Expanded CAG Repeats in ATXN1, ATXN2, ATXN3, and HTT in the 1000 Genomes Project.

TitleExpanded CAG Repeats in ATXN1, ATXN2, ATXN3, and HTT in the 1000 Genomes Project.
Publication TypeJournal Article
Year of Publication2021
AuthorsAkçimen, F, Ross, JP, Liao, C, Spiegelman, D, Dion, PA, Rouleau, GA
JournalMov Disord
Date Published2021 02
KeywordsAlleles, Ataxin-1, Ataxin-2, Ataxin-3, Humans, Huntingtin Protein, Huntington Disease, Repressor Proteins, Spinocerebellar Ataxias, Trinucleotide Repeat Expansion, Trinucleotide Repeats

BACKGROUND: Spinocerebellar ataxia types 1, 2, 3 and Huntington disease are neurodegenerative disorders caused by expanded CAG repeats.

METHODS: We performed an in-silico analysis of CAG repeats in ATXN1, ATXN2, ATXN3, and HTT using 30× whole-=genome sequencing data of 2504 samples from the 1000 Genomes Project.

RESULTS: Seven HTT-positive, 3 ATXN2-positive, 1 ATXN3-positive, and 6 possibly ATXN1-positive samples were identified. No correlation was found between the repeat sizes of the different genes. The distribution of CAG alleles varied by ethnicity.

CONCLUSION: Our results suggest that there may be asymptomatic small expanded repeats in almost 0.5% of these populations. © 2020 International Parkinson and Movement Disorder Society.

Alternate JournalMov Disord
PubMed ID33159825
Grant ListFRN 159279 / / CIHR / Canada
UM1 HG008901 / HG / NHGRI NIH HHS / United States