4.6 Article

Extensive Alternative Splicing Patterns in Systemic Lupus Erythematosus Highlight Sexual Differences

相关参考文献

注意:仅列出部分参考文献,下载原文获取全部文献信息。
Review Cell Biology

The physiology of alternative splicing

Luciano E. Marasco et al.

Summary: Alternative splicing is a significant contributor to the complexity of multicellular eukaryotic transcriptomes, shaping the physiology and pathology of organisms at the protein level. It regulates diverse processes such as cell differentiation, thermal regulation, neuron self-avoidance, infrared sensing, Warburg effect, telomere length maintenance, cancer, and autism spectrum disorders. Additionally, understanding the control of alternative splicing has paved the way for clinical therapies of hereditary diseases.

NATURE REVIEWS MOLECULAR CELL BIOLOGY (2023)

Article Multidisciplinary Sciences

Abnormalities in intron retention characterize patients with systemic lupus erythematosus

Xiaoqian Sun et al.

Summary: The study investigated intron retention (IR) in lymphocytes from patients with systemic lupus erythematosus (SLE). The results showed that decreased IR is characteristic of active SLE and may contribute to abnormal gene expression in this autoimmune disease.

SCIENTIFIC REPORTS (2023)

Review Immunology

The regulatory role of alternative splicing in inflammatory bowel disease

Jianli Zhou et al.

Summary: Inflammatory bowel disease (IBD) is a group of chronic diseases including Crohn's disease and ulcerative colitis, which have a global impact on both children and adults. The burden of IBD is increasing worldwide, and the costs associated with it are high. The pathogenesis of IBD is still unclear, but is believed to be related to environmental factors, gut microbiota, immune imbalance, and genetic susceptibility. This article reviews the research progress on alternative splicing events, splicing factors, and splicing mutations associated with IBD.

FRONTIERS IN IMMUNOLOGY (2023)

Review Genetics & Heredity

RUN(X) out of blood: emerging RUNX1 functions beyond hematopoiesis and links to Down syndrome

Esteban J. Rozen et al.

Summary: RUNX1 is a transcription factor that regulates the specification of the hematopoietic lineage and is involved in hematological malignancies. This review summarizes the functions of RUNX1 in various tissues outside the hematopoietic context and suggests a potential relation to specific conditions associated with Trisomy 21.

HUMAN GENOMICS (2023)

Review Oncology

RNA splicing dysregulation and the hallmarks of cancer

Robert K. Bradley et al.

Summary: Dysregulated RNA splicing is a common feature in various tumors, resulting from mutations and altered expression of factors involved in splicing regulation. Dysregulated splicing promotes tumorigenesis through multiple mechanisms, such as enhancing cell proliferation, suppressing apoptosis, promoting migration and metastasis, and conferring resistance to chemotherapy and immune surveillance. Targeting splicing for cancer therapy shows promising potential, with specific cancer-associated isoforms identified and small molecules developed to modulate or inhibit RNA splicing.

NATURE REVIEWS CANCER (2023)

Review Endocrinology & Metabolism

Regulation of Alternative Splicing by Steroid Hormones

Florian Le Billan et al.

Summary: Steroid hormones not only regulate gene transcription but also modulate the alternative splicing of pre-mRNA, acting through binding to nuclear receptors. The effect of steroid hormones on alternative splicing is time-, gene-, and tissue-specific. Mechanisms by which steroid hormones regulate alternative splicing include the recruitment of dual-function proteins, transcriptional regulation of splicing factor levels, alternative splicing of splicing factors or transcription factors, and regulation of elongation rate.

ENDOCRINOLOGY (2023)

Article Biochemistry & Molecular Biology

The SWI/SNF subunit BRG1 affects alternative splicing by changing RNA binding factor interactions with nascent RNA

Antoni Ganez-Zapater et al.

Summary: BRG1 and BRM are ATPase core subunits of the human SWI/SNF chromatin remodeling complexes associated with transcriptional initiation. They are also involved in alternative splicing by interacting with splicing-RNA binding factors and influencing their binding to nascent pre-mRNA particles.

MOLECULAR GENETICS AND GENOMICS (2022)

Editorial Material Genetics & Heredity

Intron retention: importance, challenges, and opportunities

Justin J. -L. Wong et al.

Summary: Recent research has highlighted the physiological significance of intron retention (IR) in various domains of life and has uncovered unexpected functions in a wide range of biological processes. Despite significant progress in the field, there are still some challenges to be addressed, which, once overcome, will enable the discovery of more functions of IR.

TRENDS IN GENETICS (2022)

Article Biochemistry & Molecular Biology

The X-linked splicing regulator MBNL3 has been co-opted to restrict placental growth in eutherians

Thomas Spruce et al.

Summary: Understanding the regulatory interactions that control gene expression during the development of novel tissues is a key goal of evolutionary developmental biology. Here, we show that Mbnl3 has evolved a novel placental function in eutherian mammals as a result of evolutionary specialization. Mbnl3 loss leads to increased placental growth and fetal resource allocation under limiting conditions.

PLOS BIOLOGY (2022)

Review Oncology

Alternative Splicing in Cancer and Immune Cells

Antoine Bernard et al.

Summary: This article presents the role and mechanism of alternative splicing in cancer cells and immune cells. Alternative splicing is an important mechanism that can generate multiple proteins from a single gene. In normal cells, alternative splicing is involved in the regulation of cellular behavior. However, in cancer, alternative splicing is dysregulated and contributes to the characteristics of tumor cells.

CANCERS (2022)

Article Medicine, Research & Experimental

An alternatively spliced STING isoform localizes in the cytoplasmic membrane and directly senses extracellular cGAMP

Xiaobo Li et al.

Summary: The study reveals the signaling mechanism of STING base cGAMP in activating anti-tumor immune response. It identifies an alternatively spliced STING isoform, pmSTING, which can sense extracellular cGAMP on the plasma membrane and promote interferon production through interaction with TBK1 and IRF3.

JOURNAL OF CLINICAL INVESTIGATION (2022)

Review Rheumatology

Update on the diagnosis and management of systemic lupus erythematosus

Antonis Fanouriakis et al.

Summary: Systemic lupus erythematosus (SLE) is characterized by clinical heterogeneity, unpredictable course and flares. Diagnosis remains clinical with limited serologic test confirmation, and newer classification criteria offer more accurate classification. Treatment goals focus on patient survival, flare prevention, organ damage prevention, and quality of life optimization. High-intensity immunosuppressive therapy followed by less intensive therapy is typically used to control disease activity in severe cases of SLE.

ANNALS OF THE RHEUMATIC DISEASES (2021)

Article Genetics & Heredity

Minor intron retention drives clonal hematopoietic disorders and diverse cancer predisposition

Daichi Inoue et al.

Summary: Loss of function of the minor spliceosome component ZRSR2 enhances hematopoietic stem cell self-renewal through minor intron retention of its target LZTR1, a regulator of RAS-related GTPases. Retention of LZTR1 minor introns was also identified in Noonan syndrome and different solid tumors, suggesting a potential link between minor intron recognition and regulation of hematopoiesis and cancers. Recurrent mutations in ZRSR2, minor introns, and LZTR1 suggest potential connections among ZRSR2 mutations, LZTR1 regulation, and leukemia development.

NATURE GENETICS (2021)

Article Immunology

USP19 Suppresses Th17-Driven Pathogenesis in Autoimmunity

Jing Zhang et al.

Summary: Th17 cells play an important role in autoimmune pathology and exhibit plasticity in their pathogenic potential. Research has identified that ROR gamma t and the ubiquitination pathway play key roles in the pathogenesis of Th17 cells. USP19 suppresses the pathogenicity of Th17 cells by regulating the ubiquitin chain of ROR gamma t.

JOURNAL OF IMMUNOLOGY (2021)

Article Multidisciplinary Sciences

The dynamic epigenetic regulation of the inactive X chromosome in healthy human B cells is dysregulated in lupus patients

Sarah Pyfrom et al.

Summary: SLE, a female-predominant autoimmune disease, is associated with X-linked gene inactivation and abnormal X chromosome inactivation in B cells. Researchers found that aberrant maintenance of X chromosome inactivation in B cells is a feature of SLE, leading to abnormal X-linked gene expression.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2021)

Article Genetics & Heredity

Extensive Changes in Transcription Dynamics Reflected on Alternative Splicing Events in Systemic Lupus Erythematosus Patients

Sofia Papanikolaou et al.

Summary: Alternative RNA splicing can lead to reduced mRNA translation or production of non-functional proteins, playing a vital role in gene regulation. In patients with Systemic Lupus Erythematosus, extensive changes in transcription dynamics were identified, predominantly involving intron retention events. Functional analysis of alternatively spliced genes revealed associations with metabolism and histone acetylation.
Review Immunology

Alternative Splicing: A New Cause and Potential Therapeutic Target in Autoimmune Disease

Pingping Ren et al.

Summary: Alternative splicing is a complex regulatory mechanism that affects a large percentage of genes and organs, aberrant splicing can lead to various diseases, though its association with autoimmune diseases requires further examination.

FRONTIERS IN IMMUNOLOGY (2021)

Article Multidisciplinary Sciences

The impact of sex on gene expression across human tissues

Meritxell Oliva et al.

SCIENCE (2020)

Article Multidisciplinary Sciences

Metascape provides a biologist-oriented resource for the analysis of systems-level datasets

Yingyao Zhou et al.

NATURE COMMUNICATIONS (2019)

Article Medicine, Research & Experimental

The X-linked histone demethylase Kdm6a in CD4+ T lymphocytes modulates autoimmunity

Yuichiro Itoh et al.

JOURNAL OF CLINICAL INVESTIGATION (2019)

Review Rheumatology

Sexual dimorphism in SLE: above and beyond sex hormones

E. A. A. Christou et al.

Article Biotechnology & Applied Microbiology

Intron retention is a source o neoepitopes in cancer

Alicia C. Smart et al.

NATURE BIOTECHNOLOGY (2018)

Article Biochemistry & Molecular Biology

Impact of Genetic Polymorphisms on Human Immune Cell Gene Expression

Benjamin J. Schmiedel et al.

Article Biochemistry & Molecular Biology

Multilayered Control of Alternative Splicing Regulatory Networks by Transcription Factors

Hong Han et al.

MOLECULAR CELL (2017)

Review Immunology

Gender balance in patients with systemic lupus erythematosus

Audrey A. Margery-Muir et al.

AUTOIMMUNITY REVIEWS (2017)

Article Biochemistry & Molecular Biology

Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing

Xinping Yang et al.

Article Biochemistry & Molecular Biology

USP19 modulates autophagy and antiviral immune responses by deubiquitinating Beclin-1

Shouheng Jin et al.

EMBO JOURNAL (2016)

Article Biochemistry & Molecular Biology

Global intron retention mediated gene regulation during CD4+ T cell activation

Ting Ni et al.

NUCLEIC ACIDS RESEARCH (2016)

Article Multidisciplinary Sciences

SURVIV for survival analysis of mRNA isoform variation

Shihao Shen et al.

NATURE COMMUNICATIONS (2016)

Article Multidisciplinary Sciences

PARP9 and PARP14 cross-regulate macrophage activation via STAT1 ADP-ribosylation

Hiroshi Iwata et al.

NATURE COMMUNICATIONS (2016)

Article Genetics & Heredity

The prognostic potential of alternative transcript isoforms across human tumors

Juan L. Trincado et al.

GENOME MEDICINE (2016)

Review Biochemistry & Molecular Biology

Regulation of Alternative Splicing Through Coupling with Transcription and Chromatin Structure

Shiran Naftelberg et al.

ANNUAL REVIEW OF BIOCHEMISTRY, VOL 84 (2015)

Review Biochemistry & Molecular Biology

Chromatin, DNA structure and alternative splicing

Nicolas Nieto Moreno et al.

FEBS LETTERS (2015)

Article Biotechnology & Applied Microbiology

Sex differences in the human peripheral blood transcriptome

Rick Jansen et al.

BMC GENOMICS (2014)

Article Biochemistry & Molecular Biology

A Highly Conserved Program of Neuronal Microexons Is Misregulated in Autistic Brains

Manuel Irimia et al.

Article Biotechnology & Applied Microbiology

Moderated estimation of fold change and dispersion for RNA-seq data with DESeq2

Michael I. Love et al.

GENOME BIOLOGY (2014)

Article Medicine, General & Internal

Autoimmune Rheumatic Diseases 3 Immunopathogenic mechanisms of systemic autoimmune disease

Marie Wahren-Herlenius et al.

LANCET (2013)

Article Multidisciplinary Sciences

Widespread sex differences in gene expression and splicing in the adult human brain

Daniah Trabzuni et al.

NATURE COMMUNICATIONS (2013)

Article Biochemistry & Molecular Biology

Sex-biased genetic effects on gene regulation in humans

Antigone S. Dimas et al.

GENOME RESEARCH (2012)

Article Biotechnology & Applied Microbiology

clusterProfiler: an R Package for Comparing Biological Themes Among Gene Clusters

Guangchuang Yu et al.

OMICS-A JOURNAL OF INTEGRATIVE BIOLOGY (2012)

Article Multidisciplinary Sciences

CD28 Costimulation Regulates Genome-Wide Effects on Alternative Splicing

Manish J. Butte et al.

PLOS ONE (2012)

Article Multidisciplinary Sciences

Spatio-temporal transcriptome of the human brain

Hyo Jung Kang et al.

NATURE (2011)

Review Immunology

Interleukin and Interleukin Receptor Diversity: Role of Alternative Splicing

Anupama Sahoo et al.

INTERNATIONAL REVIEWS OF IMMUNOLOGY (2010)

Review Biochemistry & Molecular Biology

Alternative splicing in multiple sclerosis and other autoimmune diseases

Irina Evsyukova et al.

RNA BIOLOGY (2010)

Article Gastroenterology & Hepatology

Expression of a splice variant of CXCR3 in Crohn's disease patients; indication for a lymphocyte-epithelial cell interaction

Pinelopi Manousou et al.

JOURNAL OF GASTROENTEROLOGY AND HEPATOLOGY (2008)

Article Biochemistry & Molecular Biology

The human SWI/SNF subunit Brm is a regulator of alternative splicing

E Batsche et al.

NATURE STRUCTURAL & MOLECULAR BIOLOGY (2006)

Review Immunology

Consequences of regulated pre-mRNA splicing in the immune system

KW Lynch

NATURE REVIEWS IMMUNOLOGY (2004)

Article Multidisciplinary Sciences

Individuality and variation in gene expression patterns in human blood

AR Whitney et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2003)