Abo Bibliothek: Guest
Critical Reviews™ in Eukaryotic Gene Expression

Erscheint 6 Ausgaben pro Jahr

ISSN Druckformat: 1045-4403

ISSN Online: 2162-6502

The Impact Factor measures the average number of citations received in a particular year by papers published in the journal during the two preceding years. 2017 Journal Citation Reports (Clarivate Analytics, 2018) IF: 1.6 To calculate the five year Impact Factor, citations are counted in 2017 to the previous five years and divided by the source items published in the previous five years. 2017 Journal Citation Reports (Clarivate Analytics, 2018) 5-Year IF: 2.2 The Immediacy Index is the average number of times an article is cited in the year it is published. The journal Immediacy Index indicates how quickly articles in a journal are cited. Immediacy Index: 0.3 The Eigenfactor score, developed by Jevin West and Carl Bergstrom at the University of Washington, is a rating of the total importance of a scientific journal. Journals are rated according to the number of incoming citations, with citations from highly ranked journals weighted to make a larger contribution to the eigenfactor than those from poorly ranked journals. Eigenfactor: 0.00058 The Journal Citation Indicator (JCI) is a single measurement of the field-normalized citation impact of journals in the Web of Science Core Collection across disciplines. The key words here are that the metric is normalized and cross-disciplinary. JCI: 0.33 SJR: 0.345 SNIP: 0.46 CiteScore™:: 2.5 H-Index: 67

Indexed in

The Regulation and Regulatory Activities of Alternative Splicing of the SMN Gene

Volumen 14, Ausgabe 4, 2004, 16 pages
DOI: 10.1615/CritRevEukaryotGeneExpr.v14.i4.30
Get accessGet access

ABSTRAKT

Alternative splicing is an essential process that produces protein diversity in humans. It is also the cause of many complex diseases. Spinal muscular atrophy (SMA), the second most common autosomal recessive disorder, is caused by the absence of or mutations in the Survival Motor Neuron 1 (SMN1) gene, which encodes an essential protein. A nearly identical copy of the gene, SMN2, fails to compensate for the loss of SMN1 because exon 7 is alternatively spliced, producing a truncated protein, which is unstable. SMN1 and SMN2 differ by a critical C-to-T substitution at position 6 of exon 7 in SMN2 (C6U transition in mRNA). This substitution alone is enough to cause an exon 7 exclusion in SMN2. Various cis- and trans-acting factors have been shown to neutralize the inhibitory effects of C6U transition. Published reports propose models in which either abrogation of an enhancer element associated with SF2/ASF or gain of a silencer element associated with hnRNP A1 is the major cause of exon 7 exclusion in SMN2. Most recent model suggests the presence of an EXtended INhibitory ContexT (Exinct) that is formed as a consequence of C6U transition in exon 7 of SMN2. In Exinct model, several factors may affect exon 7 splicing through cooperative interactions. Such regulation may be common to many alternatively spliced exons in humans. Recent advances in our understanding of SMN gene splicing reveals multiple challenges that are specific to in vivo regulation, which we now know is intimately connected with other biological pathways.

REFERENZIERT VON
  1. Li Jing, Chen Xian-hua, Xiao Ping-jie, Li Li, Lin Wan-min, Huang Jia, Xu Ping, Expression Pattern and Splicing Function of Mouse ZNF265, Neurochemical Research, 33, 3, 2008. Crossref

  2. Meyer Kathrin, Marquis Julien, Trüb Judith, Nlend Nlend Rachel, Verp Sonia, Ruepp Marc-David, Imboden Hans, Barde Isabelle, Trono Didier, Schümperli Daniel, Rescue of a severe mouse model for spinal muscular atrophy by U7 snRNA-mediated splicing modulation, Human Molecular Genetics, 18, 3, 2009. Crossref

  3. Baughan T. D., Dickson A., Osman E. Y., Lorson C. L., Delivery of bifunctional RNAs that target an intronic repressor and increase SMN levels in an animal model of spinal muscular atrophy, Human Molecular Genetics, 18, 9, 2009. Crossref

  4. Dickson Alexa, Osman Erkan, Lorson Christian L., A Negatively Acting Bifunctional RNA Increases Survival Motor Neuron Both In Vitro and In Vivo, Human Gene Therapy, 19, 11, 2008. Crossref

  5. Hsu Shih-Hsien, Lai Ming-Chi, Er Tze-Kiong, Yang San-Nan, Hung Chih-Hsing, Tsai Hsin-Hung, Lin Yu-Chieh, Chang Jan-Gowth, Lo Yi-Ching, Jong Yuh-Jyh, Ubiquitin carboxyl-terminal hydrolase L1 (UCHL1) regulates the level of SMN expression through ubiquitination in primary spinal muscular atrophy fibroblasts, Clinica Chimica Acta, 411, 23-24, 2010. Crossref

  6. Zhou Jianhua, Zheng Xuexiu, Shen Haihong, Targeting RNA-splicing for SMA treatment, Molecules and Cells, 33, 3, 2012. Crossref

  7. Porensky Paul N., Burghes Arthur H.M., Antisense Oligonucleotides for the Treatment of Spinal Muscular Atrophy, Human Gene Therapy, 24, 5, 2013. Crossref

  8. Wang Li-Ting, Chiou Shyh-Shin, Liao Yu-Mei, Jong Yuh-Jyh, Hsu Shih-Hsien, Survival of motor neuron protein downregulates miR-9 expression in patients with spinal muscular atrophy, The Kaohsiung Journal of Medical Sciences, 30, 5, 2014. Crossref

  9. Baughan Travis, Shababi Monir, Coady Tristan H., Dickson Alexa M., Tullis Gregory E., Lorson Christian L., Stimulating Full-Length SMN2 Expression by Delivering Bifunctional RNAs via a Viral Vector, Molecular Therapy, 14, 1, 2006. Crossref

  10. Rogalska Malgorzata Ewa, Tajnik Mojca, Licastro Danilo, Bussani Erica, Camparini Luca, Mattioli Chiara, Pagani Franco, Therapeutic activity of modified U1 core spliceosomal particles, Nature Communications, 7, 1, 2016. Crossref

  11. Singh N.N., Howell M.D., Singh R.N., Transcriptional and Splicing Regulation of Spinal Muscular Atrophy Genes, in Spinal Muscular Atrophy, 2017. Crossref

  12. Novoyatleva Tatyana, Heinrich Bettina, Tang Yesheng, Benderska Natalya, Butchbach Matthew E.R., Lorson Christian L., Lorson Monique A., Ben-Dov Claudia, Fehlbaum Pascale, Bracco Laurent, Burghes Arthur H.M., Bollen Mathieu, Stamm Stefan, Protein phosphatase 1 binds to the RNA recognition motif of several splicing factors and regulates alternative pre-mRNA processing, Human Molecular Genetics, 17, 1, 2008. Crossref

  13. Singh Ravindra N., Howell Matthew D., Ottesen Eric W., Singh Natalia N., Diverse role of survival motor neuron protein, Biochimica et Biophysica Acta (BBA) - Gene Regulatory Mechanisms, 1860, 3, 2017. Crossref

  14. Singh Natalia N., Del Rio-Malewski José Bruno, Luo Diou, Ottesen Eric W., Howell Matthew D., Singh Ravindra N., Activation of a cryptic 5′ splice site reverses the impact of pathogenic splice site mutations in the spinal muscular atrophy gene, Nucleic Acids Research, 45, 21, 2017. Crossref

  15. Ottesen Eric W., Seo Joonbae, Singh Natalia N., Singh Ravindra N., A Multilayered Control of the Human Survival Motor Neuron Gene Expression by Alu Elements, Frontiers in Microbiology, 8, 2017. Crossref

  16. Ottesen Eric W., ISS-N1 makes the first FDA-approved drug for spinal muscular atrophy, Translational Neuroscience, 8, 1, 2017. Crossref

  17. Soreq Lilach, Gilboa-Geffen Adi, Berrih-Aknin Sonia, Lacoste Paul, Darvasi Ariel, Soreq Eyal, Bergman Hagai, Soreq Hermona, Maas Stefan, Identifying Alternative Hyper-Splicing Signatures in MG-Thymoma by Exon Arrays, PLoS ONE, 3, 6, 2008. Crossref

  18. Ottesen Eric W, Singh Natalia N, Luo Diou, Singh Ravindra N, High-affinity RNA targets of the Survival Motor Neuron protein reveal diverse preferences for sequence and structural motifs, Nucleic Acids Research, 2018. Crossref

  19. Singh Natalia N., Luo Diou, Singh Ravindra N., Pre-mRNA Splicing Modulation by Antisense Oligonucleotides, in Exon Skipping and Inclusion Therapies, 1828, 2018. Crossref

  20. Singh Ravindra N., Singh Natalia N., Mechanism of Splicing Regulation of Spinal Muscular Atrophy Genes, in RNA Metabolism in Neurodegenerative Diseases, 20, 2018. Crossref

  21. Singh Natalia N., Singh Ravindra N., How RNA structure dictates the usage of a critical exon of spinal muscular atrophy gene, Biochimica et Biophysica Acta (BBA) - Gene Regulatory Mechanisms, 1862, 11-12, 2019. Crossref

  22. Ottesen Eric W, Luo Diou, Seo Joonbae, Singh Natalia N, Singh Ravindra N, HumanSurvival Motor Neurongenes generate a vast repertoire of circular RNAs, Nucleic Acids Research, 47, 6, 2019. Crossref

  23. Novoyatleva Tatyana, Tang Yesheng, Rafalska Ilona, Stamm Stefan, Pre-mRNA Missplicing as a Cause of Human Disease, in Alternative Splicing and Disease, 44, 2006. Crossref

  24. Garcia-Blanco Mariano A., Alternative Splicing: Therapeutic Target and Tool, in Alternative Splicing and Disease, 44, 2006. Crossref

  25. Singh Ravindra N., Seo Joonbae, Singh Natalia N., RNA in spinal muscular atrophy: therapeutic implications of targeting, Expert Opinion on Therapeutic Targets, 24, 8, 2020. Crossref

  26. Singh Natalia N., Ottesen Eric W., Singh Ravindra N., A survey of transcripts generated by spinal muscular atrophy genes, Biochimica et Biophysica Acta (BBA) - Gene Regulatory Mechanisms, 1863, 8, 2020. Crossref

  27. Singh Ravindra N, Ottesen Eric W, Singh Natalia N, The First Orally Deliverable Small Molecule for the Treatment of Spinal Muscular Atrophy, Neuroscience Insights, 15, 2020. Crossref

  28. Singh Natalia N, Lee Brian M, DiDonato Christine J, Singh Ravindra N, Mechanistic principles of antisense targets for the treatment of spinal muscular atrophy, Future Medicinal Chemistry, 7, 13, 2015. Crossref

  29. Singh Natalia N., Hollinger Katrin, Bhattacharya Dhruva, Singh Ravindra N., An antisense microwalk reveals critical role of an intronic position linked to a unique long-distance interaction in pre-mRNA splicing, RNA, 16, 6, 2010. Crossref

  30. Cherry Jonathan J, Androphy Elliot J, Therapeutic strategies for the treatment of spinal muscular atrophy, Future Medicinal Chemistry, 4, 13, 2012. Crossref

  31. Singh Nirmal K., Singh Natalia N., Androphy Elliot J., Singh Ravindra N., Splicing of a Critical Exon of Human Survival Motor Neuron Is Regulated by a Unique Silencer Element Located in the Last Intron , Molecular and Cellular Biology, 26, 4, 2006. Crossref

  32. Bose Jayarama Krishnan, Wang I.-Fan, Hung Li, Tarn Woan-Yuh, Shen C.-K. James, TDP-43 Overexpression Enhances Exon 7 Inclusion during the Survival of Motor Neuron Pre-mRNA Splicing, Journal of Biological Chemistry, 283, 43, 2008. Crossref

  33. Mueller William F., Larsen Liza S.Z., Garibaldi Angela, Hatfield G. Wesley, Hertel Klemens J., The Silent Sway of Splicing by Synonymous Substitutions, Journal of Biological Chemistry, 290, 46, 2015. Crossref

  34. Donev R, Newall A, Thome J, Sheer D, A role for SC35 and hnRNPA1 in the determination of amyloid precursor protein isoforms, Molecular Psychiatry, 12, 7, 2007. Crossref

  35. Singh Natalia N., Hoffman Shaine, Reddi Prabhakara P., Singh Ravindra N., Spinal muscular atrophy: Broad disease spectrum and sex-specific phenotypes, Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, 1867, 4, 2021. Crossref

  36. Zhang Zhaiyi, Kelemen Olga, van Santen Maria A., Yelton Sharon M., Wendlandt Alison E., Sviripa Vitaliy M., Bollen Mathieu, Beullens Monique, Urlaub Henning, Lührmann Reinhard, Watt David S., Stamm Stefan, Synthesis and Characterization of Pseudocantharidins, Novel Phosphatase Modulators That Promote the Inclusion of Exon 7 into the SMN (Survival of Motoneuron) pre-mRNA, Journal of Biological Chemistry, 286, 12, 2011. Crossref

  37. Jamros Michael A., Aubol Brandon E., Keshwani Malik M., Zhang Zhaiyi, Stamm Stefan, Adams Joseph A., Intra-domain Cross-talk Regulates Serine-arginine Protein Kinase 1-dependent Phosphorylation and Splicing Function of Transformer 2β1, Journal of Biological Chemistry, 290, 28, 2015. Crossref

  38. Singh N N, Howell M D, Androphy E J, Singh R N, How the discovery of ISS-N1 led to the first medical therapy for spinal muscular atrophy, Gene Therapy, 24, 9, 2017. Crossref

  39. Naryshkin Nikolai A., Weetall Marla, Dakka Amal, Narasimhan Jana, Zhao Xin, Feng Zhihua, Ling Karen K. Y., Karp Gary M., Qi Hongyan, Woll Matthew G., Chen Guangming, Zhang Nanjing, Gabbeta Vijayalakshmi, Vazirani Priya, Bhattacharyya Anuradha, Furia Bansri, Risher Nicole, Sheedy Josephine, Kong Ronald, Ma Jiyuan, Turpoff Anthony, Lee Chang-Sun, Zhang Xiaoyan, Moon Young-Choon, Trifillis Panayiota, Welch Ellen M., Colacino Joseph M., Babiak John, Almstead Neil G., Peltz Stuart W., Eng Loren A., Chen Karen S., Mull Jesse L., Lynes Maureen S., Rubin Lee L., Fontoura Paulo, Santarelli Luca, Haehnke Daniel, McCarthy Kathleen D., Schmucki Roland, Ebeling Martin, Sivaramakrishnan Manaswini, Ko Chien-Ping, Paushkin Sergey V., Ratni Hasane, Gerlach Irene, Ghosh Anirvan, Metzger Friedrich, SMN2 splicing modifiers improve motor function and longevity in mice with spinal muscular atrophy , Science, 345, 6197, 2014. Crossref

  40. Singh Natalia N., O'Leary Collin A., Eich Taylor, Moss Walter N., Singh Ravindra N., Structural Context of a Critical Exon of Spinal Muscular Atrophy Gene, Frontiers in Molecular Biosciences, 9, 2022. Crossref

  41. Tazi Jamal, Bakkour Nadia, Stamm Stefan, Alternative splicing and disease, Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, 1792, 1, 2009. Crossref

Zukünftige Artikel

PRMT6 promotes the immune evasion of gastric cancer via upregulating ANXA1 Liang Xu, Fenger Zhang, Binqi Yu, Shengnan Jia, Sunfu Fan PURPL promotes M2 macrophage polarization in lung cancer via regulating RBM4/xCT signaling Jipeng Guo, Chongwen Gong, Hao Wang SIAH1 promotes the pyroptosis of cardiomyocytes in diabetic cardiomyopathy via regulating IκB-α/NF-κB signaling Jinbin Wu, Yaoming Yan SLC7A2-mediated lysine catabolism inhibits immunosuppression in triple negative breast cancer Yuanyuan Sun, Yaqing Li, Chengying Jiang, Chenying Liu, Yuanming Song SIAH2-mediated degradation of ACSL4 inhibits the anti-tumor activity of CD8+ T cells in hepatocellular carcinoma Fangzheng Shu, Yuhua Shi, Xiangxiang Shan, Wenzhang Zha, Rengen Fan, Wanjiang Xue RBM15-mediated N6-methyl adenosine (m6A) modification of EZH2 drives the epithelial-mesenchymal transition of cervical cancer Ruixue Wang, Wenhua Tan Evidence-Based Storytelling and A Strategic Roadmap to Promote Cancer Prevention Via Adolescent HPV Vaccination in Northern New England Matthew Dugan, Gary Stein, Jan Carney, Sheila Clifford-Bova KDM4A-AS1 promotes cell proliferation, migration and invasion via the miR-4306/STX6 axis in hepatocellular carcinoma Wei Cao, Yuhan Ren, Ying Liu, Guoshu Cao, Zhen Chen, Fan Wang HDAC1-mediated downregulation of NEU1 exacerbates the aggressiveness of cervical cancer Nanzi Xie, Sisi Mei, Changlan Dai, Wei Chen Effect of miR-26b-5p on progression of acute myeloid leukemia by regulating USP48-mediated Wnt/β-catenin pathway Yu Xie, Lin Tan, Kun Wu, Deyun Li, Chengping Li
Digitales Portal Digitale Bibliothek eBooks Zeitschriften Referenzen und Berichte Forschungssammlungen Preise und Aborichtlinien Begell House Kontakt Language English 中文 Русский Português German French Spain