Advances in Genetics最新文献

Shaping mammalian genomes: The regulation and co-option of transposable elements in early development and gametogenesis. 哺乳动物基因组的形成：转座因子在早期发育和配子发生中的调控和共选择。

4区生物学

Advances in Genetics Pub Date : 2026-01-01 Epub Date: 2026-03-27 DOI: 10.1016/bs.adgen.2026.03.001

Antonio Docavo Garcia, Joanna W Jachowicz

{"title":"Shaping mammalian genomes: The regulation and co-option of transposable elements in early development and gametogenesis.","authors":"Antonio Docavo Garcia, Joanna W Jachowicz","doi":"10.1016/bs.adgen.2026.03.001","DOIUrl":"10.1016/bs.adgen.2026.03.001","url":null,"abstract":"Transposable elements (TEs), or mobile genetic elements, are fragments of DNA capable of moving from one genomic location to another. Traditionally, transposons have been considered selfish genetic elements because they increase their copy number by jumping into new genomic locations and causing genomic instability. In mammals, TEs make up a substantial portion of the genome, far exceeding the fraction occupied by protein-coding genes or regulatory elements such as promoters or enhancers, but only a small fraction is still able to mobilize. Additionally, in most adult cells, TE expression is largely silenced by epigenetic mechanisms and other pathways that protect the genome from the deleterious consequences of TE expression. However, during gametogenesis and early development, epigenetic reprogramming creates a window in which TEs can be expressed. Throughout evolution, host genomes have repurposed transposon-derived sequences to exert a function in a process known as co-option. Here, we summarize how TE expression is regulated and can be harnessed for the host's benefit, with a particular focus on the co-option of TEs during gametogenesis and early development, and present current evidence for their extensive regulatory roles.","PeriodicalId":50949,"journal":{"name":"Advances in Genetics","volume":"116 ","pages":"55-100"},"PeriodicalIF":0.0,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148139630","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

The implication of lncRNAs in the regulation of inflammation. lncrna在炎症调节中的意义。

4区生物学

Advances in Genetics Pub Date : 2026-01-01 Epub Date: 2025-12-29 DOI: 10.1016/bs.adgen.2025.11.006

Izei Pascual-González, Henar Rojas-Márquez

引用次数: 0

Transposable elements in human cancer: Regulation, activation, and genomic consequences. 人类癌症中的转座因子：调控、激活和基因组后果。

4区生物学

Advances in Genetics Pub Date : 2026-01-01 Epub Date: 2025-12-17 DOI: 10.1016/bs.adgen.2025.11.004

Layla Diaz-Portal, Jesús Emiliano Sotelo-Fonseca, Bernardo Rodriguez-Martin

{"title":"Transposable elements in human cancer: Regulation, activation, and genomic consequences.","authors":"Layla Diaz-Portal, Jesús Emiliano Sotelo-Fonseca, Bernardo Rodriguez-Martin","doi":"10.1016/bs.adgen.2025.11.004","DOIUrl":"10.1016/bs.adgen.2025.11.004","url":null,"abstract":"Transposable elements (TEs) are mobile DNA sequences that have played a central role in shaping the human genome. Among them, LINE-1 (L1) elements are particularly relevant in cancer, as most reported somatic activity originates from them. Under normal circumstances, L1 activity is tightly regulated at multiple stages of its life cycle; however, already early in cancer development, this control can be disrupted by global hypomethylation, TP53 inactivation, and chromatin deregulation, among other factors, allowing L1 elements to become transcriptionally active and mobile. Somatic L1 retrotransposition is particularly abundant in cancers of epithelial origin, most notably in esophageal, head and neck, colorectal, and lung squamous cell carcinomas. The resulting L1 insertions can disrupt genes, alter regulatory landscapes, and generate large chromosomal rearrangements, contributing to genomic instability. Most of these effects are driven by a small subset of highly active \"hot\" L1 elements segregating in the human population. Beyond their mutagenic potential, TE-derived transcripts and proteins can activate innate immune pathways, linking retrotransposon activity to cancer immunity. These tumor-type-specific patterns of L1 activity and their diverse genomic consequences are opening new avenues for leveraging TE activation as a biomarker, actionable therapeutic target, and modulator of the tumor immune microenvironment.","PeriodicalId":50949,"journal":{"name":"Advances in Genetics","volume":"116 ","pages":"125-187"},"PeriodicalIF":0.0,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148139675","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

The JAK-STAT signaling pathway in inflammatory and autoimmune diseases: Its potential role as a therapeutic target. 炎症和自身免疫性疾病中的JAK-STAT信号通路：其作为治疗靶点的潜在作用

4区生物学

Advances in Genetics Pub Date : 2026-01-01 Epub Date: 2025-12-01 DOI: 10.1016/bs.adgen.2025.11.008

Leire Bergara-Muguruza, Kaan Gundogdu, Izortze Santin

引用次数: 0

Long noncoding RNAs as key regulators of autoimmunity. 长链非编码rna作为自身免疫的关键调控因子。

4区生物学

Advances in Genetics Pub Date : 2026-01-01 Epub Date: 2025-12-27 DOI: 10.1016/bs.adgen.2025.11.005

Ruxiao Yang-Fischer, Alyssa Shearer, Sankar Ghosh

引用次数: 0

IFN response regulation upon viral infections. 干扰素对病毒感染的反应调节。

4区生物学

Advances in Genetics Pub Date : 2026-01-01 Epub Date: 2026-01-08 DOI: 10.1016/bs.adgen.2025.11.007

Carolina Chiale

{"title":"IFN response regulation upon viral infections.","authors":"Carolina Chiale","doi":"10.1016/bs.adgen.2025.11.007","DOIUrl":"10.1016/bs.adgen.2025.11.007","url":null,"abstract":"Interferons are key mediators of antiviral defense. They enable infected cells and specialized immune populations to mount rapid transcriptional responses that restrict viral replication and support immune activation. Type I and type III interferons share many antiviral properties, but their effects are determined by distinct receptor distributions, signaling dynamics, and tissue localization. While both families contribute to protection against infection, this chapter focuses primarily on the regulation and function of type I interferons. The induction of interferons depends on the activation of pattern recognition receptors that detect viral nucleic acids and trigger signaling cascades involving IRF and NF-κB transcription factors. These pathways control tightly regulated transcriptional and epigenetic programs that drive interferon gene expression and the induction of interferon-stimulated genes. Balanced regulation is essential, as excessive or persistent signaling can cause immunopathology and chronic inflammation. Genetic variation in interferon pathways influences susceptibility to viral infections, and defects in interferon regulation contribute to several monogenic interferonopathies. Plasmacytoid dendritic cells are a major source of type I interferons and illustrate the complexity of cellular specialization in antiviral defense. Understanding these mechanisms is essential for the development of therapies that enhance antiviral protection or limit pathogenic inflammation in chronic infections and autoimmune disease.","PeriodicalId":50949,"journal":{"name":"Advances in Genetics","volume":"115 ","pages":"189-228"},"PeriodicalIF":0.0,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146042016","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Retrotransposons as both "architects" and "saboteurs" in the nervous system. 反转录转座子在神经系统中既是“建筑师”又是“破坏者”。

4区生物学

Advances in Genetics Pub Date : 2026-01-01 Epub Date: 2025-12-02 DOI: 10.1016/bs.adgen.2025.11.002

Nuria Izquierdo-Useros, Mara Dierssen, Bonaventura Clotet, Aleix Elizalde-Torrent, Paulina Carriba

{"title":"Retrotransposons as both \"architects\" and \"saboteurs\" in the nervous system.","authors":"Nuria Izquierdo-Useros, Mara Dierssen, Bonaventura Clotet, Aleix Elizalde-Torrent, Paulina Carriba","doi":"10.1016/bs.adgen.2025.11.002","DOIUrl":"10.1016/bs.adgen.2025.11.002","url":null,"abstract":"Transposable elements (TEs), once dismissed as genomic \"junk,\" are now recognized as major forces shaping the architecture, function, and evolution of the nervous system. Among them, retrotransposons-particularly Long Interspersed Nuclear Elements (LINEs) play a dual role as both architects of neuronal diversity and saboteurs of genomic integrity. During neurodevelopment, transient retrotransposon activation contributes to somatic mosaicism, activity-dependent transcription, and synaptic plasticity, thereby enhancing cognitive adaptability. However, the same mechanisms that promote neuronal complexity render the brain vulnerable to aging and disease. Epigenetic erosion during senescence leads to derepression of LINEs and endogenous retroviruses, triggering genomic instability and neuroinflammation through the cGAS-STING pathway. Such \"retrotransposon storms\" are increasingly linked to neurodegenerative disorders, notably Alzheimer's disease, where tau- and Aβ-driven chromatin relaxation facilitates TE reactivation. The chapter integrates evidence from molecular, cellular, and translational research, highlighting therapeutic opportunities, from reverse transcriptase inhibitors like lamivudine to epigenetic and innate immune modulators, that aim to restore genomic homeostasis. Understanding retrotransposons as both evolutionary catalysts and pathological triggers reframes their role in brain biology and positions them as novel therapeutic targets in aging and neurodegeneration.","PeriodicalId":50949,"journal":{"name":"Advances in Genetics","volume":"116 ","pages":"101-123"},"PeriodicalIF":0.0,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148139637","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Transposable elements in aging: From biomarkers to effectors. 衰老中的转座因子：从生物标志物到效应器。

4区生物学

Advances in Genetics Pub Date : 2026-01-01 Epub Date: 2025-12-02 DOI: 10.1016/bs.adgen.2025.11.001

Alejandro Fuentes-Iglesias, Raquel García-Vílchez, Diana Guallar

{"title":"Transposable elements in aging: From biomarkers to effectors.","authors":"Alejandro Fuentes-Iglesias, Raquel García-Vílchez, Diana Guallar","doi":"10.1016/bs.adgen.2025.11.001","DOIUrl":"10.1016/bs.adgen.2025.11.001","url":null,"abstract":"This chapter reviews the current understanding of the role of transposable elements (TEs) in the aging process. TEs represent a significant proportion of mammalian genomes and, far from being \"junk DNA\", they harbor important functions as regulators of gene expression and important drivers of evolution. Their classification, epigenetic mechanisms that control their silencing, and the evidence for their progressive activation during physiological aging across multiple species are discussed.Aging is associated with a global loss of heterochromatin, which triggers TE derepression, and unleashes two major pathological consequences. First, the increased activity of these elements generates genomic instability through insertional mutagenesis, DNA damage, and changes in genome organization. Second, TE-derived nucleic acids are recognized by DNA sensors such as cGAS-STING and RNA sensors including RIG-I and MDA5, perpetuating interferon responses that contribute to the age-associated functional decline. Diverse therapeutic strategies to control TE dysregulation are presented, including reverse transcriptase inhibitors (NRTIs), lifestyle interventions, genetic approaches, and SIRT6 activation. These interventions have demonstrated efficacy in extending lifespan, suppressing TE expression, reversing inflammatory phenotypes, ameliorating age-related decline, and restoring TE epigenetic silencing in experimental models. Finally, the significance of TE-based biomarkers is highlighted, emphasizing their vital role as both effectors and indicators of biological age and their utility in assessing disease risk. Together, these findings position TE dysregulation as a fundamental aging mechanism and a promising therapeutic target for promoting healthy aging.","PeriodicalId":50949,"journal":{"name":"Advances in Genetics","volume":"116 ","pages":"189-244"},"PeriodicalIF":0.0,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148139689","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Chemokines and their receptors: The importance of their expression for an appropriate regulation of the immune response in health and disease. 趋化因子及其受体：其表达对健康和疾病中免疫反应的适当调节的重要性。

4区生物学

Advances in Genetics Pub Date : 2026-01-01 Epub Date: 2025-12-01 DOI: 10.1016/bs.adgen.2025.11.010

Maialen Sebastian-delaCruz

{"title":"Chemokines and their receptors: The importance of their expression for an appropriate regulation of the immune response in health and disease.","authors":"Maialen Sebastian-delaCruz","doi":"10.1016/bs.adgen.2025.11.010","DOIUrl":"10.1016/bs.adgen.2025.11.010","url":null,"abstract":"Leukocytes are typically migratory immune cells, and their migration is of critical immunological importance. In this context, chemokines and their receptors play a dynamic role in regulating the functions of leukocytes within the immune system, since they drive leukocytes into and out of blood and lymphatic vessels and direct their interstitial movement and positioning. Chemokines constitute a large family of cytokines that primarily regulate immune cell migration through the binding to chemokine receptors expressed on the surface of leukocytes. They are expressed by both immune and non-immune cells, and their activity is tightly regulated at several levels from transcription to secretion and distribution. Conventional chemokine receptors are G protein-coupled receptors (GPCR) found mainly in immune cells that can modulate the immune response activation by the initiation of a signaling cascade. On the contrary, atypical chemokine receptors act as decoy receptors and regulate chemokine levels in the blood. Together, chemokines and their receptors form the chemokine system, a complex network with high redundance and promiscuity. Dysregulation of this system can contribute to various disorders that have an immune or inflammatory component mediated by chemokine-directed leukocyte migration, such as chronic inflammatory and neurodegenerative disorders. Thus, in this chapter I focused on the role of chemokines and their receptors under physiological conditions and on their implication in disorders like multiple sclerosis, Parkinson's Disease and Alzheimer's Disease, in which neuroinflammation caused by the infiltration of these immune cells into the CNS and their activation plays a key role in the development of the pathologies.","PeriodicalId":50949,"journal":{"name":"Advances in Genetics","volume":"115 ","pages":"279-363"},"PeriodicalIF":0.0,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146042033","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

The genetic regulation of immune cells upon activation. 免疫细胞激活后的遗传调控。

4区生物学

Advances in Genetics Pub Date : 2026-01-01 Epub Date: 2025-12-29 DOI: 10.1016/bs.adgen.2025.11.009

Rodrigo Sánchez-Tarjuelo

{"title":"The genetic regulation of immune cells upon activation.","authors":"Rodrigo Sánchez-Tarjuelo","doi":"10.1016/bs.adgen.2025.11.009","DOIUrl":"10.1016/bs.adgen.2025.11.009","url":null,"abstract":"Recent discoveries in the field of epigenetic regulation have shed light on the intricate processes of immune cell activation, differentiation, and function in response to threats. Epigenetics connects genetic and environmental factors and includes DNA methylation, histone post-translational modifications and the regulation of chromatin accessibility by non-coding RNAs controlling constitutive or inducible gene transcription. These mechanisms coordinate the activation or suppression of immune cells via specific transcriptional programmes. In particular, epigenetic marks at the sites of lineage-specific transcription factors, as well as the maintenance of cell-type-specific epigenetic modifications, dictate cell differentiation, cytokine production and functional ability following repeated exposure to antigens in memory T cells. Furthermore, the epigenetic and metabolic reprogramming that occurs during a primary innate immune response, results in enhanced responses to secondary challenges. A complete understanding of the epigenetic basis of immune cell differentiation and cellular stability will clarify pathological dysregulation and help delineate new therapeutic strategies for targeting immune disorders.","PeriodicalId":50949,"journal":{"name":"Advances in Genetics","volume":"115 ","pages":"1-52"},"PeriodicalIF":0.0,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146042085","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0