Contribution of Gene and Protein Interactions to disesase/pathology of Spinocerebellar Ataxia 1.

The paper should provide a literature review on the topic, first an introduction to the genetics background of SCA1 then focusing on gene-gene, gene-protein, and protein-protein interactions and how they contribute to onset, disease, progression, and symptoms of SCA1. The important ones which should be included are:
– abnormal trinucleotide expansions (Burright et al., 1995; Bennett et al., 2002)
– unstable hairpin structures of RNA transcript (Sobczak & Krzyzosiak, 2004)
– AXH domain of ATXN1 (Chen et al., 2004; Chiara et al., 2005; Chiara et al., 2013)
– importance of lysine residue 772/serine residue 776’s role in site-directed mutagenesis, phosphorylation, and nuclear localization (Sobczak and Krzyzosiak, 2004; Emamian et al., 2003; Lagalwar & Orr, 2013; Chen et al., 2003; Menon et al., 2013)
– pathogenesis via gain-of-function mechanism: PQBP1, RBM17 (Okazawa et al., 2002; Okuda et al., 2003, Lim et al., 2008)
– pathogenesis via loss-of-function mechanism: capicua (Lam et al., 2006; Lim et al., 2008; Bowman et al., 2007)
– capicua’s competition with RBM17

Other papers of interest:
– Orr & Zoghbi, 2001
– Galvao et al., 2001
– Zuhlke et al., 2002

The lit review should include at least 40 primary research articles which the bulk of the essay should be based on. The paper should be concise and focused, and provide in-depth analysis of the topic. Feel free to include graphs and figures in the paper to help explain concepts – refer to the figures in the essay bodies and do not use figure captions. The papers citation should follow that of the journal Nature and should be 1950-2050 words in length (figures/references does not count toward the word limit).

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