Journal
HUMAN MOLECULAR GENETICS
Volume 16, Issue 24, Pages 3174-3187Publisher
OXFORD UNIV PRESS
DOI: 10.1093/hmg/ddm293
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Funding
- NCI NIH HHS [R01 CA068360, T32 CA09657-14] Funding Source: Medline
- NIAMS NIH HHS [F32 AR052581] Funding Source: Medline
- NICHD NIH HHS [P30 HD002274-35S1] Funding Source: Medline
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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.
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