title: 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, 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.
authors.affiliation: Rosetta Inpharmatics LLC, Merck & Co., Inc., 12040 115th Avenue N.E., Kirkland, WA 98034, USA. jason_johnson@merck.com
authors.forename: Jason M
authors.initials: JM
authors.lastname: Johnson
authors.forename: John
authors.initials: J
authors.lastname: Castle
authors.forename: Philip
authors.initials: P
authors.lastname: Garrett-Engele
authors.forename: Zhengyan
authors.initials: Z
authors.lastname: Kan
authors.forename: Patrick M
authors.initials: PM
authors.lastname: Loerch
authors.forename: Christopher D
authors.initials: CD
authors.lastname: Armour
authors.forename: Ralph
authors.initials: R
authors.lastname: Santos
authors.forename: Eric E
authors.initials: EE
authors.lastname: Schadt
authors.forename: Roland
authors.initials: R
authors.lastname: Stoughton
authors.forename: Daniel D
authors.initials: DD
authors.lastname: Shoemaker
mesh_terms: D017398:Alternative Splicing; D016564:Amyloid beta-Protein Precursor / Q000032:analysis / Q000235:genetics; D002460:Cell Line; D018076:DNA, Complementary; D005091:Exons; D020224:Expressed Sequence Tags; D015894:Genome, Human; D006801:Humans; D006903:Hydroxymethylglutaryl CoA Reductases / Q000032:analysis / Q000235:genetics; D008969:Molecular Sequence Data; D020411:Oligonucleotide Array Sequence Analysis; D010744:Phosphoric Monoester Hydrolases; D020033:Protein Isoforms / Q000032:analysis; D011506:Proteins / Q000032:analysis / Q000235:genetics; D012322:RNA Precursors / Q000235:genetics*; D012372:ROC Curve; D020133:Reverse Transcriptase Polymerase Chain Reaction; D014018:Tissue Distribution
chemical_list: D016564:Amyloid beta-Protein Precursor; D018076:DNA, Complementary; D020033:Protein Isoforms; D011506:Proteins; D012322:RNA Precursors; D006903:Hydroxymethylglutaryl CoA Reductases; D010744:Phosphoric Monoester Hydrolases; C075695:OCRL protein, human