Article
Differential usage of transcriptional start sites and polyadenylation sites in FMR1 premutation alleles.
Nucleic acids research - 1 Aug 2011
Tassone Flora, De Rubeis Silvia, Carosi Chiara, La Fata Giorgio, Serpa Gisele, Raske Christopher, Willemsen Rob, Hagerman Paul J, Bagni Claudia
Abstract excerpt
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...
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