Genetic variation of pre-mRNA alternative splicing in human populations.

ABSTRACT: The precise splicing outcome of a transcribed gene is controlled by complex interactions between cis regulatory splicing signals and trans-acting regulators. In higher eukaryotes, alternative splicing is a prevalent mechanism for generating transcriptome and proteome diversity. Alternative splicing can modulate gene function, affect organismal phenotype and cause disease. Common genetic variation that affects splicing regulation can lead to differences in alternative splicing between human individuals and consequently impact expression level or protein function. In several well-documented examples, such natural variation of alternative splicing has indeed been shown to influence disease susceptibility and drug response. With new microarray and sequencing-based genomic technologies that can

SUBMITTER: Lu ZX 

PROVIDER: S-EPMC3339278 | biostudies-literature | 2012 Jul-Aug

REPOSITORIES: biostudies-literature