PI) were selected. These indicators reflect the significance of sedimentation, diagenesis, catagenesis and epigenesis on Au concentration of in organic matter. These indicators made it possible to assess the level of temperature impact on sedimentary deposits of regional metamorphism and near-ore metasomatism. In this regard, subzones of Au concentration were established in the ore zone, determined by temperature zoning in the form of a manifestation of local metasomatism. The latter was influenced by the protein-fat composition of plants that form organic matter.
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Dupras, Charles, Yann Joly, and Emmanuelle Rial-Sebbag. "Human rights in the postgenomic era: Challenges and opportunities arising with epigenetics." Social Science Information 59, no. 1 (February 5, 2020): 12–34. http://dx.doi.org/10.1177/0539018419900139.
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Over the past twenty-five years, international organizations have adopted human rights declarations in an attempt to address emerging ethical, legal and social concerns associated with genetic research and technologies. While these declarations point to important challenges and potential issues in genetics, the focus on genetics has been criticized for promoting the idea that there is something unique about our genes, and that therefore, they deserve special protections in our laws. It is also argued that this ‘genetic exceptionalism’ perspective has contributed to a reinvigoration of genetic essentialism and determinism. In this article, we add to this criticism by pointing out gaps and flaws in current gene-focused human rights declarations in light of recent developments in the field of epigenetics. First, we show that these documents do not provide guidance for a responsible governance of epigenetic data (e.g., privacy protection) and an ethical use of individual epigenetic information (e.g., nondiscrimination). This is particularly concerning given the interest recently demonstrated by insurance companies, forensic scientists and immigration agencies in using epigenetic clock technologies. Second, we argue that findings in epigenetics could contribute to the promotion of second- and third- generation human rights, i.e., respectively, economic, social and cultural rights, and solidarity rights. We conclude by calling for international bioethics and human rights organizations to pay greater attention to epigenetics and other postgenomic sciences in the coming years.
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Chapelle, Valentine, and Frédéric Silvestre. "Population Epigenetics: The Extent of DNA Methylation Variation in Wild Animal Populations." Epigenomes 6, no. 4 (September 28, 2022): 31. http://dx.doi.org/10.3390/epigenomes6040031.
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Population epigenetics explores the extent of epigenetic variation and its dynamics in natural populations encountering changing environmental conditions. In contrast to population genetics, the basic concepts of this field are still in their early stages, especially in animal populations. Epigenetic variation may play a crucial role in phenotypic plasticity and local adaptation as it can be affected by the environment, it is likely to have higher spontaneous mutation rate than nucleotide sequences do, and it may be inherited via non-mendelian processes. In this review, we aim to bring together natural animal population epigenetic studies to generate new insights into ecological epigenetics and its evolutionary implications. We first provide an overview of the extent of DNA methylation variation and its autonomy from genetic variation in wild animal population. Second, we discuss DNA methylation dynamics which create observed epigenetic population structures by including basic population genetics processes. Then, we highlight the relevance of DNA methylation variation as an evolutionary mechanism in the extended evolutionary synthesis. Finally, we suggest new research directions by highlighting gaps in the knowledge of the population epigenetics field. As for our results, DNA methylation diversity was found to reveal parameters that can be used to characterize natural animal populations. Some concepts of population genetics dynamics can be applied to explain the observed epigenetic structure in natural animal populations. The set of recent advancements in ecological epigenetics, especially in transgenerational epigenetic inheritance in wild animal population, might reshape the way ecologists generate predictive models of the capacity of organisms to adapt to changing environments.
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Moore-Morris, Thomas, Patrick Piet van Vliet, Gregor Andelfinger, and Michel Puceat. "Role of Epigenetics in Cardiac Development and Congenital Diseases." Physiological Reviews 98, no. 4 (October 1, 2018): 2453–75. http://dx.doi.org/10.1152/physrev.00048.2017.
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The heart is the first organ to be functional in the fetus. Heart formation is a complex morphogenetic process regulated by both genetic and epigenetic mechanisms. Congenital heart diseases (CHD) are the most prominent congenital diseases. Genetics is not sufficient to explain these diseases or the impact of them on patients. Epigenetics is more and more emerging as a basis for cardiac malformations. This review brings the essential knowledge on cardiac biology of development. It further provides a broad background on epigenetics with a focus on three-dimensional conformation of chromatin. Then, we summarize the current knowledge of the impact of epigenetics on cardiac cell fate decision. We further provide an update on the epigenetic anomalies in the genesis of CHD.
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van Engeland, Manon, Sarah Derks, Kim M. Smits, Gerrit A. Meijer, and James G. Herman. "Colorectal Cancer Epigenetics: Complex Simplicity." Journal of Clinical Oncology 29, no. 10 (April 1, 2011): 1382–91. http://dx.doi.org/10.1200/jco.2010.28.2319.
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Colorectal cancer (CRC) has predominantly been considered a genetic disease, characterized by sequential accumulation of genetic alterations. Growing evidence indicates that epigenetic alterations add an additional layer of complexity to the pathogenesis of CRC, and characterize a subgroup of colorectal cancers with a distinct etiology and prognosis. Epigenetic dysregulation in colorectal cancer is organized at multiple levels, involving DNA methylation, histone modifications, nucleosomal occupancy and remodeling, chromatin looping, and noncoding RNAs. Interactions between these processes and complex associations with genetic alterations have recently been unraveled. It appears that CRC epigenetics will be the paradigm for multistep carcinogenesis, as CRC genetics has been for the past three decades. This review integrates recent data on epigenetic regulation of gene expression in CRC and describes how the understanding of these processes will alter the management of CRC.
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Wasti, Binaya, Shao-kun Liu, and Xu-Dong Xiang. "Role of Epigenetics in the Pathogenesis, Treatment, Prediction, and Cellular Transformation of Asthma." Mediators of Inflammation 2021 (September 15, 2021): 1–18. http://dx.doi.org/10.1155/2021/9412929.
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Asthma is a mysterious disease with heterogeneity in etiology, pathogenesis, and clinical phenotypes. Although ongoing studies have provided a better understanding of asthma, its natural history, progression, pathogenesis, diversified phenotypes, and even the exact epigenetic linkage between childhood asthma and adult-onset/old age asthma remain elusive in many aspects. Asthma heritability has been established through genetic studies, but genetics is not the only influencing factor in asthma. The increasing incidence and some unsolved queries suggest that there may be other elements related to asthma heredity. Epigenetic mechanisms link genetic and environmental factors with developmental trajectories in asthma. This review provides an overview of asthma epigenetics and its components, including several epigenetic studies on asthma, and discusses the epigenetic linkage between childhood asthma and adult-onset/old age asthma. Studies involving asthma epigenetics present valuable novel approaches to solve issues related to asthma. Asthma epigenetic research guides us towards gene therapy and personalized T cell therapy, directs the discovery of new therapeutic agents, predicts long-term outcomes in severe cases, and is also involved in the cellular transformation of childhood asthma to adult-onset/old age asthma.
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Keverne, Barry. "The Significance of Genomic Imprinting for Brain Development and Behaviour." Nutrition and Health 19, no. 1-2 (July 2007): 133–34. http://dx.doi.org/10.1177/026010600701900214.
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Professor Barry Keverne FRS, FMedSci – Behavioural Neuroscience, King's College, Cambridge, described how genomic imprinting provides for co-adaptation of mother and fetus, for maternal provision and fetal use of resources. On the other hand it is open to genetic transmission of clinical disorders, for instance Prada-Willli syndrome leading to obesity, and Angelman's syndrome with mental retardation. Among vertebrates, genomic imprinting only evolved in mammals and the placenta is a primary target for expression of imprinted genes. There are certain autosomal genes in mammals that are only expressed if inherited from one parent rather than from the other. More often the paternal gene – allele – is expressed which means that the maternal allele is silenced, usually by methylation, bonding of a CH3 group. Genomic imprinting, distinct from epigenesis, occurs in germ-line cells, ensuring transgenerational effects. Epigenesis, in somatic cells, is usually restricted to one generation, although if it causes a change of behaviour – better mothering say – that can have consequences in the next generation by social transmission. Imprinting is reversible according to parent of origin and there is no change in the gene sequence, as occurs by mutation. Genomic imprinting acts primarily through key regulatory genes which in turn have a cascade effect through other genes. Possible effects vary widely, for instance the mother's food intake and weight gain; maternal fat and blood glucose; letdown of milk and post-natal pup growth. Other affects include her maternal behaviour, nest-building, and placental hormones, placental blood flow and nutrient transfer, fetal growth, and early weaning and puberty onset. In these ways the placenta enables the fetus to regulate its own destiny, mainly by genomic co-adaptation affecting hormonal action on receptors in the maternal hypothalamus. The two genomes, infant and maternal, are co-adaptive for infant wellbeing and reproductive success. Offspring that have extracted “good” maternal nurturing through imprinted genes will themselves be genetically predisposed towards good mothering. Through imprinting, a gene contributing to fitness is established in the population more quickly, especially when paternally expressed due to the greater reproductive fitness of males expressing this allele. Although genomic imprinting affects hormonal activity and nutrient metabolism, there is no evidence for hormones or nutrients affecting genomic imprinting. Hormones and nutrients can, particularly in early life, epigenetically affect the individual's future life for better or for worse, and significantly contribute to “foetal programming”.
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Ni, Biao, Jian You, Jiangnan Li, Yingda Du, Wei Zhao, and Xia Chen. "Genetic and Epigenetic Changes during the Upward Expansion of Deyeuxia angustifolia Kom. in the Alpine Tundra of the Changbai Mountains, China." Plants 10, no. 2 (February 3, 2021): 291. http://dx.doi.org/10.3390/plants10020291.
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Ecological adaptation plays an important role in the process of plant expansion, and genetics and epigenetics are important in the process of plant adaptation. In this study, genetic and epigenetic analyses and soil properties were performed on D. angustifolia of 17 populations, which were selected in the tundra zone on the western slope of the Changbai Mountains. Our results showed that the levels of genetic and epigenetic diversity of D. angustifolia were relatively low, and the main variation occurred among different populations (amplified fragment length polymorphism (AFLP): 95%, methylation sensitive amplification polymorphism (MSAP): 87%). In addition, DNA methylation levels varied from 23.36% to 35.70%. Principal component analysis (PCA) results showed that soil properties of different populations were heterogeneous. Correlation analyses showed that soil moisture, pH and total nitrogen were significantly correlated with genetic diversity of D. angustifolia, and soil temperature and pH were closely related to epigenetic diversity. Simple Mantel tests and partial Mantel tests showed that genetic variation significantly correlated with habitat or geographical distance. However, the correlation between epigenetic variation and habitat or geographical distance was not significant. Our results showed that, in the case of low genetic variation and genetic diversity, epigenetic variation and DNA methylation may provide a basis for the adaptation of D. angustifolia.
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Wedemeyer, Friederike, Jakob A. Kaminski, Lea Zillich, Alisha S. M. Hall, Eva Friedel, and Stephanie H. Witt. "Prospects of Genetics and Epigenetics of Alcohol Use Disorder." Current Addiction Reports 7, no. 4 (September 15, 2020): 446–52. http://dx.doi.org/10.1007/s40429-020-00331-x.
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Abstract Purpose of Review In this study, we illustrate recent findings regarding the genetics and epigenetics of alcohol use disorder (AUD). We further outline the future direction of genetic and epigenetic research in AUD. Recent Findings Recent genome- and epigenome-wide studies allow new insight into genetic and epigenetic variation associated with AUD. The largest EWAS of AUD so far/to date found evidence for altered glucocorticoid receptor regulation. Longitudinal studies provide insight into the dynamics of the disease. Analyses of postmortem brain tissue reveal the impact of chronic alcohol consumption on DNA methylation in the brain. Summary Genetic and environmental factors—mediated via epigenetic mechanisms—play an important role in AUD. Although knowledge of the biological underpinnings of AUD is still limited, ongoing research will ultimately lead to the development of biomarkers for disease classification, course of disease, and treatment response to support personalized medicine in the future.
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Hall, Layla, and Elizabeth Kelley. "The contribution of epigenetics to understanding genetic factors in autism." Autism 18, no. 8 (October 14, 2013): 872–81. http://dx.doi.org/10.1177/1362361313503501.
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Autism spectrum disorder is a grouping of neurodevelopmental disorders characterized by deficits in social communication and language, as well as by repetitive and stereotyped behaviors. While the environment is believed to play a role in the development of autism spectrum disorder, there is now strong evidence for a genetic link to autism. Despite such evidence, studies investigating a potential single-gene cause for autism, although insightful, have been highly inconclusive. A consideration of an epigenetic approach proves to be very promising in clarifying genetic factors involved in autism. The present article is intended to provide a review of key findings pertaining to epigenetics in autism in such a way that a broader audience of individuals who do not have a strong background in genetics may better understand this highly specific and scientific content. Epigenetics refers to non-permanent heritable changes that alter expression of genes without altering the DNA sequence itself and considers the role of environment in this modulation of gene expression. This review provides a brief description of epigenetic processes, highlights evidence in the literature of epigenetic dysregulation in autism, and makes use of noteworthy findings to illustrate how a consideration of epigenetic factors can deepen our understanding of the development of autism. Furthermore, this discussion will present a promising new way for moving forward in the investigation of genetic factors within autism.
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Klokkaris, Anthony, and Anna Migdalska-Richards. "An Overview of Epigenetic Changes in the Parkinson’s Disease Brain." International Journal of Molecular Sciences 25, no. 11 (June 3, 2024): 6168. http://dx.doi.org/10.3390/ijms25116168.
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Parkinson’s disease is a progressive neurodegenerative disorder, predominantly of the motor system. Although some genetic components and cellular mechanisms of Parkinson’s have been identified, much is still unknown. In recent years, emerging evidence has indicated that non-DNA-sequence variation (in particular epigenetic mechanisms) is likely to play a crucial role in the development and progression of the disease. Here, we present an up-to-date overview of epigenetic processes including DNA methylation, DNA hydroxymethylation, histone modifications and non-coding RNAs implicated in the brain of those with Parkinson’s disease. We will also discuss the limitations of current epigenetic research in Parkinson’s disease, the advantages of simultaneously studying genetics and epigenetics, and putative novel epigenetic therapies.
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Hamamoto, Ryuji, Masaaki Komatsu, Ken Takasawa, Ken Asada, and Syuzo Kaneko. "Epigenetics Analysis and Integrated Analysis of Multiomics Data, Including Epigenetic Data, Using Artificial Intelligence in the Era of Precision Medicine." Biomolecules 10, no. 1 (December 30, 2019): 62. http://dx.doi.org/10.3390/biom10010062.
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To clarify the mechanisms of diseases, such as cancer, studies analyzing genetic mutations have been actively conducted for a long time, and a large number of achievements have already been reported. Indeed, genomic medicine is considered the core discipline of precision medicine, and currently, the clinical application of cutting-edge genomic medicine aimed at improving the prevention, diagnosis and treatment of a wide range of diseases is promoted. However, although the Human Genome Project was completed in 2003 and large-scale genetic analyses have since been accomplished worldwide with the development of next-generation sequencing (NGS), explaining the mechanism of disease onset only using genetic variation has been recognized as difficult. Meanwhile, the importance of epigenetics, which describes inheritance by mechanisms other than the genomic DNA sequence, has recently attracted attention, and, in particular, many studies have reported the involvement of epigenetic deregulation in human cancer. So far, given that genetic and epigenetic studies tend to be accomplished independently, physiological relationships between genetics and epigenetics in diseases remain almost unknown. Since this situation may be a disadvantage to developing precision medicine, the integrated understanding of genetic variation and epigenetic deregulation appears to be now critical. Importantly, the current progress of artificial intelligence (AI) technologies, such as machine learning and deep learning, is remarkable and enables multimodal analyses of big omics data. In this regard, it is important to develop a platform that can conduct multimodal analysis of medical big data using AI as this may accelerate the realization of precision medicine. In this review, we discuss the importance of genome-wide epigenetic and multiomics analyses using AI in the era of precision medicine.
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Page, J., F. Mukhlish, and M. Bain. "Ensuring the Alignment of Genetic/Epigenetic Designed Swarms." Mathematical machines and systems 1 (2022): 3–11. http://dx.doi.org/10.34121/1028-9763-2022-1-3-11.
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One of the major concerns of AI researchers and implementers is how to ensure that the systems stay aligned with the aspirations of the humans they interact with. This problem becomes even more complex for systems that develop their own operational rules and where multiple agents are involved. The paper addresses some of the implications of using genetic/epigenetic design techniques where the control structure is developed without direct human involvement. This presents particular difficulties in ensuring that the control protocols stay aligned with the desires of the instigators and do not cause unpredicted harm. It also explores how this problem is further complicated when the AI system has many agents. Modern control systems are often decentralized which provides a more robust solution than using a central controller. A specific example of this approach is Self-Organising Swarms where the agents act independently of the central control. From an alignment point of view, it generates particular problems. Not only must the individual agents act in the best human interest but the swarm as a collective must do it as well. This is difficult for a homogeneous swarm and no proposal for a heterogeneous one has yet been made. There have been and continue to be considerable research and discussions on how to create and what form a global AI ethics might take, but any progress has been slow. This is partly because even the Universal Declaration of Human Rights has difficulties. All the nations that have signed up to the UN Human Rights Declaration believe they are at least trying to implement it. The problem is in the interpretation where many signatories believe others are in breach. The same would apply to any universal AI ethics agreement. This paper proposes a solution where the AI systems’ basic ethics are individual but have to comply where they interface with either other AI entities or humans.
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Effendi, Wiwin Is, and Tatsuya Nagano. "Epigenetics Approaches toward Precision Medicine for Idiopathic Pulmonary Fibrosis: Focus on DNA Methylation." Biomedicines 11, no. 4 (March 28, 2023): 1047. http://dx.doi.org/10.3390/biomedicines11041047.
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Genetic information is not transmitted solely by DNA but by the epigenetics process. Epigenetics describes molecular missing link pathways that could bridge the gap between the genetic background and environmental risk factors that contribute to the pathogenesis of pulmonary fibrosis. Specific epigenetic patterns, especially DNA methylation, histone modifications, long non-coding, and microRNA (miRNAs), affect the endophenotypes underlying the development of idiopathic pulmonary fibrosis (IPF). Among all the epigenetic marks, DNA methylation modifications have been the most widely studied in IPF. This review summarizes the current knowledge concerning DNA methylation changes in pulmonary fibrosis and demonstrates a promising novel epigenetics-based precision medicine.
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Vrânceanu, Maria, Simona-Codruţa Hegheş, Anamaria Cozma-Petruţ, Roxana Banc, Carmina Mariana Stroia, Viorica Raischi, Doina Miere, Daniela-Saveta Popa, and Lorena Filip. "Plant-Derived Nutraceuticals Involved in Body Weight Control by Modulating Gene Expression." Plants 12, no. 12 (June 11, 2023): 2273. http://dx.doi.org/10.3390/plants12122273.
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Obesity is the most prevalent health problem in the Western world, with pathological body weight gain associated with numerous co-morbidities that can be the main cause of death. There are several factors that can contribute to the development of obesity, such as diet, sedentary lifestyle, and genetic make-up. Genetic predispositions play an important role in obesity, but genetic variations alone cannot fully explain the explosion of obesity, which is why studies have turned to epigenetics. The latest scientific evidence suggests that both genetics and environmental factors contribute to the rise in obesity. Certain variables, such as diet and exercise, have the ability to alter gene expression without affecting the DNA sequence, a phenomenon known as epigenetics. Epigenetic changes are reversible, and reversibility makes these changes attractive targets for therapeutic interventions. While anti-obesity drugs have been proposed to this end in recent decades, their numerous side effects make them not very attractive. On the other hand, the use of nutraceuticals for weight loss is increasing, and studies have shown that some of these products, such as resveratrol, curcumin, epigallocatechin-3-gallate, ginger, capsaicin, and caffeine, can alter gene expression, restoring the normal epigenetic profile and aiding weight loss.
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Sharma, Vivek Kumar, Vineet Mehta, and Thakur Gurjeet Singh. "Alzheimer’s Disorder: Epigenetic Connection and Associated Risk Factors." Current Neuropharmacology 18, no. 8 (September 9, 2020): 740–53. http://dx.doi.org/10.2174/1570159x18666200128125641.
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Abstract : The gene based therapeutics and drug targets have shown incredible and appreciable advances in alleviating human sufferings and complexities. Epigenetics simply means above genetics or which controls the organism beyond genetics. At present it is very clear that all characteristics of an individual are not determined by DNA alone, rather the environment, stress, life style and nutrition play a vital part in determining the response of an organism. Thus, nature (genetic makeup) and nurture (exposure) play equally important roles in the responses observed, both at the cellular and organism levels. Epigenetics influence plethora of complications at cellular and molecular levels that includes cancer, metabolic and cardiovascular complications including neurological (psychosis) and neurodegenerative disorders (Alzheimer’s disease, Parkinson disease etc.). The epigenetic mechanisms include DNA methylation, histone modification and non coding RNA which have substantial impact on progression and pathways linked to Alzheimer’s disease. The epigenetic mechanism gets deregulated in Alzheimer’s disease and is characterized by DNA hyper methylation, deacetylation of histones and general repressed chromatin state which alter gene expression at the transcription level by upregulation, downregulation or silencing of genes. Thus, the processes or modulators of these epigenetic processes have shown vast potential as a therapeutic target in Alzheimer’s disease.
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Mellor, Jane. "Introduction." Biochemist 32, no. 5 (October 1, 2010): 6–7. http://dx.doi.org/10.1042/bio03205006.
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To correctly read the information stored in our DNA genomes (the genetic code), cells must read another language that overlays it, the epigenetic code, which controls access to that information. A process such as transcription can only retrieve this information according to the access granted by the epigenome. The term epigenetics was coined in the 1940s by British embryologist and geneticist Conrad Waddington to describe “the interaction of genes with their environment, which bring the phenotype into being”. Now the term epigenetics (literally over or above genetics) refers to the extra layers of instructions that influence gene activity without altering the DNA sequence. There are three main components to the epigenetic code: (i) methylated cytosine residues in DNA1; (ii) the range of post-translational modifications to the core histone proteins within the nucleosomes (referred to as the histone code)2,3; and (iii) RNA molecules, often non-coding RNA4.
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Cespiati, Annalisa, Neil A. Youngson, Aikaterini Tourna, and Luca Valenti. "Genetics and Epigenetics in the Clinic: Precision Medicine in the Management of Fatty Liver Disease." Current Pharmaceutical Design 26, no. 10 (April 24, 2020): 998–1009. http://dx.doi.org/10.2174/1381612826666200122151251.
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This narrative review will discuss the current evidence supporting the possible application of precision or personalized medicine to the management of nonalcoholic or “metabolic” fatty liver disease (NAFLD), based on recent progress in the understanding of the genetics and epigenetics of the disease. The prevalence of NAFLD, which can progress to cirrhosis and hepatocellular carcinoma, is constantly increasing worldwide. Accurate noninvasive predictors of liver disease progression, as well as of cardiovascular complications of NAFLD, are urgently needed. Evidence is now reporting that the genetic and epigenetic factors involved in NAFLD development can be used to develop risk scores for liver-related complications, which may show the possibility to implement programs for targeted screening and surveillance of complications. Moreover, genetic and epigenetic factors identifying specific sub-phenotypes of NAFLD can predict the individual response to pharmacological therapies. Finally, we describe opportunities for gene-targeted therapeutic approaches in NAFLD, where the genetic variants represent therapeutic targets for precision therapy approaches.
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Kibitov, А. А., and G. E. Mazo. "Genetics and Epigenetics of Nonsuicidal Self-Injury: a Narrative Review." Генетика 59, no. 12 (December 1, 2023): 1347–59. http://dx.doi.org/10.31857/s0016675823120032.
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Nonsuicidal self-injury (NSSI), or self-harm is widely spread, especially among the young people. However, despite the problem’s relevance, NSSI was investigated mainly from the psychological and social perspective, while a fairly small number of biological studies of NSSI have been published to date. The aim of this narrative review was to analyze all the currently available publications on the genetics and epigenetics of NSSI – one of the most promising areas in biological research. We discussed and analyzed all stages of genetic research of NSSI: from twin studies and studies of self-harm in the framework of hereditary diseases to candidate genes, genome-wide, epigenetic and gene-environment interactions studies. We demonstrated data indicating significant contribution of genetic and epigenetic factors to the development of NSSI, discussed advantages and limitations of analyzed studies, outlined prospects for further research in this area.
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Flavahan, William A. "Epigenetic plasticity, selection, and tumorigenesis." Biochemical Society Transactions 48, no. 4 (August 14, 2020): 1609–21. http://dx.doi.org/10.1042/bst20191215.
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Epigenetic processes converge on chromatin in order to direct a cell's gene expression profile. This includes both maintaining a stable cell identity, but also priming the cell for specific controlled transitions, such as differentiation or response to stimuli. In cancer, this normally tight control is often disrupted, leading to a wide scale hyper-plasticity of the epigenome and allowing stochastic gene activation and silencing, cell state transition, and potentiation of the effects of genetic lesions. Many of these epigenetic disruptions will confer a proliferative advantage to cells, allowing for a selection process to occur and leading to tumorigenesis even in the case of reversible or unstable epigenetic states. This review seeks to highlight how the fundamental epigenetic shifts in cancer contribute to tumorigenesis, and how understanding an integrated view of cancer genetics and epigenetics may more effectively guide research and treatment.
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Graham, Jason R., Jay S. Johnson, Andre C. Araujo, Jeremy T. Howard, and Luiz F. Brito. "PSXV-9 Transgenerational epigenetic variance for production and reproduction traits in maternal-line pigs." Journal of Animal Science 99, Supplement_3 (October 8, 2021): 258–59. http://dx.doi.org/10.1093/jas/skab235.472.
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Abstract Modeling epigenetic factors impacting phenotypic expression of economically important traits has become a hot-topic in the field of animal breeding due to the variability in genetic expression caused by environmental stressors (e.g., heat stress). This variability may be due, in part, to in-utero epigenomic remodeling, which has been reported to be passed from parent to offspring. We aimed to estimate transgenerational epigenetic variance for various production and reproduction traits measured in a maternal-line pig population, using a Bayesian approach. The phenotypes for production [n = 10,862; i.e., weaning weight (WW), birth weight (BW) and ultrasound-backfat thickness (BF)] and reproduction [n = 5,235, i.e., number of piglets born alive (NBA) and total number of piglets born (TB)] traits from a purebred Landrace population were provided by Smithfield Premium Genetics (NC, USA). The pedigree information traced back to 10 generations. Single-trait genetic analyses were performed using mixed models that included additive genetic, common environmental, and epigenetic random effects. The Gibbs sampler algorithm based on Markov chain Monte Carlo was used to estimate the variance components. The epigenetic relationship matrix was constructed using a recursive parameter (λ) related to the transmissibility coefficient of epigenetic markers. A grid search approach was used to define the optimal λ value (λ values ranged from 0.1 to 0.5, with an interval of 0.1). The optimal λ value was determined based on the deviance information criterion, and it was used to estimate the additive and epigenetic variances. For instance, based on preliminary results, the optimal λ value estimated for TB was 0.3 with an additive genetic variance of 0.94 (0.19 PSD) and epigenetic variance of 0.67 (0.18 PSD). The additive genetic heritability was 0.076 (0.015 PSD) and the estimated epigenetic heritability was 0.053 (0.015 PSD). This preliminary result suggests that epigenetics contribute to the non-Mendelian variability in pigs.
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Waghmare, Sagar S., O. G. Bhusnure, M. R. Mali, and S. T. Mule. "Epigenetics: Pharmacology and Modification Mechanisms Involved in Cardiac, Hepatic and Renal Disease." Journal of Drug Delivery and Therapeutics 10, no. 4 (July 15, 2020): 260–66. http://dx.doi.org/10.22270/jddt.v10i4.4148.
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For a long time scientists have tried to describe disorders are due to genetic as well as environmental factors. In the past few years, revolution in technology that has made it possible to decipher the human genome. Epigenetics explains the capability gene expression regulation without modifying the genetic sequence. Epigenetic mechanisms are rooted changes in molecules, or nuclear characteristics that can alter gene expression without altering the sequences of DNA, i.e. DNA methylation, histone modification, and non-coding RNAs. Learning of the fundamental epigenetic modification allowing gene expression as well as cellular phenotype are advanced that novel insights into the epigenetic control of cardiovascular disease, hepatic disease, as well as chronic kidney disease are now emerging. From a half of century ago, in human disease the role of epigenetics has been considered. This subject has attracted many interests in the past decade, especially in complicated diseases like cardiovascular disease, hepatic disease as well as chronic kidney disease. This review first illustrates the history and classification of epigenetic modifications and the factors (i.e. genetic, environment, dietary, thought process and lifestyle) affecting to the epigenetics mechanisms. Likewise, the epigenetics role in human diseases is think out by targeting on some diseases and at the end, we have given the future perspective of this field. This review article provides concepts with some examples to describe a broad view of distinct aspects of epigenetics in biology and human diseases.
Keywords: - Epigenetics, DNA methylation, Histone modifications, microRNAs and Gene expression and Disease.
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Biwer, C., B. Kawam, V. Chapelle, and F. Silvestre. "The Role of Stochasticity in the Origin of Epigenetic Variation in Animal Populations." Integrative and Comparative Biology 60, no. 6 (May 29, 2020): 1544–57. http://dx.doi.org/10.1093/icb/icaa047.
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Synopsis Epigenetic mechanisms such as DNA methylation modulate gene expression in a complex fashion are consequently recognized as among the most important contributors to phenotypic variation in natural populations of plants, animals, and microorganisms. Interactions between genetics and epigenetics are multifaceted and epigenetic variation stands at the crossroad between genetic and environmental variance, which make these mechanisms prominent in the processes of adaptive evolution. DNA methylation patterns depend on the genotype and can be reshaped by environmental conditions, while transgenerational epigenetic inheritance has been reported in various species. On the other hand, DNA methylation can influence the genetic mutation rate and directly affect the evolutionary potential of a population. The origin of epigenetic variance can be attributed to genetic, environmental, or stochastic factors. Generally less investigated than the first two components, variation lacking any predictable order is nevertheless present in natural populations and stochastic epigenetic variation, also referred to spontaneous epimutations, can sustain phenotypic diversity. Here, potential sources of such stochastic epigenetic variability in animals are explored, with a focus on DNA methylation. To this day, quantifying the importance of stochasticity in epigenetic variability remains a challenge. However, comparisons between the mutation and the epimutation rates showed a high level of the latter, suggesting a significant role of spontaneous epimutations in adaptation. The implications of stochastic epigenetic variability are multifold: by affecting development and subsequently phenotype, random changes in epigenetic marks may provide additional phenotypic diversity, which can help natural populations when facing fluctuating environments. In isogenic lineages and asexually reproducing organisms, poor or absent genetic diversity can hence be tolerated. Further implication of stochastic epigenetic variability in adaptation is found in bottlenecked invasive species populations and populations using a bet-hedging strategy.
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Tsai, Chia-Hsuan, and Rei Ogawa. "Keloid research: current status and future directions." Scars, Burns & Healing 5 (January 2019): 205951311986865. http://dx.doi.org/10.1177/2059513119868659.
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Introduction: Keloids and hypertrophic scars are fibroproliferative disorders of the skin that result from abnormal healing of injured or irritated skin. Multiple studies suggest that genetic, systemic and local factors may contribute to the development and/or growth of keloids and hypertrophic scars. A key local factor may be mechanical stimuli. Here, we provide an up-to-date review of the studies on the roles that genetic variation, epigenetic modifications and mechanotransduction play in keloidogenesis. Methods: An English literature review was performed by searching the PubMed, Embase and Web of Science databases with the following keywords: genome-wide association study; epigenetics; non-coding RNA; microRNA; long non-coding RNA (lncRNA); DNA methylation; mechanobiology; and keloid. The searches targeted the time period between the date of database inception and July 2018. Results: Genetic studies identified several single-nucleotide polymorphisms and gene linkages that may contribute to keloid pathogenesis. Epigenetic modifications caused by non-coding RNAs (e.g. microRNAs and lncRNAs) and DNA methylation may also play important roles by inducing the persistent activation of keloidal fibroblasts. Mechanical forces and the ensuing cellular mechanotransduction may also influence the degree of scar formation, scar contracture and the formation/progression of keloids and hypertrophic scars. Conclusions: Recent research indicates that the formation/growth of keloids and hypertrophic scars associate clearly with genetic, epigenetic, systemic and local risk factors, particularly skin tension around scars. Further research into scar-related genetics, epigenetics and mechanobiology may reveal molecular, cellular or tissue-level targets that could lead to the development of more effective prophylactic and therapeutic strategies for wounds/scars in the future.
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Gahlaut, Vijay, Gaurav Zinta, Vandana Jaiswal, and Sanjay Kumar. "Quantitative Epigenetics: A New Avenue for Crop Improvement." Epigenomes 4, no. 4 (November 7, 2020): 25. http://dx.doi.org/10.3390/epigenomes4040025.
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Plant breeding conventionally depends on genetic variability available in a species to improve a particular trait in the crop. However, epigenetic diversity may provide an additional tier of variation. The recent advent of epigenome technologies has elucidated the role of epigenetic variation in shaping phenotype. Furthermore, the development of epigenetic recombinant inbred lines (epi-RILs) in model species such as Arabidopsis has enabled accurate genetic analysis of epigenetic variation. Subsequently, mapping of epigenetic quantitative trait loci (epiQTL) allowed association between epialleles and phenotypic traits. Likewise, epigenome-wide association study (EWAS) and epi-genotyping by sequencing (epi-GBS) have revolutionized the field of epigenetics research in plants. Thus, quantitative epigenetics provides ample opportunities to dissect the role of epigenetic variation in trait regulation, which can be eventually utilized in crop improvement programs. Moreover, locus-specific manipulation of DNA methylation by epigenome-editing tools such as clustered regularly interspaced short palindromic repeats/CRISPR-associated protein 9 (CRISPR/Cas9) can potentially facilitate epigenetic based molecular breeding of important crop plants.
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Miteva, Dimitrina, Snezhina Lazova, and Tsvetelina Velikova. "Genetic and Epigenetic Factors in Risk and Susceptibility for Childhood Asthma." Allergies 3, no. 2 (June 14, 2023): 115–33. http://dx.doi.org/10.3390/allergies3020009.
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Asthma is a common respiratory disease that affects people of all ages, characterized by considerable heterogeneity in age, clinical presentation, genetics, epigenetics, environmental factors, treatment response, and prognostic outcomes. Asthma affects more than 330 million people worldwide, of which 33% are children under 14 years, and 27% are adults whose first symptoms occurred in childhood. However, the genetic and epigenetic mechanisms of childhood allergic diseases and asthma are still not fully understood. Here, we conducted a biomedical narrative review of genes associated with the risk, severity, and susceptibility of childhood asthma since it differs from asthma in adults regarding their pathophysiology, development, and outcomes. We also systematized the available information on epigenetic changes associated with childhood asthma.
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Beyes, Sven, Naiara Garcia Bediaga, and Alessio Zippo. "An Epigenetic Perspective on Intra-Tumour Heterogeneity: Novel Insights and New Challenges from Multiple Fields." Cancers 13, no. 19 (October 3, 2021): 4969. http://dx.doi.org/10.3390/cancers13194969.
Full textAbstract:
Cancer is a group of heterogeneous diseases that results from the occurrence of genetic alterations combined with epigenetic changes and environmental stimuli that increase cancer cell plasticity. Indeed, multiple cancer cell populations coexist within the same tumour, favouring cancer progression and metastatic dissemination as well as drug resistance, thereby representing a major obstacle for treatment. Epigenetic changes contribute to the onset of intra-tumour heterogeneity (ITH) as they facilitate cell adaptation to perturbation of the tumour microenvironment. Despite being its central role, the intrinsic multi-layered and reversible epigenetic pattern limits the possibility to uniquely determine its contribution to ITH. In this review, we first describe the major epigenetic mechanisms involved in tumourigenesis and then discuss how single-cell-based approaches contribute to dissecting the key role of epigenetic changes in tumour heterogeneity. Furthermore, we highlight the importance of dissecting the interplay between genetics, epigenetics, and tumour microenvironments to decipher the molecular mechanisms governing tumour progression and drug resistance.
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Olejnik-Wojciechowska, Joanna, Dominika Boboryko, Aleksandra Wiktoria Bratborska, Klaudia Rusińska, Piotr Ostrowski, Magdalena Baranowska, and Andrzej Pawlik. "The Role of Epigenetic Factors in the Pathogenesis of Psoriasis." International Journal of Molecular Sciences 25, no. 7 (March 29, 2024): 3831. http://dx.doi.org/10.3390/ijms25073831.
Full textAbstract:
Psoriasis is a chronic inflammatory skin disease, the prevalence of which is increasing. Genetic, genomic, and epigenetic changes play a significant role in the pathogenesis of psoriasis. This review summarizes the impact of epigenetics on the development of psoriasis and highlights challenges for the future. The development of epigenetics provides a basis for the search for genetic markers associated with the major histocompatibility complex. Genome-wide association studies have made it possible to link psoriasis to genes and therefore to epigenetics. The acquired knowledge may in the future serve as a solid foundation for developing newer, increasingly effective methods of treating psoriasis. In this narrative review, we discuss the role of epigenetic factors in the pathogenesis of psoriasis.
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Kiełbowski, Kajetan, Mariola Herian, Estera Bakinowska, Bolesław Banach, Tomasz Sroczyński, and Andrzej Pawlik. "The Role of Genetics and Epigenetic Regulation in the Pathogenesis of Osteoarthritis." International Journal of Molecular Sciences 24, no. 14 (July 19, 2023): 11655. http://dx.doi.org/10.3390/ijms241411655.
Full textAbstract:
Osteoarthritis (OA) is progressive disease characterised by cartilage degradation, subchondral bone remodelling and inflammation of the synovium. The disease is associated with obesity, mechanical load and age. However, multiple pro-inflammatory immune mediators regulate the expression of metalloproteinases, which take part in cartilage degradation. Furthermore, genetic factors also contribute to OA susceptibility. Recent studies have highlighted that epigenetic mechanisms may regulate the expression of OA-associated genes. This review aims to present the mechanisms of OA pathogenesis and summarise current evidence regarding the role of genetics and epigenetics in this process.
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Loison, Laurent. "Epigenetic inheritance and evolution: a historian's perspective." Philosophical Transactions of the Royal Society B: Biological Sciences 376, no. 1826 (April 19, 2021): 20200120. http://dx.doi.org/10.1098/rstb.2020.0120.
Full textAbstract:
The aim of this article is to put the growing interest in epigenetics in the field of evolutionary theory into a historical context. First, I assess the view that epigenetic inheritance could be seen as vindicating a revival of (neo)Lamarckism. Drawing on Jablonka's and Lamb's considerable output, I identify several differences between modern epigenetics and what Lamarckism was in the history of science. Even if Lamarckism is not back, epigenetic inheritance might be appealing for evolutionary biologists because it could potentiate two neglected mechanisms: the Baldwin effect and genetic assimilation. Second, I go back to the first ideas about the Baldwin effect developed in the late nineteenth century to show that the efficiency of this mechanism was already linked with a form of non-genetic inheritance. The opposition to all forms of non-genetic inheritance that prevailed at the time of the rise of the Modern Synthesis helps to explain why the Baldwin effect was understood as an insignificant mechanism during the second half of the twentieth century. Based on this historical reconstruction, in §4, I examine what modern epigenetics can bring to the picture and under what conditions epigenetic inheritance might be seen as strengthening the causal relationship between adaptability and adaptation. Throughout I support the view that the Baldwin effect and genetic assimilation, even if they are quite close, should not be conflated, and that drawing a line between these concepts is helpful in order to better understand where epigenetic inheritance might endorse a new causal role. This article is part of the theme issue ‘How does epigenetics influence the course of evolution?’