Abundancy of polymorphic CGG repeats in the human genome suggest a broad involvement in neurological disease
Annear, Dale J.
French, Courtney E.
Kooy, R. Frank
Nature Publishing Group UK
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Annear, D. J., Vandeweyer, G., Elinck, E., Sanchis-Juan, A., French, C. E., Raymond, L., & Kooy, R. F. (2021). Abundancy of polymorphic CGG repeats in the human genome suggest a broad involvement in neurological disease. Scientific Reports, 11 (1)https://doi.org/10.1038/s41598-021-82050-5
Funder: Marguerite-Marie Delacroix foundation
Funder: Fonds Wetenschappelijk Onderzoek - Vlaanderen (FWO)
Funder: NIHR BioResource
Funder: Rosetrees Trust, Newton Trust, National Institute for Health Research (NIHR) for the Cambridge Biomedical Research Centre
Funder: Methusalem-OEC grant – “GENOMED”
Abstract: 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.
Article, /631/208/1516, /631/208/366, /631/208/211, /631/208/211/2120, /631/208/726, /631/1647/514/1948, /631/1647/48, article
External DOI: https://doi.org/10.1038/s41598-021-82050-5
This record's URL: https://www.repository.cam.ac.uk/handle/1810/316827
Attribution 4.0 International (CC BY 4.0)
Licence URL: https://creativecommons.org/licenses/by/4.0/