Alternative Splicing and Isoforms: From Mechanisms to Diseases

被引：80

作者：

Liu, Qi ^{[1
]}

Fang, Leiming ^{[1
]}

Wu, Chengjun ^{[1
]}

机构：

[1] Dalian Univ Technol, Sch Biomed Engn, Dalian 116024, Peoples R China

来源：

GENES | 2022年 / 13卷 / 03期

基金：

中国国家自然科学基金;

关键词：

alternative splicing; splicing factors; diseases; drugs; CYCLIN D1B; BREAST-CANCER; LEPTIN; SPLICEOSOME; EXPRESSION; MODULATE; TARGET; MOUSE;

D O I：

10.3390/genes13030401

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Alternative splicing of pre-mRNA is a key mechanism for increasing the complexity of proteins in humans, causing a diversity of expression of transcriptomes and proteomes in a tissue-specific manner. Alternative splicing is regulated by a variety of splicing factors. However, the changes and errors of splicing regulation caused by splicing factors are strongly related to many diseases, something which represents one of this study's main interests. Further understanding of alternative splicing regulation mediated by cellular factors is also a prospective choice to develop specific drugs for targeting the dynamic RNA splicing process. In this review, we firstly concluded the basic principle of alternative splicing. Afterwards, we showed how splicing isoforms affect physiological activities through specific disease examples. Finally, the available treatment methods relative to adjusting splicing activities have been summarized.

引用

页数：11

共 57 条

[31] Alternative splicing of AMPA receptor subunits in the 6-OHDA-lesioned rat model of Parkinson's disease and L-DOPA-induced dyskinesia [J].

Kobylecki, Christopher ;

Crossman, Alan R. ;

Ravenscroft, Paula .

EXPERIMENTAL NEUROLOGY, 2013, 247 :476-484

[32] Alternative splicing as a biomarker and potential target for drug discovery [J].

Le, Kai-qin ;

Prabhakar, Bellur S. ;

Hong, Wan-jin ;

Li, Liang-cheng .

ACTA PHARMACOLOGICA SINICA, 2015, 36 (10) :1212-1218

[33] Selective induction of alternatively spliced FynT isoform by TNF facilitates persistent inflammatory responses in astrocytes [J].

Lee, Chingli ;

Low, Clara Y. B. ;

Wong, Siew Ying ;

Lai, Mitchell K. P. ;

Tan, Michelle G. K. .

SCIENTIFIC REPORTS, 2017, 7

[34] Alternative splicing and retinal degeneration [J].

Liu, M. M. ;

Zack, D. J. .

CLINICAL GENETICS, 2013, 84 (02) :142-149

[35]

Lu FM, 2003, CANCER RES, V63, P7056

[36] Alternative Splicing as a Target for Cancer Treatment [J].

Martinez-Montiel, Nancy ;

Rosas-Murrieta, Nora Hilda ;

Anaya Ruiz, Maricruz ;

Monjaraz-Guzman, Eduardo ;

Martinez-Contreras, Rebeca .

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, 2018, 19 (02)

[37] Alternative splicing of S6K1 promotes non-small cell lung cancer survival [J].

Mei, Hong ;

Wang, Ye ;

Fan, Jiquan ;

Lin, Zhenyu .

TUMOR BIOLOGY, 2016, 37 (10) :13369-13376

[38] Cyclin D1b protein expression in breast cancer is independent of cyclin D1a and associated with poor disease outcome [J].

Millar, E. K. A. ;

Dean, J. L. ;

McNeil, C. M. ;

O'Toole, S. A. ;

Henshall, S. M. ;

Tran, T. ;

Lin, J. ;

Quong, A. ;

Comstock, C. E. S. ;

Witkiewicz, A. ;

Musgrove, E. A. ;

Rui, H. ;

LeMarchand, L. ;

Setiawan, V. W. ;

Haiman, C. A. ;

Knudsen, K. E. ;

Sutherland, R. L. ;

Knudsen, E. S. .

ONCOGENE, 2009, 28 (15) :1812-1820

[39] The human centromeric survival motor neuron gene (SMN2) rescues embryonic lethality in Smn-/- mice and results in a mouse with spinal muscular atrophy [J].

Monani, UR ;

Sendtner, M ;

Coovert, DD ;

Parsons, DW ;

Andreassi, C ;

Le, TT ;

Jablonka, S ;

Schrank, B ;

Rossol, W ;

Prior, TW ;

Morris, GE ;

Burghes, AHM .

HUMAN MOLECULAR GENETICS, 2000, 9 (03) :333-339

[40] Alternative transcription and alternative splicing in cancer [J].

Pal, Sharmistha ;

Gupta, Ravi ;

Davuluri, Ramana V. .

PHARMACOLOGY & THERAPEUTICS, 2012, 136 (03) :283-294

← 1 2 3 4 5 6 →