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

• Published in: Science (American Association for the Advancement of Science) Vol. 302; no. 5653; pp. 2141 - 2144
• Main Authors: Johnson, Jason M., Castle, John, Garrett-Engele, Philip, Kan, Zhengyan, Loerch, Patrick M., Armour, Christopher D., Santos, Ralph, Schadt, Eric E., Stoughton, Roland, Shoemaker, Daniel D.
• Format: Journal Article
• Language: English
• Published: Washington, DC American Association for the Advancement of Science 19.12.2003; The American Association for the Advancement of Science
• Subjects: Alternative Splicing; Amyloid beta-Protein Precursor - analysis; Amyloid beta-Protein Precursor - genetics; Biological and medical sciences; Brain; Cell Line; Cellular biology; Coding; Developmental stages; DNA microarrays; DNA, Complementary; Evidence; Exons; Expressed Sequence Tags; Fundamental and applied biological sciences. Psychology; Gene expression; Genes; Genetic Disorders; Genetics; Genome, Human; Genomes; Humans; Hydroxymethylglutaryl CoA Reductases - analysis; Hydroxymethylglutaryl CoA Reductases - genetics; Literary Devices; Liver; Messenger RNA; Molecular and cellular biology; Molecular genetics; Molecular Sequence Data; Oligonucleotide Array Sequence Analysis; Phosphoric Monoester Hydrolases; Protein isoforms; Protein Isoforms - analysis; Proteins - analysis; Proteins - genetics; Reverse Transcriptase Polymerase Chain Reaction; Ribonucleic acid; RNA; RNA Precursors - genetics; RNA splicing; ROC Curve; Sequencing; Splicing; Tissue Distribution; Transcription. Transcription factor. Splicing. Rna processing; Transcripts (Written Records); Human; Alternative splicing; Messenger RNA; Genome; DNA chip
• ISSN: 0036-8075; 1095-9203; 1095-9203
• DOI: 10.1126/science.1090100

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.