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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 |
Journal | Mov Disord |
Volume | 36 |
Issue | 2 |
Pagination | 514-518 |
Date Published | 2021 02 |
ISSN | 1531-8257 |
Keywords | Alleles, Ataxin-1, Ataxin-2, Ataxin-3, Humans, Huntingtin Protein, Huntington Disease, Repressor Proteins, Spinocerebellar Ataxias, Trinucleotide Repeat Expansion, Trinucleotide Repeats |
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. |
DOI | 10.1002/mds.28341 |
Alternate Journal | Mov Disord |
PubMed ID | 33159825 |
Grant List | FRN 159279 / / CIHR / Canada UM1 HG008901 / HG / NHGRI NIH HHS / United States |