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dc.contributor.authorAnnear, Dale J.
dc.contributor.authorVandeweyer, Geert
dc.contributor.authorElinck, Ellen
dc.contributor.authorSanchis-Juan, Alba
dc.contributor.authorFrench, Courtney E.
dc.contributor.authorRaymond, Lucy
dc.contributor.authorKooy, R. Frank
dc.date.accessioned2021-01-28T16:15:27Z
dc.date.available2021-01-28T16:15:27Z
dc.date.issued2021-01-28
dc.date.submitted2020-07-16
dc.identifier.others41598-021-82050-5
dc.identifier.other82050
dc.identifier.urihttps://www.repository.cam.ac.uk/handle/1810/316827
dc.descriptionFunder: Marguerite-Marie Delacroix foundation
dc.descriptionFunder: Fonds Wetenschappelijk Onderzoek - Vlaanderen (FWO)
dc.descriptionFunder: NIHR BioResource
dc.descriptionFunder: Rosetrees Trust, Newton Trust, National Institute for Health Research (NIHR) for the Cambridge Biomedical Research Centre
dc.descriptionFunder: Methusalem-OEC grant – “GENOMED”
dc.description.abstractAbstract: 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.
dc.languageen
dc.publisherNature Publishing Group UK
dc.rightsAttribution 4.0 International (CC BY 4.0)en
dc.rights.urihttps://creativecommons.org/licenses/by/4.0/en
dc.subjectArticle
dc.subject/631/208/1516
dc.subject/631/208/366
dc.subject/631/208/211
dc.subject/631/208/211/2120
dc.subject/631/208/726
dc.subject/631/1647/514/1948
dc.subject/631/1647/48
dc.subjectarticle
dc.titleAbundancy of polymorphic CGG repeats in the human genome suggest a broad involvement in neurological disease
dc.typeArticle
dc.date.updated2021-01-28T16:15:27Z
prism.issueIdentifier1
prism.publicationNameScientific Reports
prism.volume11
dc.identifier.doi10.17863/CAM.63942
dcterms.dateAccepted2020-12-29
rioxxterms.versionofrecord10.1038/s41598-021-82050-5
rioxxterms.versionVoR
rioxxterms.licenseref.urihttp://creativecommons.org/licenses/by/4.0/
dc.identifier.eissn2045-2322


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Attribution 4.0 International (CC BY 4.0)
Except where otherwise noted, this item's licence is described as Attribution 4.0 International (CC BY 4.0)