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Huntington's disease gene hunters: an expanding tale

Rosser, Anne E. ORCID: and Jones, Lesley ORCID: 2022. Huntington's disease gene hunters: an expanding tale. Movement Disorders Clinical Practice 9 (3) , pp. 330-333. 10.1002/mdc3.13375

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MacDonald ME. A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. Cell 1993;72:971–983. It is 28 years since the Huntington's Disease (HD) gene and mutation were identified and published in Cell by the Huntington's Disease Collaborative Research Group (HD-CRG; Fig. 1A).1 The genetic defect causing HD had been assigned to chromosome 4 in 1983 in one of the first successful linkage analyses using polymorphic DNA markers in humans,2 but it took another ten years to pinpoint the gene and determine the mutation. The long lag was largely because this research was conducted before the human genome was mapped, and was the culmination of a painstaking process involving repeatedly refining the location of the gene, based on locating markers and cloning transcripts from the genome across six independent laboratories. The nature of the genetic mutation—an expanded CAG repeat sequence—was also instrumental in the resolution of this detective story. Expanded repeats in DNA had already been associated with several diseases that had features in common with HD, such as genetic anticipation, including fragile X syndrome,3 spinal and bulbar muscular atrophy,4 and myotonic dystrophy.5-7 This meant the HD-CRG were actively looking for length mutations that segregated with disease that might indicate the presence of an expanding repeat tract. As we enter a new phase of HD research, with the advent of trials of potential disease-modifying treatments, it seems a good time to reflect on the legacy of the HD-CRG publication.

Item Type: Article
Date Type: Publication
Status: Published
Schools: Medicine
Additional Information: This is an open access article under the terms of the Creative Commons Attribution License
Publisher: Wiley
ISSN: 2330-1619
Funders: MRC
Date of First Compliant Deposit: 23 November 2021
Date of Acceptance: 18 November 2021
Last Modified: 10 May 2023 21:38

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