Human Molecular Genetics Advance Access originally published online on October 6, 2007
Human Molecular Genetics 2007 16(24):3174-3187; doi: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
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 and 5 Department of Pediatrics, School of Medicine and 6 Department of Biochemistry and Molecular Medicine, School of Medicine, University of California–Davis, Sacramento, CA 95817, USA
* To whom correspondence should be addressed at: Fred Hutchinson Cancer Research Center, 1100 Fairview Avenue North, Mail Stop C2-023, PO Box 19024, Seattle, WA 98109, USA. Tel: +1 2066674468; Fax: +1 2066676523; Email: gfilippo{at}fhcrc.org (G.N.F.) or Fred Hutchinson Cancer Research Center, 1100 Fairview Avenue North, Mail Stop C3-168, PO Box 19024, Seattle, WA 98109, USA. Tel: +1 2066674499; Fax: +1 2066676524; Email: stapscot{at}fhcrc.org (S.J.T.)
Received August 5, 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.
GenBank accession nos EU48200–EU48204
CiteULike 
Connotea 
Del.icio.us What's this?
This article has been cited by other articles:
|
|
 |
|
  K. Usdin The biological effects of simple tandem repeats: Lessons from the repeat expansion diseases Genome Res., July 1, 2008; 18(7): 1011 - 1019. [Abstract] [Full Text] [PDF]
|
|