The myotonic distrophy kinase 3' untranslated region and its effect on gene expression.

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Title: The myotonic distrophy kinase 3' untranslated region and its effect on gene expression.
Authors: Ang, Caroline Wan-Yin.
Date: 1995
Abstract: A mutation occurring outside the coding region in the 3$\sp\prime$UTR or the myotonic dystrophy kinase (DMK) suggests the formation of a defective gene product may not be involved in the disease process. Instead, the effect of the repeat expansion may be directed toward gene regulation or expression. In this study, investigation of the possibility or cellular factors capable of directly binding DNA or RNA revealed the presence of at least two factors in cytosolic extract. Mobility shift assays were done using an RNA probe comprising a portion of the 3$\sp\prime$UTR containing the repeat region and approximately 150bp of upstream and downstream flanking sequence. Probes with repeat sizes of 13 repeats, 45 repeats, and 90 repeats did not appear to vary greatly in gel mobility complex size. Clones using the CAT reporter gene (Gorman et al., 1982) with the DMK 3$\sp\prime$UTR containing repeat sizes from 5 to 90 repeats were constructed. Transient transfection of the constructs into TE32 cells and assay for CAT gene expression revealed increased CAT activity correlating with increasing repeat size. Deletion of portions of the 3$\sp\prime$UTR sequence, either up- or downstream of the repeat region abrogated any CAT activity from constructs containing these variants. The complete inactivity of the deletion clones suggests the repeat sequence must be presented in the context of the full 3$\sp\prime$UTR to impose any regulatory control. Taken together, these data suggest a role for the DMK 3$\sp\prime$UTR in the regulation of gene expression. (Abstract shortened by UMI.)
URL: http://hdl.handle.net/10393/9785
http://dx.doi.org/10.20381/ruor-16503
CollectionTh├Ęses, 1910 - 2010 // Theses, 1910 - 2010
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