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

被引：521

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 89 条

[1] Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis type 1 [J].

Ars, E ;

Serra, E ;

García, J ;

Kruyer, H ;

Gaona, A ;

Lázaro, C ;

Estivill, X .

HUMAN MOLECULAR GENETICS, 2000, 9 (02) :237-247

[2] Coupling RNA polymerase II transcription with pre-mRNA processing [J].

Bentley, D .

CURRENT OPINION IN CELL BIOLOGY, 1999, 11 (03) :347-351

[3] EXON RECOGNITION IN VERTEBRATE SPLICING [J].

BERGET, SM .

JOURNAL OF BIOLOGICAL CHEMISTRY, 1995, 270 (06) :2411-2414

[4] Protein diversity from alternative splicing: A challenge for bioinformatics and post-genome biology [J].

Black, DL .

CELL, 2000, 103 (03) :367-370

[5] Exonic splicing enhancers: mechanism of action, diversity and role in human genetic diseases [J].

Blencowe, BJ .

TRENDS IN BIOCHEMICAL SCIENCES, 2000, 25 (03) :106-110

[6] Nuclear factor TDP-43 and SR proteins promote in vitro and in vivo CFTR exon 9 skipping [J].

Buratti, E ;

Dörk, T ;

Zuccato, E ;

Pagani, F ;

Romano, M ;

Baralle, FE .

EMBO JOURNAL, 2001, 20 (07) :1774-1784

[7] REGULATION OF ALTERNATIVE SPLICING IN-VIVO BY OVEREXPRESSION OF ANTAGONISTIC SPLICING FACTORS [J].

CACERES, JF ;

STAMM, S ;

HELFMAN, DM ;

KRAINER, AR .

SCIENCE, 1994, 265 (5179) :1706-1709

[8] Protein-interaction modules that organize nuclear function:: FF domains of CA150 bind the phosphoCTD of RNA polymerase II [J].

Carty, SM ;

Goldstrohm, AC ;

Suñé, C ;

Garcia-Blanco, MA ;

Greenleaf, AL .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2000, 97 (16) :9015-9020

[9] An intron element modulating 5' splice site selection in the hnRNP A1 pre-mRNA interacts with hnRNP A1 [J].

Chabot, B ;

Blanchette, M ;

Lapierre, I ;

LaBranche, H .

MOLECULAR AND CELLULAR BIOLOGY, 1997, 17 (04) :1776-1786

[10] Silent nucleotide substitution in the sterol 27-hydroxylase gene (CYP 27) leads to alternative pre-mRNA splicing by activating a cryptic 5′ splice site at the mutant codon in cerebrotendinous xanthomatosis patients [J].

Chen, W ;

Kubota, S ;

Teramoto, T ;

Nishimura, Y ;

Yonemoto, K ;

Seyama, Y .

BIOCHEMISTRY, 1998, 37 (13) :4420-4428

← 1 2 3 4 5 6 7 8 9 →