NDLI: A human CCT5 gene mutation causing distal neuropathy impairs hexadecamer assembly in an archaeal model

Content Provider	PubMed Central
Author	Min, Wonki Angileri, Francesca Luo, Haibin Lauria, Antonino Shanmugasundaram, Maruda Almerico, Anna Maria Cappello, Francesco Macario, Everly Conway De Lednev, Igor K. Macario, Alberto J. L. Robb, Frank T.
Copyright Year	2014
Abstract	Chaperonins mediate protein folding in a cavity formed by multisubunit rings. The human CCT has eight non-identical subunits and the His147Arg mutation in one subunit, CCT5, causes neuropathy. Knowledge is scarce on the impact of this and other mutations upon the chaperone's structure and functions. To make progress, experimental models must be developed. We used an archaeal mutant homolog and demonstrated that the His147Arg mutant has impaired oligomeric assembly, ATPase activity, and defective protein homeostasis functions. These results establish for the first time that a human chaperonin gene defect can be reproduced and studied at the molecular level with an archaeal homolog. The major advantage of the system, consisting of rings with eight identical subunits, is that it amplifies the effects of a mutation as compared with the human counterpart, in which just one subunit per ring is defective. Therefore, the slight deficit of a non-lethal mutation can be detected and characterized.
Related Links	http://dx.doi.org/10.1038/srep06688
Starting Page	6688
File Format	PDF
ISSN	20452322
e-ISSN	20452322
Journal	Scientific Reports
Volume Number	4
Language	English
Publisher	Nature Publishing Group
Publisher Date	2014-10-01
Access Restriction	Open
Rights Holder	Nature Publishing Group
Subject Keyword	Science and technology Research in Higher Education
Content Type	Text
Resource Type	Article
Subject	Multidisciplinary

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