Assessing Triplet Repeat Expansions in Human SVG-A Cell Culture.

Publication date: Oct 06, 2019

Determining the molecular mechanisms that contribute to trinucleotide repeat (TNR) expansions is essential to understanding the origin of genetically inherited diseases, such as Huntington’s disease, and to inform efforts in developing therapeutic treatments. As one resource to probe the mechanisms of TNR expansions, we describe an expansion assay in human tissue culture cells. The cell line SVG-A, derived from human astrocytes, has the important property of supporting expansions in culture, unlike many cell lines derived from patients. SVG-A cells are also amenable to standard genetic and biochemical techniques such as siRNA, CRISPR-Cas9 and enzymatic inhibitors. This combination of features allows for mechanistic studies of TNR expansions, using the quantitative genetic assay described here as a readout. The SVG-A assay has correctly identified key proteins that drive expansions and it has facilitated testing of enzymatic inhibitors that suppress expansions as potential therapeutics. This chapter describes how repeat expansions are detected, visualized, and quantified.

Williams, G.M. and Lahue, R.S. Assessing Triplet Repeat Expansions in Human SVG-A Cell Culture. 06860. 2019 Methods Mol Biol (2056):

Concepts Keywords
Assay SiRNA
Astrocytes Astrocyte
Biochemical Trinucleotide repeat disorder
Cas9 Cas9
CRISPR Trinucleotide repeat expansion
Enzymatic CRISPR
Genetic Molecular biology
Huntington Biological engineering
Key Drive Immune system
Quantitative Genetic Biotechnology
SiRNA Genome editing
SVG Branches of biology
Tissue Culture Disease
Trinucleotide Repeat


Type Source Name
disease MESH Genome instability


Original Article

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