Journal Article

An antisense transcript spanning the CGG repeat region of <i>FMR1</i> 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, R. Scott Hansen, Randi J. Hagerman, Flora Tassone, Stephen J. Tapscott and Galina N. Filippova

in Human Molecular Genetics

Volume 16, issue 24, pages 3174-3187
Published in print December 2007 | ISSN: 0964-6906
Published online October 2007 | e-ISSN: 1460-2083 | DOI: http://dx.doi.org/10.1093/hmg/ddm293
An antisense transcript spanning the CGG repeat region of FMR1 is upregulated in premutation carriers but silenced in full mutation individuals

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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.

Journal Article.  8710 words.  Illustrated.

Subjects: Genetics and Genomics

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