Abundancy of polymorphic CGG repeats in the human genome suggest a broad involvement in neurological disease

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 d...

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Autores principales:	Dale J. Annear, Geert Vandeweyer, Ellen Elinck, Alba Sanchis-Juan, Courtney E. French, Lucy Raymond, R. Frank Kooy
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2021
Materias:	Medicine R Science Q
Acceso en línea:	https://doaj.org/article/29786ec0d65d4ef5b4913ce8a16e9316
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spelling	oai:doaj.org-article:29786ec0d65d4ef5b4913ce8a16e93162021-12-02T13:24:17ZAbundancy of polymorphic CGG repeats in the human genome suggest a broad involvement in neurological disease10.1038/s41598-021-82050-52045-2322https://doaj.org/article/29786ec0d65d4ef5b4913ce8a16e93162021-01-01T00:00:00Zhttps://doi.org/10.1038/s41598-021-82050-5https://doaj.org/toc/2045-2322Abstract 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.Dale J. AnnearGeert VandeweyerEllen ElinckAlba Sanchis-JuanCourtney E. FrenchLucy RaymondR. Frank KooyNature PortfolioarticleMedicineRScienceQENScientific Reports, Vol 11, Iss 1, Pp 1-11 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R Science Q
spellingShingle	Medicine R Science Q Dale J. Annear Geert Vandeweyer Ellen Elinck Alba Sanchis-Juan Courtney E. French Lucy Raymond R. Frank Kooy Abundancy of polymorphic CGG repeats in the human genome suggest a broad involvement in neurological disease
description	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.
format	article
author	Dale J. Annear Geert Vandeweyer Ellen Elinck Alba Sanchis-Juan Courtney E. French Lucy Raymond R. Frank Kooy
author_facet	Dale J. Annear Geert Vandeweyer Ellen Elinck Alba Sanchis-Juan Courtney E. French Lucy Raymond R. Frank Kooy
author_sort	Dale J. Annear
title	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_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_sort	abundancy of polymorphic cgg repeats in the human genome suggest a broad involvement in neurological disease
publisher	Nature Portfolio
publishDate	2021
url	https://doaj.org/article/29786ec0d65d4ef5b4913ce8a16e9316
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Abundancy of polymorphic CGG repeats in the human genome suggest a broad involvement in neurological disease

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