Article
Biochemistry & Molecular Biology
Ling Liu, Urmi Das, Samuel Ogunsola, Jiuyong Xie
Summary: This study focuses on the pairing of splice sites across introns or exons in rat GH3 pituitary cells, revealing correlations between RISE indexes at specific introns or exons and inversely correlated with adjacent exons usage. The modulation of paired indexes by depolarization and disruptible by 5-aza-Cytidine was also observed. The nucleotide matrices of RISE-positive splice sites deviated significantly from rat consensus.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Review
Oncology
Sunkyung Choi, Namjoon Cho, Eun-Mi Kim, Kee K. Kim
Summary: Alternative pre-mRNA splicing plays a critical role in generating multiple mRNA and increasing protein diversity. Specific splicing isoforms have been found to be important in cellular processes, particularly in regulating cell numbers. Abnormal expression of splicing isoforms and factors, as well as disruptions in splicing caused by genetic mutations, are implicated in cancer development and progression. Alternative splicing has potential as a therapeutic target for cancer.
CANCER CELL INTERNATIONAL
(2023)
Article
Multidisciplinary Sciences
Yang Pan, John W. Phillips, Beatrice D. Zhang, Miyako Noguchi, Eric Kutschera, Jami McLaughlin, Pavlo A. Nesterenko, Zhiyuan Mao, Nathanael J. Bangayan, Robert Wang, Wendy Tran, Harry T. Yang, Yuanyuan Wang, Yang Xu, Matthew B. Obusan, Donghui Cheng, Alex H. Lee, Kathryn E. Kadash-Edmondson, Ameya Champhekar, Cristina Puig-Saus, Antoni Ribas, Robert M. Prins, Christopher S. Seet, Gay M. Crooks, Owen N. Witte, Yi Xing
Summary: This study describes a computational platform called IRIS that can discover tumor antigens derived from alternative splicing, providing potential targets for TCR and CAR-T immunotherapies. Through the analysis of transcriptomics and immuno-peptidomics data, the study demonstrates that the predicted targets by IRIS can bind with HLA molecules. The study illustrates the contribution of alternative splicing to the repertoire of tumor antigens and demonstrates the utility of IRIS in discovering AS-derived antigens and expanding cancer immunotherapies.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2023)
Article
Biochemistry & Molecular Biology
Francisco Carranza, Hossein Shenasa, Klemens J. Hertel
Summary: Alternative splicing is a highly combinatorial mechanism that allows higher eukaryotes to increase mRNA diversity. The selection of alternative splice sites is influenced by sequence, cis-regulatory elements, exon and intron length, and RNA secondary structures. The study showed that the mode of splice site recognition, either intron or exon definition, plays a role in alternative splicing decisions.
Article
Plant Sciences
Keiko Inaba-Hasegawa, Ayumi Ohmura, Masayo Nomura, Masahiro Sugiura
Summary: Chloroplast genomes in land plants contain approximately 20 intron-containing genes, similar to group II introns found in fungi, algae, and some bacteria, but lacking self-splicing capability. Researchers developed an in vitro system using tobacco chloroplasts to study splicing reactions, revealing differences in splicing mechanisms between chloroplast pre-mRNA and self-splicing group II introns.
PLANT AND CELL PHYSIOLOGY
(2021)
Article
Genetics & Heredity
Zeru Li, Cheng Qin, Bangbo Zhao, Yuanyang Wang, Tianyu Li, Yutong Zhao, Weibin Wang
Summary: The study identified a new intron retention gene in pancreatic ductal adenocarcinoma, which is regulated by the upstream splicer DHX38. The reduction of DHX38 expression leads to the retention of the fourth intron of RELL2, causing nonsense-mediated mRNA decay and inhibiting apoptosis of pancreatic cancer cells, ultimately promoting drug resistance. This research provides a potential therapeutic target for pancreatic ductal adenocarcinoma.
Article
Biochemistry & Molecular Biology
Franziska Alfen, Elena Putscher, Michael Hecker, Uwe Klaus Zettl, Andreas Hermann, Jan Lukas
Summary: Fabry disease is a rare genetic disorder caused by mutations in the GLA gene. This study investigated the impact of these mutations on splicing behavior and found that abnormal splicing can lead to reduced enzyme activity and affect treatment options. Experimental analysis confirmed alternative splicing events for specific mutations, highlighting the importance of splicing phenotype analysis in studying exonic GLA gene mutations.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Cell Biology
Yanfei Wang, Cuiqiao Zhang, Wu Peng, Haibo Du, Yuehui Xi, Zhigang Xu
Summary: This study further explored the role of RBM24 in hearing and balance through conditional knockout mice and found that the loss of RBM24 results in severe deficits. It was observed that the development of hair cells was significantly affected, leading to degeneration and disorganization of the hair bundles. RNAseq analysis also identified several genes whose mRNA stability or pre-mRNA alternative splicing is affected by RBM24 knockout.
JOURNAL OF CELLULAR PHYSIOLOGY
(2023)
Article
Immunology
Elena Putscher, Michael Hecker, Brit Fitzner, Nina Boxberger, Margit Schwartz, Dirk Koczan, Peter Lorenz, Uwe Klaus Zettl
Summary: This study found that genetic variants from MS risk loci affect pre-mRNA splicing. These findings substantiate the role of alternative splicing events in the genetics of MS. Further research on how disease-causing genetic variants modify the interactions between splicing regulatory sequence elements and RNA-binding proteins can help deepen our understanding of the genetic susceptibility to MS.
FRONTIERS IN IMMUNOLOGY
(2022)
Article
Biochemistry & Molecular Biology
Mingtian Deng, Baobao Chen, Zifei Liu, Yongjie Wan, Dongxu Li, Yingnan Yang, Feng Wang
Summary: YBX1 plays important roles in maternal mRNA decay, alternative splicing, and transcriptional activity during early embryogenesis. These findings broaden our understanding of YBX1 functions.
CELL AND BIOSCIENCE
(2022)
Review
Biochemistry & Molecular Biology
Jingya Lin, Ziqiang Zhu
Summary: This review discusses how plants adapt to high temperatures through pre-mRNA splicing, and the significance of this splicing regulation for plant growth and development.
PLANT MOLECULAR BIOLOGY
(2021)
Article
Biochemistry & Molecular Biology
Kazuhiro Maeta, Manal Farea, Hisahide Nishio, Masafumi Matsuo
Summary: This study identified a novel antisense oligonucleotide called KMM001 that inhibits the maturation of myostatin mRNA, resulting in decreased myostatin protein levels. KMM001 also inhibits SMAD-mediated myostatin signaling and promotes human myoblast proliferation. These findings suggest that KMM001 has potential therapeutic applications for muscle-wasting conditions.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Review
Genetics & Heredity
Zhongjing Su, Dongyang Huang
Summary: Alternative splicing plays a critical role in the regulation of immune cell development and immune activity, with aberrant splicing leading to abnormal immune responses. This review summarizes recent discoveries on immune-associated alternative splice variants, clinical disorders, and regulatory mechanisms.
Article
Biochemistry & Molecular Biology
Chun Wu, Xiaolong Lu, Shaohua Lu, Hongwei Wang, Dehua Li, Jing Zhao, Jingjie Jin, Zhenghua Sun, Qing-Yu He, Yang Chen, Gong Zhang
Summary: In this study, a full-length RNC-seq strategy was demonstrated to construct a protein database containing all AS isoforms, and it showed higher efficiency and accuracy in identifying protein isoforms.
FRONTIERS IN MOLECULAR BIOSCIENCES
(2022)
Review
Immunology
Frank Fang Yao Lee, Scott Alper
Summary: While TLR signaling is necessary to combat infection, persistent inflammation can cause damage and contribute to various inflammatory disorders. Alternative pre-mRNA splicing plays a role in terminating TLR signaling by producing dominant negative inhibitors that limit inflammation. Understanding the production and function of these alternative isoforms may provide insights into inflammatory disease.
FRONTIERS IN IMMUNOLOGY
(2022)