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Title: Structural studies of proteins involved in spinal muscular atrophy (SMA): Sam68 and its interaction with RNA
Author: Serrano Pertierra, Esther
Director: Merino Arranz, David
Tutor: Nadal Rovira, Marta
Keywords: spinal muscular atrophy
Issue Date: Jun-2018
Publisher: Universitat Oberta de Catalunya (UOC)
Abstract: Spinal muscular atrophy (SMA) is an autosomal recessive, and neurodegenerative disease, most of the cases caused by mutations in the SMN1 gene. The expression levels of the homologue gene, SMN2, do not compensate the activity of the SMN protein. A number of studies have described that the instability of the SMN2 gene is due to a C-T transition in exon 7, which causes that the majority of SMN2 transcripts are alternatively spliced, excluding exon 7. Sam68 is a member of the STAR family of proteins (signal transduction and activation of RNA), which regulates the alternative splicing of several genes involved in the neurogenesis. Inhibition of Sam68's activity can rescue SMN activity, suggesting an important role of this protein in the disease. The development of short interfering peptides / molecules to modulate the alternative splicing of the SMN2 gene may be effective and improve the motor function. This approach requires the resolution of the 3D-structure of Sam68, as well as the modeling of the protein-RNA interaction. In this project, structural studies Sam68 have been carried out by using different computational tools for protein structure prediction, as well as for prediction of RNA-protein interactions. The scores obtained were greater in the area corresponding to the KH domain (RNA-binding domain), although the reliability prediction of RNA-interacting residues was more limited due to the lack of experimental research available in the databases.
Language: English
Appears in Collections:Bachelor thesis, research projects, etc.

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