An antisense transcript spanning the CGG repeat region of FMR1 is upregulated in premutation carriers but silenced in full mutation individuals

Paula D. Ladd, Leslie E. Smith, Natalia A. Rabaia, James M. Moore, Sara A. Georges, Scott R. Hansen, Randi J Hagerman, Flora Tassone, Stephen J. Tapscott, Galina N. Filippova

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189 Scopus citations

Abstract

Expansion of the polymorphic CGG repeats within the 5′-UTR of the FMR1 gene is associated with variable transcriptional regulation of FMR1. Here we report a novel gene, ASFMR1, overlapping the CGG repeat region of FMR1 and transcribed in the antisense orientation. The ASFMR1 transcript is spliced, polyadenylated and exported to the cytoplasm. Similar to FMR1, ASFMR1 is upregulated in individuals with premutation alleles and is not expressed from full mutation alleles. Moreover, it exhibits premutation-specific alternative splicing. Taken together, these observations suggest that in addition to FMR1, ASFMR1 may contribute to the variable phenotypes associated with the CGG repeat expansion.

Original languageEnglish (US)
Pages (from-to)3174-3187
Number of pages14
JournalHuman Molecular Genetics
Volume16
Issue number24
DOIs
StatePublished - Dec 15 2007

ASJC Scopus subject areas

  • Genetics

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    Ladd, P. D., Smith, L. E., Rabaia, N. A., Moore, J. M., Georges, S. A., Hansen, S. R., Hagerman, R. J., Tassone, F., Tapscott, S. J., & Filippova, G. N. (2007). An antisense transcript spanning the CGG repeat region of FMR1 is upregulated in premutation carriers but silenced in full mutation individuals. Human Molecular Genetics, 16(24), 3174-3187. https://doi.org/10.1093/hmg/ddm293