Filatova, Alina ; Rey, Linda K. ; Lechler, Marion B. ; Schaper, Jörg ; Hempel, Maja ; Posmyk, Renata ; Szczaluba, Krzysztof ; Santen, Gijs W. E. ; Wieczorek, Dagmar ; Nuber, Ulrike A. (2019)
Mutations in SMARCB1 and in other Coffin-Siris syndrome genes lead to various brain midline defects.
In: Nature communications, 10 (1)
doi: 10.1038/s41467-019-10849-y
Artikel, Bibliographie
Kurzbeschreibung (Abstract)
Mutations in genes encoding components of BAF (BRG1/BRM-associated factor) chromatin remodeling complexes cause neurodevelopmental disorders and tumors. The mechanisms leading to the development of these two disease entities alone or in combination remain unclear. We generated mice with a heterozygous nervous system-specific partial loss-of-function mutation in a BAF core component gene, Smarcb1. These Smarcb1 mutant mice show various brain midline abnormalities that are also found in individuals with Coffin-Siris syndrome (CSS) caused by SMARCB1, SMARCE1, and ARID1B mutations and in SMARCB1-related intellectual disability (ID) with choroid plexus hyperplasia (CPH). Analyses of the Smarcb1 mutant animals indicate that one prominent midline abnormality, corpus callosum agenesis, is due to midline glia aberrations. Our results establish a novel role of Smarcb1 in the development of the brain midline and have important clinical implications for BAF complex-related ID/neurodevelopmental disorders.
| Typ des Eintrags: | Artikel |
|---|---|
| Erschienen: | 2019 |
| Autor(en): | Filatova, Alina ; Rey, Linda K. ; Lechler, Marion B. ; Schaper, Jörg ; Hempel, Maja ; Posmyk, Renata ; Szczaluba, Krzysztof ; Santen, Gijs W. E. ; Wieczorek, Dagmar ; Nuber, Ulrike A. |
| Art des Eintrags: | Bibliographie |
| Titel: | Mutations in SMARCB1 and in other Coffin-Siris syndrome genes lead to various brain midline defects. |
| Sprache: | Englisch |
| Publikationsjahr: | 4 Juli 2019 |
| Titel der Zeitschrift, Zeitung oder Schriftenreihe: | Nature communications |
| Jahrgang/Volume einer Zeitschrift: | 10 |
| (Heft-)Nummer: | 1 |
| DOI: | 10.1038/s41467-019-10849-y |
| Kurzbeschreibung (Abstract): | Mutations in genes encoding components of BAF (BRG1/BRM-associated factor) chromatin remodeling complexes cause neurodevelopmental disorders and tumors. The mechanisms leading to the development of these two disease entities alone or in combination remain unclear. We generated mice with a heterozygous nervous system-specific partial loss-of-function mutation in a BAF core component gene, Smarcb1. These Smarcb1 mutant mice show various brain midline abnormalities that are also found in individuals with Coffin-Siris syndrome (CSS) caused by SMARCB1, SMARCE1, and ARID1B mutations and in SMARCB1-related intellectual disability (ID) with choroid plexus hyperplasia (CPH). Analyses of the Smarcb1 mutant animals indicate that one prominent midline abnormality, corpus callosum agenesis, is due to midline glia aberrations. Our results establish a novel role of Smarcb1 in the development of the brain midline and have important clinical implications for BAF complex-related ID/neurodevelopmental disorders. |
| ID-Nummer: | pmid:31273213 |
| Fachbereich(e)/-gebiet(e): | 10 Fachbereich Biologie 10 Fachbereich Biologie > Stammzell- und Entwicklungsbiologie |
| Hinterlegungsdatum: | 08 Jul 2019 12:23 |
| Letzte Änderung: | 08 Jul 2019 12:23 |
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