The contribution of exon-skipping events on chromosome 22 to protein coding diversity
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Date
2001
Journal Title
Journal ISSN
Volume Title
Publisher
Cold Spring Harbor Laboratory Press
Abstract
Completion of the human genome sequence provides evidence for a gene count with lower bound 30,000–40,000. Significant protein complexity may derive in part from multiple transcript isoforms. Recent EST based studies have revealed that alternate transcription, including alternative splicing, polyadenylation and transcription start sites, occurs within at least 30–40% of human genes. Transcript form surveys have yet to integrate the genomic context, expression, frequency, and contribution to protein diversity of isoform variation. We determine here the degree to which protein coding diversity may be influenced by alternate expression of transcripts by exhaustive manual confirmation of genome sequence annotation, and comparison to available transcript data to accurately associate skipped exon isoforms with genomic sequence. Relative expression levels of transcripts are estimated from EST database representation. The rigorous in silico method accurately identifies exon skipping using verified genome sequence. 545 genes have been studied in this first hand-curated assessment of exon skipping on chromosome 22.
Description
Keywords
Bioinfomatics, Diversity, Biology, Protein
Citation
Hide, W. A. et al. (2001). The contribution of exon-skipping events on chromosome 22 to protein coding diversity. Genome Research, 11 (11) .1848-1853. 10.1101/gr.188001