The relevance of alternative RNA splicing to pharmacogenomics

被引:62
作者
Bracco, L [1 ]
Kearsey, J [1 ]
机构
[1] ExonHit Therapeut, F-75013 Paris, France
关键词
D O I
10.1016/S0167-7799(03)00146-X
中图分类号
Q81 [生物工程学(生物技术)]; Q93 [微生物学];
学科分类号
071005 ; 0836 ; 090102 ; 100705 ;
摘要
The importance of alternative RNA splicing in the generation of genetic diversity is now widely accepted. This article highlights how alternative RNA splicing can have an impact on drug efficacy and safety, and demonstrates its potential pharmacogenomic value. The analysis of the repertoire of alternative RNA splicing events could potentially identify markers of pharmacogenomic relevance with high sensitivity and specificity and also provides a route through which genes can be selected for single nucleotide polymorphism (SNP) genotyping. Recent methodological advances, including microarray and splice-dedicated expression profiling, have made it possible to perform high-throughput alternative splicing analyses.
引用
收藏
页码:346 / 353
页数:8
相关论文
共 88 条
  • [1] Nitric oxide synthases: structure, function and inhibition
    Alderton, WK
    Cooper, CE
    Knowles, RG
    [J]. BIOCHEMICAL JOURNAL, 2001, 357 (03) : 593 - 615
  • [2] Aclarubicin treatment restores SMN levels to cells derived from type I spinal muscular atrophy patients
    Andreassi, C
    Jarecki, J
    Zhou, JH
    Coovert, DD
    Monani, UR
    Chen, XC
    Whitney, M
    Pollok, B
    Zhang, ML
    Androphy, E
    Burghes, AHM
    [J]. HUMAN MOLECULAR GENETICS, 2001, 10 (24) : 2841 - 2849
  • [3] Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis type 1
    Ars, E
    Serra, E
    García, J
    Kruyer, H
    Gaona, A
    Lázaro, C
    Estivill, X
    [J]. HUMAN MOLECULAR GENETICS, 2000, 9 (02) : 237 - 247
  • [4] MCL-1S, a splicing variant of the antiapoptotic BCL-2 family member MCL-1, encodes a proapoptotic protein possessing only the BH3 domain
    Bae, J
    Leo, CP
    Hsu, SY
    Hsueh, AJW
    [J]. JOURNAL OF BIOLOGICAL CHEMISTRY, 2000, 275 (33) : 25255 - 25261
  • [5] Exon skipping in Mcl-1 results in a Bcl-2 homology domain 3 only gene product that promotes cell death
    Bingle, CD
    Craig, RW
    Swales, BM
    Singleton, V
    Zhou, P
    Whyte, MKB
    [J]. JOURNAL OF BIOLOGICAL CHEMISTRY, 2000, 275 (29) : 22136 - 22146
  • [6] Protein diversity from alternative splicing: A challenge for bioinformatics and post-genome biology
    Black, DL
    [J]. CELL, 2000, 103 (03) : 367 - 370
  • [7] STAT3 beta, a splice variant of transcription factor STAT3, is a dominant negative regulator of transcription
    Caldenhoven, E
    vanDijk, TB
    Solari, R
    Armstrong, J
    Raaijmakers, JAM
    Lammers, JWJ
    Koenderman, L
    deGroot, RP
    [J]. JOURNAL OF BIOLOGICAL CHEMISTRY, 1996, 271 (22) : 13221 - 13227
  • [8] Listening to silence and understanding nonsense: Exonic mutations that affect splicing
    Cartegni, L
    Chew, SL
    Krainer, AR
    [J]. NATURE REVIEWS GENETICS, 2002, 3 (04) : 285 - 298
  • [9] CASCINO I, 1995, J IMMUNOL, V154, P2706
  • [10] Dopamine D2 receptor-mediated inhibition of dopaminergic neurons in mice lacking D2L receptors
    Centonze, D
    Usiello, A
    Gubellini, P
    Pisani, A
    Borrelli, E
    Bernardi, G
    Calabresi, P
    [J]. NEUROPSYCHOPHARMACOLOGY, 2002, 27 (05) : 723 - 726