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 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.
Publication types
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Research Support, N.I.H., Extramural
MeSH terms
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Alternative Splicing / physiology
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Amino Acid Sequence
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Animals
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Base Sequence
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Binding Sites
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Brain / metabolism
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CCCTC-Binding Factor
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Cells, Cultured
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Cloning, Molecular
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Cricetinae
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DNA-Binding Proteins / metabolism
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Fragile X Mental Retardation Protein / genetics*
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Fragile X Mental Retardation Protein / metabolism
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Gene Silencing / physiology
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Heterozygote*
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Humans
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Mice
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Molecular Sequence Data
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Mutation*
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Open Reading Frames
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Peptides / genetics
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RNA, Antisense / genetics*
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RNA, Antisense / metabolism
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Repressor Proteins / metabolism
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Tissue Distribution
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Trinucleotide Repeats*
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Up-Regulation
Substances
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CCCTC-Binding Factor
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CTCF protein, human
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Ctcf protein, mouse
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DNA-Binding Proteins
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FMR1 protein, human
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Peptides
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RNA, Antisense
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Repressor Proteins
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Fragile X Mental Retardation Protein
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polyproline