|Title||Expanded CAG Repeats in ATXN1, ATXN2, ATXN3, and HTT in the 1000 Genomes Project.|
|Publication Type||Journal Article|
|Year of Publication||2021|
|Authors||Akçimen, F, Ross, JP, Liao, C, Spiegelman, D, Dion, PA, Rouleau, GA|
|Date Published||2021 02|
|Keywords||Alleles, 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 Journal||Mov Disord|
|Grant List||FRN 159279 / / CIHR / Canada |
UM1 HG008901 / HG / NHGRI NIH HHS / United States