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J. Biol. Chem., Vol. 283, Issue 3, 1229-1233, January 18, 2008

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Minireview

Genome-wide Analysis of Alternative Pre-mRNA Splicing^*

Claudia Ben-Dov¹, Britta Hartmann¹, Josefin Lundgren¹, and Juan Valcárcel^¶2

From the Centre de Regulació Genòmica, the Institució Catalana de Recerca i Estudis Avançats, and the ^¶Universitat Pompeu Fabra, 08003 Barcelona, Spain

Alternative splicing of mRNA precursors allows the synthesis of multiple mRNAs from a single primary transcript, significantly expanding the information content and regulatory possibilities of higher eukaryotic genomes. High-throughput enabling technologies, particularly large-scale sequencing and splicing-sensitive microarrays, are providing unprecedented opportunities to address key questions in this field. The picture emerging from these pioneering studies is that alternative splicing affects most human genes and a significant fraction of the genes in other multicellular organisms, with the potential to greatly influence the evolution of complex genomes. A combinatorial code of regulatory signals and factors can deploy physiologically coherent programs of alternative splicing that are distinct from those regulated at other steps of gene expression. Pre-mRNA splicing and its regulation play important roles in human pathologies, and genome-wide analyses in this area are paving the way for improved diagnostic tools and for the identification of novel and more specific pharmaceutical targets.

^* This minireview will be reprinted in the 2008 Minireview Compendium, which will be available in January, 2009. The work performed in the authors' laboratories was supported by EURASNET, the Spanish Ministry of Education and Science, the European Molecular Biology Organization, and the Swedish Research Council. This is the fifth article of five in the Alternative Splicing Minireview Series.

The on-line version of this article (available at http://www.jbc.org) contains supplemental Table 1.

¹ These authors contributed equally to this work.

² To whom correspondence should be addressed: Centre de Regulació Genòmica, Dr. Aiguader 88, 08003 Barcelona, Spain. Tel.: 34-933-160-156; E-mail: juan.valcarcel{at}crg.es.

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