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3. The implications of alternative splicing in the ENCODE protein complement

Author

Michael L. Tress, Pier Luigi Martelli, Adam Frankish, Gabrielle A. Reeves, Jan Jaap Wesselink, Corin Yeats, Páll ĺsólfur Ólason, Mario Albrecht, Hedi Hegyi, Alejandro Giorgetti, Domenico Raimondo, Julien Lagarde, Roman A. Laskowski, Gonzalo López, Michael I. Sadowski, James D. Watson, Piero Fariselli, Ivan Rossi, Alinda Nagy, Wang Kai, Zenia Størling, Massimiliano Orsini, Yassen Assenov, Hagen Blankenburg, Carola Huthmacher, Fidel Ramírez, Andreas Schlicker, France Denoeud, Phil Jones, Samuel Kerrien, Sandra Orchard, Stylianos E. Antonarakis, Alexandre Reymond, Ewan Birney, Søren Brunak, Rita Casadio, Roderic Guigo, Jennifer Harrow, Henning Hermjakob, David T. Jones, Thomas Lengauer, Christine A. Orengo, László Patthy, Janet M. Thornton, Anna Tramontano, Alfonso Valencia, Tress M.L., Martelli P.L., Frankish A., Reeves G.A., Wesselink J.J., Yeats C., Olason P.L., Albrecht M., Hegyi H., Giorgetti A., Raimondo D., Lagarde J., Laskowski R.A., Lopez G., Sadowski M.I., Watson J.D., Fariselli P., Rossi I., Nagy A., Kai W., Storling Z., Orsini M., Assenov Y., Blankenburg H., Huthmacher C., Ramirez F., Schlicker A., Denoeud F., Jones P., Kerrien S., Orchard S., Antonarakis S.E., Reymond A., Birney E., Brunak S., Casadio R., Guigo R., Harrow J., Hermjakob H., Jones D.T., Lengauer T., Orengo C.A., Patthy L., Thornton J.M., Tramontano A., and Valencia A.

Subjects
Protein isoform, Models, Molecular, SPLICE, STRUCTURE, Protein Conformation, RNA Splicing, FUNCTION, HUMAN, ISOFORMS, Biology, Protein Sorting Signals, Gene product, Protein structure, Databases, Genetic, RNA Precursors, Humans, Protein Isoforms, Gene, Genetics, Regulation of gene expression, ddc:616, The implications of alternative splicing in the ENCODE protein complement, Internet, Multidisciplinary, Genome, Human, Alternative splicing, function, human, human genome, isoforms, protein structure, splice, splicing, structure, Proteins, Biological Sciences, Protein Structure, Tertiary, Alternative Splicing, Gene Expression Regulation, RNA splicing, Human genome, Proteins/chemistry
Abstract

Alternative premessenger RNA splicing enables genes to generate more than one gene product. Splicing events that occur within protein coding regions have the potential to alter the biological function of the expressed protein and even to create new protein functions. Alternative splicing has been suggested as one explanation for the discrepancy between the number of human genes and functional complexity. Here, we carry out a detailed study of the alternatively spliced gene products annotated in the ENCODE pilot project. We find that alternative splicing in human genes is more frequent than has commonly been suggested, and we demonstrate that many of the potential alternative gene products will have markedly different structure and function from their constitutively spliced counterparts. For the vast majority of these alternative isoforms, little evidence exists to suggest they have a role as functional proteins, and it seems unlikely that the spectrum of conventional enzymatic or structural functions can be substantially extended through alternative splicing.

Published
2007

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