Genome-Wide Survey of Human Alternative Pre-mRNA Splicing with Exon Junction Microarrays

TLDR

Alternative pre‑messenger RNA splicing is critical for development, physiology, and disease, with more than half of human genes undergoing alternative splicing. The study seeks to clarify the biological roles and regulatory mechanisms of alternative splicing across tissues and developmental stages. To achieve this, the authors employ exon‑junction microarrays to monitor splicing at every exon‑exon junction in over 10,000 multi‑exon genes across 52 tissues and cell lines. The resulting genome‑wide data identify thousands of known and novel alternative splicing events and demonstrate that at least 74 % of human multi‑exon genes are alternatively spliced.

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, systematic 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.