Alternative splicing and disease

被引：394

作者：

Tazi, Jamal ^{[2
]}

Bakkour, Nadia ^{[2
]}

Stamm, Stefan ^{[1
]}

机构：

[1] Univ Kentucky, Coll Med, Dept Mol & Cellular Biochem, Lexington, KY 40536 USA

[2] Univ Montpellier 2, Inst Mol Genet, CNRS, F-34095 Montpellier 5, France

来源：

BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE | 2009年 / 1792卷 / 01期

关键词：

Alternative splicing; Disease; Splicing code; Mutation; SPINAL MUSCULAR-ATROPHY; COLI APC GENE; STERIC-BLOCK OLIGONUCLEOTIDES; AMYOTROPHIC-LATERAL-SCLEROSIS; TISSUE-SPECIFIC EXPRESSION; RNA SECONDARY STRUCTURE; MESSENGER-RNA; FRONTOTEMPORAL DEMENTIA; ALZHEIMERS-DISEASE; TAU GENE;

D O I：

10.1016/j.bbadis.2008.09.017

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

Almost all protein-coding genes are spliced and their majority is alternatively spliced. Alternative splicing is a key element in eukaryotic gene expression that increases the coding capacity of the human genome and an increasing number of examples illustrates that the selection of wrong splice sites causes human disease. A fine-tuned balance of factors regulates splice site selection. Here, we discuss well-studied examples that show how a disturbance of this balance can cause human disease. The rapidly emerging knowledge of splicing regulation now allows the development of treatment options. (C) 2008 Elsevier B.V. All rights reserved.

引用

页码：14 / 26

页数：13

共 191 条

[1] Antisense-mediated exon skipping: A versatile tool with therapeutic and research applications [J].

Aartsma-Rus, Annemieke ;

Van Ommen, Gert-Jan B. .

RNA, 2007, 13 (10) :1609-1624

[2] Arginine-rich cell penetrating peptides: Design, structure-activity, and applications to alter pre-mRNA splicing by steric-block oligonucleotides [J].

Abes, R. ;

Arzumanov, A. ;

Moulton, H. ;

Abes, S. ;

Ivanova, G. ;

Gait, M. J. ;

Iversen, P. ;

Lebleu, B. .

JOURNAL OF PEPTIDE SCIENCE, 2008, 14 (04) :455-460

[3] cis-requirement for the maintenance of round spermatid-specific transcription [J].

Acharya, Kshitish K. ;

Govind, Chhabi K. ;

Shore, Amy N. ;

Stoler, Mark H. ;

Reddi, Prabhakara P. .

DEVELOPMENTAL BIOLOGY, 2006, 295 (02) :781-790

[4] Alternative splicing regulation by interaction of phosphatase PP2Cγ with nucleic acid-binding protein YB-1 [J].

Allemand, Eric ;

Hastings, Michelle L. ;

Murray, Michael V. ;

Myers, Michael P. ;

Krainer, Adrian R. .

NATURE STRUCTURAL & MOLECULAR BIOLOGY, 2007, 14 (07) :630-638

[5] Tau gene alternative splicing: expression patterns, regulation and modulation of function in normal brain and neurodegenerative diseases [J].

Andreadis, A .

BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE, 2005, 1739 (2-3) :91-103

[6]

Andreadis A, 2006, PROG MOLEC, V44, P89

[7] Medium-chain Acyl-CoA dehydrogenase (MCAD) mutations identified by MS/MS-Based prospective screening of newborns differ from those observed in patients with clinical symptoms: Identification and characterization of a new, prevalent mutation that results in mild MCAD deficiency [J].

Andresen, BS ;

Dobrowolski, SF ;

O'Reilly, L ;

Muenzer, J ;

McCandless, SE ;

Frazier, DM ;

Udvari, S ;

Bross, P ;

Knudsen, I ;

Banas, R ;

Chace, DH ;

Engel, P ;

Naylor, EW ;

Gregersen, N .

AMERICAN JOURNAL OF HUMAN GENETICS, 2001, 68 (06) :1408-1418

[8]

Asparuhova M., 2004, Gene Ther. Regulation, V2, P321

[9] Human, Drosophila, and C-elegans TDP43:: Nucleic acid binding properties and splicing regulatory function [J].

Ayala, YM ;

Pantano, S ;

D'Ambrogio, A ;

Buratti, E ;

Brindisi, A ;

Marchetti, C ;

Romano, M ;

Baralle, FE .

JOURNAL OF MOLECULAR BIOLOGY, 2005, 348 (03) :575-588

[10] TDP-43 regulates retinoblastoma protein phosphorylation through the repression of cyclin-dependent kinase 6 expression [J].

Ayala, Youhna M. ;

Misteli, Tom ;

Baralle, Francisco E. .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2008, 105 (10) :3785-3789

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