| First Author | Ashley CT | Year | 1993 |
| Journal | Nat Genet | Volume | 4 |
| Issue | 3 | Pages | 244-51 |
| PubMed ID | 8358432 | Mgi Jnum | J:12844 |
| Mgi Id | MGI:61062 | Doi | 10.1038/ng0793-244 |
| Citation | Ashley CT, et al. (1993) Human and murine FMR-1: alternative splicing and translational initiation downstream of the CGG-repeat. Nat Genet 4(3):244-51 |
| abstractText | Fragile X syndrome is associated with massive expansion of a CGG trinucleotide repeat within the FMR-1 gene and transcriptional silencing of the gene due to abnormal methylation. Partial cDNA sequence of the human FMR-1 has been reported. We report here the isolation and characterization of cDNA clones encoding the murine homologue, fmr-1, which exhibit marked sequence identity with the human gene, including the conservation of the CGG repeat. A conserved ATG downstream of the CGG repeat in human and mouse and an in-frame stop codon in other human 5' cDNA sequences demarcate the FMR-1 coding region and confine the CGG repeat to the 5' untranslated region. We also present evidence for alternative splicing of the FMR-1 gene in mouse and human brain and show that one of these splicing events alters the FMR-1 reading frame, predicting isoforms with novel carboxy termini. |
