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Molecular investigation of TBP allele length:

Reid, Suzanne J., Rees, Mark I., van Roon-Mom, Willeke M.C., Jones, Lesley, MacDonald, Marcy E., Sutherland, Greg, During, Matthew J., Faull, Richard L.M., Owen, Michael John, Dragunow, Mike and Snell, Russell G. 2003. Molecular investigation of TBP allele length:. Neurobiology of Disease 13 (1) , pp. 37-45. 10.1016/S0969-9961(03)00014-7

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Abstract

Recently, an inherited spinocerebellar ataxia (SCA17) has been attributed to polyglutamine coding expansions within the gene coding for human TATA-box binding protein (TBP). The normal repeat range is 25-42 units with patients having as few as 46 repeats. We undertook a TBP repeat length population study showing its relative stability, skewed distribution, and substantial population specific differences. To investigate the mechanism of neurodegeneration in SCA17 we have developed a cellular model expressing full-length TBP with a range of polyQ expansions. As has been found with other polyQ cellular models, insoluble intracellular inclusions form in a repeat-length-dependent manner. In addition, we have shown that the expanded TBP polyQ tract is able to interact with other overexpressed polyQ-containing proteins. Importantly, overexpression of expanded TBP results in increased Cre-dependent transcriptional activity. As TBP is required for transcription by all RNA polymerases, this may indicate a mechanism for aberrant polyQ gain of function.

Item Type: Article
Date Type: Publication
Status: Published
Schools: Medicine
MRC Centre for Neuropsychiatric Genetics and Genomics (CNGG)
Neuroscience and Mental Health Research Institute (NMHRI)
Subjects: R Medicine > R Medicine (General)
Publisher: Elsevier
ISSN: 0969-9961
Last Modified: 25 Dec 2017 20:29
URI: http://orca.cf.ac.uk/id/eprint/82297

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