Human and murine FMR-1: alternative splicing and translational initiation downstream of the CGG-repeat.

Ashley CT, Sutcliffe JS, Kunst CB, Leiner HA, Eichler EE, Nelson DL, Warren ST
Nat Genet. 1993 4 (3): 244-51

PMID: 8358432 · DOI:10.1038/ng0793-244

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.

MeSH Terms (17)

Alternative Splicing Amino Acid Sequence Animals Base Sequence Female Fragile X Syndrome Humans Male Mice Mice, Inbred BALB C Molecular Sequence Data Oligodeoxyribonucleotides Protein Biosynthesis Repetitive Sequences, Nucleic Acid Sequence Homology, Amino Acid Sequence Homology, Nucleic Acid Species Specificity

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