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Williams-Beureni sündroomi kromosoomi regiooni 22 valgu ...

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It is clear that WBSCR<strong>22</strong> protein localizes in the nucleus but nobody has demonstrated that<br />

the predicted NLS at C-terminus of WBSCR<strong>22</strong> protein is functional. Based on my study, I<br />

found that C-terminal domain is needed for nuclear transport giving free road to do further<br />

experiments, such as mutating NLS sequence and studying the effect of such mutations on the<br />

protein localization. It would also be interesting to fuse WBSCR<strong>22</strong> NLS to the terminus of an<br />

unrelated protein, such as GFP, to see if the sequence is sufficient to target the protein to the<br />

nucleus. The final goal would be to determine the transport machinery that is involved in the<br />

transport of WBSCR<strong>22</strong> to the cell nucleus, which would further help to elucidate WBSCR<strong>22</strong><br />

functions and possibly its role in the development of disease in humans.<br />

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