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Title: Differential usage of transcriptional start sites and polyadenylation sites in FMR1 premutation alleles(dagger)
Authors: Tassone, Flora ×
De Rubeis, Silvia
Carosi, Chiara
La Fata, Giorgio
Serpa, Gisele
Raske, Christopher
Willemsen, Rob
Hagerman, Paul J
Bagni, Claudia #
Issue Date: Aug-2011
Publisher: Oxford University Press
Series Title: Nucleic Acids Research vol:39 issue:14 pages:6172-6185
Abstract: 5'- and 3'-untranslated regions (UTRs) are important regulators of gene expression and play key roles in disease progression and susceptibility. The 5'-UTR of the fragile X mental retardation 1 (FMR1) gene contains a CGG repeat element that is expanded (> 200 CGG repeats; full mutation) and methylated in fragile X syndrome (FXS), the most common form of inherited intellectual disability (ID) and known cause of autism. Significant phenotypic involvement has also emerged in some individuals with the premutation (55-200 CGG repeats), including fragile X-associated premature ovarian insufficiency (FXPOI) in females, and the neurodegenerative disorder, fragile X-associated tremor/ataxia syndrome (FXTAS), in older adult carriers. Here, we show that FMR1 mRNA in human and mouse brain is expressed as a combination of multiple isoforms that use alternative transcriptional start sites and different polyadenylation sites. Furthermore, we have identified a novel human transcription start site used in brain but not in lymphoblastoid cells, and have detected FMR1 isoforms generated through the use of both canonical and non-canonical polyadenylation signals. Importantly, in both human and mouse, a specific regulation of the UTRs is observed in brain of FMR1 premutation alleles, suggesting that the transcript variants may play a role in premutation-related pathologies.
ISSN: 0305-1048
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Department of Human Genetics - miscellaneous
Laboratory for Molecular Neurobiology
× corresponding author
# (joint) last author

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