1. Expanded CAG Repeats in ATXN1, ATXN2, ATXN3, and HTT in the 1000 Genomes Project.
- Author
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Akçimen F, Ross JP, Liao C, Spiegelman D, Dion PA, and Rouleau GA
- Subjects
- Alleles, Ataxin-1 genetics, Ataxin-2 genetics, Ataxin-3 genetics, Humans, Huntingtin Protein genetics, Repressor Proteins genetics, Trinucleotide Repeat Expansion genetics, Trinucleotide Repeats genetics, Huntington Disease, Spinocerebellar Ataxias genetics
- Abstract
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., (© 2020 International Parkinson and Movement Disorder Society.)
- Published
- 2021
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