Submitted by ja607 on
| 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 |
