Splice Site Mutation

by:Tumtec      2020-08-28

Irimia M, Rukov JL, Penny D, Roy SW. Functional and evolutionary analysis of alternatively spliced genes is according to an early eukaryotic origin of alternative splicing. Hashimoto K, Ishida E, Matsumoto S, Shibusawa N, Okada S, Monden T, Satoh T, Yamada M, Mori M. A liver × receptor -beta various splicing variant acts as an RNA co-activator of LXR-beta. Goncalves V, Matos P, Jordan P. Antagonistic SR proteins regulate different splicing of tumor-related Rac1b downstream of the PI3-kinase and Wnt pathways.


Eshel D, Toporik A, Efrati T, Nakav S, Chen A, Douvdevani A. Characterization of pure human antagonistic soluble CD40 isoforms produced by way of different splicing. Dudziak D, Nimmerjahn F, Bornkamm GW, Laux G. Alternative splicing generates putative soluble CD83 proteins that inhibit T cell proliferation. Clower CV, Chatterjee D, Wang Z, Cantley LC, Vander Heiden MG, Krainer AR. The alternative splicing repressors hnRNP A1/A2 and PTB influence pyruvate kinase isoform expression and cell metabolism. Chawla G, Lin CH, Han A, Shiue L, Ares M, Jr, Black DL. Sam68 regulates a set of alternatively spliced exons throughout neurogenesis. Castro MA, Oliveira MI, Nunes RJ, Fabre S, Barbosa R, Peixoto A, Brown MH, Parnes JR, Bismuth G, Moreira A, Rocha B, Carmo AM. Extracellular isoforms of CD6 generated by different splicing regulate targeting of CD6 to the immunological synapse.


Mola G, Vela E, Fernandez-Figueras MT, Isamat M, Munoz-Marmol AM. Exonization of Alu-generated splice variants in the survivin gene of human and non-human primates. Meidan R, Klipper E, Gilboa T, Muller L, Levy N. Endothelin-changing enzyme-1, abundance of isoforms a-d and identification of a novel alternatively spliced variant lacking a transmembrane area. McElvaine AT, Mayo KE. A dominant-unfavorable human development hormone-releasing hormone receptor splice variant inhibits GHRH binding. Matsushita M, Yamamoto R, Mitsui K, Kanazawa H. Altered motor exercise of other splice variants of the mammalian kinesin-3 protein KIF1B. Malentacchi F, Simi L, Nannelli C, Andreani M, Janni A, Pastorekova S, Orlando C. Alternative splicing variants of carbonic anhydrase IX in human non-small cell lung most cancers.


Novikov L, Park JW, Chen H, Klerman H, Jalloh AS, Gamble MJ. QKI-mediated alternative splicing of the histone variant MacroH2A1 regulates most cancers cell proliferation. Nishimura H, Fujimoto A, Tamura N, Yajima T, Wajjwalku W, Yoshikai Y. A novel autoregulatory mechanism for transcriptional activation of the IL-15 gene by a nonsecretable isoform of IL-15 generated by alternative splicing.


Liang Y, Li C, Guzman VM, Chang WW, Evinger AJ, third, Sao D, Woodward DF. Identification of a novel various splicing variant of RGS5 mRNA in human ocular tissues. Leeman JR, Weniger MA, Barth TF, Gilmore TD. Deletion analysis and alternative splicing define a transactivation inhibitory area in human oncoprotein REL. Lee JA, Tang ZZ, Black DL. An inducible change in Fox-1/A2BP1 splicing modulates the choice splicing of downstream neuronal goal exons. Kim HJ, Woo IS, Kang ES, Eun SY, Kim HJ, Lee JH, Chang KC, Kim JH, Seo HG. Identification of a truncated alternative splicing variant of human PPARgamma1 that displays dominant negative activity. Izquierdo JM, Valcarcel J. Fas-activated serine/threonine kinase synergizes with TIA-1/TIAR proteins to manage Fas various splicing.


These examples show that various splicing influences virtually all features of protein capabilities, making it a central component in gene expression. Given the widespread utilization of other splicing that affects virtually each gene, the experimentally verified examples listed here are solely the tip of the iceberg. It is probably going that genome-extensive approaches will unveil new features and new regulatory modules sooner or later. Given the widespread capabilities of alternative splicing, it's not shocking that aberrant regulation of other splicing results in human disease.


The heterogeneous nuclear RNA is required to endure splicing as a result of the primary transcript accommodates both exons and introns. HnRNA is required to bear splicing due to the presence of introns (the non-coding sequences) in it. These must be removed and the exons should be joined in a particular sequence for translation to take place. Xu Q, Lee C. Discovery of novel splice forms and practical analysis of cancer-particular alternative splicing in human expressed sequences. Weise A, Bruser K, Elfert S, Wallmen B, Wittel Y, Wohrle S, Hecht A. Alternative splicing of Tcf7l2 transcripts generates protein variants with differential promoter-binding and transcriptional activation properties at Wnt/beta-catenin targets.


Wang J, Smith PJ, Krainer AR, Zhang MQ. Distribution of SR protein exonic splicing enhancer motifs in human protein-coding genes. Treeck O, Pfeiler G, Horn F, Federhofer B, Houlihan H, Vollmer A, Ortmann O. Novel estrogen receptor beta transcript variants recognized in human breast cancer cells have an effect on cell growth and apoptosis of COS-1 cells. Thomas CP, Andrews JI, Liu KZ. Intronic polyadenylation signal sequences and alternate splicing generate human soluble Flt1 variants and regulate the abundance of soluble Flt1 in the placenta. Tao RH, Kawate H, Ohnaka K, Ishizuka M, Hagiwara H, Takayanagi R. Opposite effects of other TZF spliced variants on androgen receptor. Roberts S, Calautti E, Vanderweil S, Nguyen HO, Foley A, Baden HP, Viel A. Changes in localization of human discs large throughout keratinocyte differentiation are related to expression of alternatively spliced hDlg variants.


If a problem is found, its location is famous and appropriate Operations Systems are notified to begin the restore process. The RFTS can also present direct entry to a company database that incorporates a historical repository for the OTDR fiber traces and some other fiber data for the physical fiber plant. Therefore, it undergoes the process of splicing a course of whereby, the introns are removed and the exons-the coding sequence are joined to form the useful m RNA.


All comparisons depend on the hypothesis that functionally important various exons might be conserved in evolution. In distinction, non-functional exons will be eliminated by purifying choice. A frequently used property of alternative exons is the symmetry of an exon.

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