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

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… (More)

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@article{Ladd2007AnAT, title={An antisense transcript spanning the CGG repeat region of FMR1 is upregulated in premutation carriers but silenced in full mutation individuals.}, author={Paula D. Ladd and Leslie E. Smith and Natalia A. Rabaia and James M. Moore and Sara A. Georges and R. Scott Hansen and Randi J. Hagerman and Flora Tassone and Stephen J. Tapscott and Galina N. Filippova}, journal={Human molecular genetics}, year={2007}, volume={16 24}, pages={3174-87} }