Alternative splicing:: multiple control mechanisms and involvement in human disease

被引：518

作者：

Cáceres, JF ^{[1
]}

Kornblihtt, AR

机构：

[1] Western Gen Hosp, MRC, Human Genet Unit, Edinburgh EH4 2XU, Midlothian, Scotland

[2] Univ Buenos Aires, Fac Ciencias Exactas & Nat, Dept Fisiol Biol Mol & Celular, Lab Fisiol & Biol Mol, RA-1428 Buenos Aires, DF, Argentina

来源：

TRENDS IN GENETICS | 2002年 / 18卷 / 04期

基金：

英国医学研究理事会;

关键词：

D O I：

10.1016/S0168-9525(01)02626-9

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Alternative splicing is an important mechanism for controlling gene expression. It allows large proteomic complexity from a limited number of genes. An interplay of cis-acting sequences and trans-acting factors modulates the splicing of regulated exons. Here, we discuss the roles of the SR and hnRNP families of proteins in this process. We also focus on the role of the transcriptional machinery in the regulation of alternative splicing, and on those alterations of alternative splicing that lead to human disease.

引用

页码：186 / 193

页数：8

共 50 条

[1] Alternative Splicing in Human Physiology and Disease
Artemaki, Pinelopi I.
Kontos, Christos K.
[J]. GENES, 2022, 13 (10)
[2] Genetic Control of Expression and Splicing in Developing Human Brain Informs Disease Mechanisms
Walker, Rebecca L.
Ramaswami, Gokul
Hartl, Christopher
Mancuso, Nicholas
Gandal, Michael J.
De La Torre-Ubieta, Luis
Pasaniuc, Bogdan
Stein, Jason L.
Geschwind, Daniel H.
[J]. CELL, 2019, 179 (03) : 750 - +
[3] Immune Isoform Atlas: Landscape of Alternative Splicing in Human Immune Cells and Involvement of Dysregulated Alternative Splicing in Autoimmune Diseases
Inamo, Jun
Suzuki, Akari
Ueda, Mahoko Takahashi
Yamaguchi, Kensuke
Nishida, Hiroshi
Suzuki, Katsuya
Kaneko, Yuko
Takeuchi, Tsutomu
Hatano, Hiroaki
Ishigaki, Kazuyoshi
Ishihama, Yasushi
Yamamoto, Kazuhiko
Kochi, Yuta
[J]. ARTHRITIS & RHEUMATOLOGY, 2023, 75 : 1460 - 1462
[4] Control of human papillomavirus gene expression by alternative splicing
Graham, Sheila V.
Faizo, Arwa Ali A.
[J]. VIRUS RESEARCH, 2017, 231 : 83 - 95
[5] An alternative splicing signature in human Crohn’s disease
Daowei Li
Yuanzi Liang
Jia Lu
Yue Tan
[J]. BMC Gastroenterology, 21
[6] Functional roles of alternative splicing factors in human disease
Cieply, Benjamin
Carstens, Russ P.
[J]. WILEY INTERDISCIPLINARY REVIEWS-RNA, 2015, 6 (03) : 311 - 326
[7] An alternative splicing signature in human Crohn's disease
Li, Daowei
Liang, Yuanzi
Lu, Jia
Tan, Yue
[J]. BMC GASTROENTEROLOGY, 2021, 21 (01)
[8] Alternative splicing and disease
Kim, Eddo
Goren, Amir
Ast, Gil
[J]. RNA BIOLOGY, 2008, 5 (01) : 17 - 19
[9] Alternative splicing in disease
Orengo, James P.
Cooper, Thomas A.
[J]. ALTERNATIVE SPLICING IN THE POSTGENOMIC ERA, 2007, 623 : 212 - 223
[10] Alternative splicing and disease
Tazi, Jamal
Bakkour, Nadia
Stamm, Stefan
[J]. BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE, 2009, 1792 (01): : 14 - 26

← 1 2 3 4 5 →