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Human Molecular Genetics Advance Access first published online on October 6, 2007
This version published online on October 26, 2007
Human Molecular Genetics, doi:10.1093/hmg/ddm293
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© The Author 2007. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oxfordjournals.org

An Antisense Transcript Spanning the CGG Repeat Region of FMR1 is Upregulated in Premutation Carriers but Silenced in Full Mutation Individuals

Paula D. Ladd1, Leslie E. Smith1, Natalia A. Rabaia1, James M. Moore1, Sara A. Georges1, R. Scott Hansen3, Randi J. Hagerman4,5, Flora Tassone4,6, Stephen J. Tapscott1,2,* and Galina N. Filippova1,*

1 Division of Human Biology, Fred Hutchinson Cancer Research Center, Seattle, WA 98109, USA 2 Department of Neurology, University of Washington Medical School, Seattle, WA 98195, USA 3 Department of Medicine, Division of Medical Genetics, University of Washington, Seattle, WA 98195, USA 4 Medical Investigation of Neurodevelopmental Disorders Institute, School of Medicine, University of California-Davis, Sacramento, CA 95817, USA 5 Department of Pediatrics, School of Medicine, University of California-Davis, Sacramento, CA 95817, USA 6 Department of Biochemistry and Molecular Medicine, School of Medicine, University of California-Davis, Sacramento, CA 95817, USA

* Correspondence should be addressed to G. N. F., Fred Hutchinson Cancer Research Center, 1100 Fairview Ave North, Mail Stop C2-023, PO Box 19024, Seattle, WA 98109 Phone: 206-667-4468 Fax: 206-667-6523 Email: gfilippo{at}fhcrc.org or S. J. T. Fred Hutchinson Cancer Research Center, 1100 Fairview Ave North, Mail Stop C3-168, PO Box 19024, Seattle, WA 98109 Phone: 206-667-4499 Fax: 206-667-6524 Email: stapscot{at}fhcrc.org

Received August 5, 2007; Revised October 1, 2007; Accepted October 1, 2007

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.

This paper has been versioned to correct an error identified in the description of the non-consensus splice site used by the antisense transcript. In addition the author name Randy J. Hagerman has been corrected to Randi J. Hagerman


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