Advances in Genome Science

Volume: 2

Probing Intracellular Regulation

Indexed in: EMBASE, EBSCO.

Genome science or genomics is essential to advancing knowledge in the fields of biology and medicine. Specifically, researchers learn about the molecular biology behind genetic expression in living ...
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Alternative Splicing and Tumor Progression

Pp. 120-154 (35)

Claudia Ghigna, Cristina Valacca and Giuseppe Biamonti

Abstract

Alternative splicing is a key molecular mechanism for increasing the functional diversity of the eukaryotic proteomes. A large body of experimental data implicates aberrant splicing in various human diseases, including cancer. Both mutations in cis-acting splicing elements and alterations in the expression and/or activity of splicing regulatory factors drastically affect the splicing profile of many cancer-associated genes. In addition, the splicing profile of several cancer-associated genes is altered in particular types of cancer arguing for a direct role of specific splicing isoforms in tumor progression. Deciphering the mechanisms underlying aberrant splicing in cancer may prove crucial to understand how splicing machinery is controlled and integrated with other cellular processes, in particular transcription and signaling pathways. Moreover, the characterization of splicing deregulation in cancer will lead to a better comprehension of malignant transformation. Cancer-associated alternative splicing variants may be new tools for the diagnosis and classification of cancers and could be the targets for innovative therapeutical interventions based on highly selective splicing correction approaches.

Keywords:

Alternative splicing, cancer, EMT, splicing correction, splicing factors, biomarkers.

Affiliation:

Institute of Molecular Genetics (IGM), National Research Council (CNR), Via Abbiategrasso 207, 27100 Pavia, Italy.