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Abundancy of polymorphic CGG repeats in the human genome suggest a broad involvement in neurological disease
Expanded CGG-repeats have been linked to neurodevelopmental and neurodegenerative disorders, including the fragile X syndrome and fragile X-associated tremor/ataxia syndrome (FXTAS). We hypothesized that as of yet uncharacterised CGG-repeat expansions within the genome contribute to human disease. T...
Autores principales: | , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Nature Publishing Group UK
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7844047/ https://www.ncbi.nlm.nih.gov/pubmed/33510257 http://dx.doi.org/10.1038/s41598-021-82050-5 |
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author | Annear, Dale J. Vandeweyer, Geert Elinck, Ellen Sanchis-Juan, Alba French, Courtney E. Raymond, Lucy Kooy, R. Frank |
author_facet | Annear, Dale J. Vandeweyer, Geert Elinck, Ellen Sanchis-Juan, Alba French, Courtney E. Raymond, Lucy Kooy, R. Frank |
author_sort | Annear, Dale J. |
collection | PubMed |
description | Expanded CGG-repeats have been linked to neurodevelopmental and neurodegenerative disorders, including the fragile X syndrome and fragile X-associated tremor/ataxia syndrome (FXTAS). We hypothesized that as of yet uncharacterised CGG-repeat expansions within the genome contribute to human disease. To catalogue the CGG-repeats, 544 human whole genomes were analyzed. In total, 6101 unique CGG-repeats were detected of which more than 93% were highly variable in repeat length. Repeats with a median size of 12 repeat units or more were always polymorphic but shorter repeats were often polymorphic, suggesting a potential intergenerational instability of the CGG region even for repeats units with a median length of four or less. 410 of the CGG repeats were associated with known neurodevelopmental disease genes or with strong candidate genes. Based on their frequency and genomic location, CGG repeats may thus be a currently overlooked cause of human disease. |
format | Online Article Text |
id | pubmed-7844047 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | Nature Publishing Group UK |
record_format | MEDLINE/PubMed |
spelling | pubmed-78440472021-01-29 Abundancy of polymorphic CGG repeats in the human genome suggest a broad involvement in neurological disease Annear, Dale J. Vandeweyer, Geert Elinck, Ellen Sanchis-Juan, Alba French, Courtney E. Raymond, Lucy Kooy, R. Frank Sci Rep Article Expanded CGG-repeats have been linked to neurodevelopmental and neurodegenerative disorders, including the fragile X syndrome and fragile X-associated tremor/ataxia syndrome (FXTAS). We hypothesized that as of yet uncharacterised CGG-repeat expansions within the genome contribute to human disease. To catalogue the CGG-repeats, 544 human whole genomes were analyzed. In total, 6101 unique CGG-repeats were detected of which more than 93% were highly variable in repeat length. Repeats with a median size of 12 repeat units or more were always polymorphic but shorter repeats were often polymorphic, suggesting a potential intergenerational instability of the CGG region even for repeats units with a median length of four or less. 410 of the CGG repeats were associated with known neurodevelopmental disease genes or with strong candidate genes. Based on their frequency and genomic location, CGG repeats may thus be a currently overlooked cause of human disease. Nature Publishing Group UK 2021-01-28 /pmc/articles/PMC7844047/ /pubmed/33510257 http://dx.doi.org/10.1038/s41598-021-82050-5 Text en © The Author(s) 2021 Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/. |
spellingShingle | Article Annear, Dale J. Vandeweyer, Geert Elinck, Ellen Sanchis-Juan, Alba French, Courtney E. Raymond, Lucy Kooy, R. Frank Abundancy of polymorphic CGG repeats in the human genome suggest a broad involvement in neurological disease |
title | Abundancy of polymorphic CGG repeats in the human genome suggest a broad involvement in neurological disease |
title_full | Abundancy of polymorphic CGG repeats in the human genome suggest a broad involvement in neurological disease |
title_fullStr | Abundancy of polymorphic CGG repeats in the human genome suggest a broad involvement in neurological disease |
title_full_unstemmed | Abundancy of polymorphic CGG repeats in the human genome suggest a broad involvement in neurological disease |
title_short | Abundancy of polymorphic CGG repeats in the human genome suggest a broad involvement in neurological disease |
title_sort | abundancy of polymorphic cgg repeats in the human genome suggest a broad involvement in neurological disease |
topic | Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7844047/ https://www.ncbi.nlm.nih.gov/pubmed/33510257 http://dx.doi.org/10.1038/s41598-021-82050-5 |
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