Genome-wide survey of human alternative pre-mRNA splicing with exon junction microarrays

Abstract

Alternative pre–messenger RNA (pre-mRNA) splicing plays important roles in development, physiology, and disease, and more than half of human genes are alternatively spliced. To understand the biological roles and regulation of alternative splicing across different tissues and stages of development, sys-tematic methods are needed. Here, we demonstrate the use of microarrays to monitor splicing at every exon-exon junction in more than 10,000 multi-exon human genes in 52 tissues and cell lines. These genome-wide data provide experimental evidence and tissue distributions for thousands of known and novel alternative splicing events. Adding to previous studies, the results indicate that at least 74 % of human multi-exon genes are alternatively spliced. Alternative pre-mRNA splicing is expected to make an important contribution to the complexity of the human proteome and at least half of human genes are alternatively spliced (1, 2). Alternative splicing (AS) ha