Cardiff University | Prifysgol Caerdydd ORCA
Online Research @ Cardiff 
WelshClear Cookie - decide language by browser settings

Methods for assessing DNA repair and repeat expansion in Huntington's Disease

Massey, Thomas ORCID:, McAllister, Branduff and Jones, Lesley ORCID: 2018. Methods for assessing DNA repair and repeat expansion in Huntington's Disease. Precious, Sophie V., Rosser, Anne E. ORCID: and Dunnett, Stephen B. ORCID:, eds. Huntington’s Disease, Vol. 1780. Methods in Molecular Biology, Humana Press, pp. 483-495. (10.1007/978-1-4939-7825-0_22)

[thumbnail of Massey_Final_Ch22.pdf]
PDF - Accepted Post-Print Version
Download (479kB) | Preview


Huntington’s disease (HD) is caused by a CAG repeat expansion in the HTT gene. Repeat length can change over time, both in individual cells and between generations, and longer repeats may drive pathology. Cellular DNA repair systems have long been implicated in CAG repeat instability but recent genetic evidence from humans linking DNA repair variants to HD onset and progression has reignited interest in this area. The DNA damage response plays an essential role in maintaining genome stability, but may also license repeat expansions in the context of HD. In this chapter we summarize the methods developed to assay CAG repeat expansion/contraction in vitro and in cells, and review the DNA repair genes tested in mouse models of HD. While none of these systems is currently ideal, new technologies, such as long-read DNA sequencing, should improve the sensitivity of assays to assess the effects of DNA repair pathways in HD. Improved assays will be essential precursors to high-throughput testing of small molecules that can alter specific steps in DNA repair pathways and perhaps ameliorate expansion or enhance contraction of the HTT CAG repeat.

Item Type: Book Section
Date Type: Published Online
Status: Published
Schools: Medicine
MRC Centre for Neuropsychiatric Genetics and Genomics (CNGG)
Publisher: Humana Press
ISBN: 9781493978243
ISSN: 1064-3745
Funders: MRC, ABN
Date of First Compliant Deposit: 20 June 2018
Date of Acceptance: 1 June 2018
Last Modified: 22 Jan 2024 07:28

Citation Data

Cited 6 times in Scopus. View in Scopus. Powered By Scopus® Data

Actions (repository staff only)

Edit Item Edit Item


Downloads per month over past year

View more statistics