Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2021 Dec 16;9(3):330-333.
doi: 10.1002/mdc3.13375. eCollection 2022 Apr.

Huntington's Disease Gene Hunters: An Expanding Tale

Affiliations

Huntington's Disease Gene Hunters: An Expanding Tale

Anne E Rosser et al. Mov Disord Clin Pract. .
No abstract available

Keywords: CAG repeat expansion; Huntington's; gene discovery.

PubMed Disclaimer

Conflict of interest statement

AER is supported through funding from UKRI (MR/T033428/1) and Health and Care research Wales and Horizon 2020. LJ is supported by CHDI, LoQus23 Therapeutics and the MRC (UKDRI studentship). AER and LJ serve on the European Huntington's disease network executive committee. AR and LJ hold renumerated positions on several pharmaceutical industry scientific advisory boards, as declared below.

Figures

FIG. 1
FIG. 1
(A) Members of the Huntington's Disease Collaborative Research Group (HD‐CRG), taken at a workshop in Islamorada in the late 1980s (kindly supplied by Professor G Bates). (B) The discovery of the gene for HD has led to multiple potential disease‐modifying targets, such as targeting DNA repair proteins with the aim of reducing CAG expansion in the brain, and strategies to reduce levels of huntingtin protein, which aims to reduce the toxic effects of the mutant protein. Fig1 A supplied by Professor Gillian Bates, UCL, London UK.

References

    1. MacDonald ME. A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. Cell 1993;72:971–983. - PubMed
    1. Gusella JF, Wexler NS, Conneally PM, et al. A polymorphic DNA marker genetically linked to Huntington's disease. Nature 1983;306:234–238. - PubMed
    1. Fu Y et al. Variation of the CGG repeat at the fragile X site results in genetic instability: resolution of the Sherman paradox. Cell 1991;67:1047–1058. - PubMed
    1. La Spada AR, Wilson EM, Lubahn DB, Harding AE, Fischbeck KH. Androgen receptor gene mutations in X‐linked spinal and bulbar muscular atrophy. Nature 1991;352:77–79. - PubMed
    1. Harley H, Brook JD, Rundle SA, et al. Expansion of an unstable DNA region and phenotypic variation in myotonic dystrophy. Nature 1992;355:545–546. - PubMed

LinkOut - more resources