Fine structure of the human FMR1 gene.

TitleFine structure of the human FMR1 gene.
Publication TypeJournal Article
Year of Publication1993
AuthorsEichler, EE, Richards, S, Gibbs, RA, Nelson, DL
JournalHum Mol Genet
Date Published1993 Aug
KeywordsAlternative Splicing, Base Sequence, Cloning, Molecular, Cosmids, Exons, Fragile X Mental Retardation Protein, Fragile X Syndrome, Humans, Introns, Molecular Sequence Data, Nerve Tissue Proteins, Oligodeoxyribonucleotides, Polymerase Chain Reaction, Repetitive Sequences, Nucleic Acid, Restriction Mapping, RNA, Messenger, RNA-Binding Proteins, X Chromosome

The fragile X syndrome is due to a CGG triplet expansion in the first exon of FMR1, resulting in hypermethylation and extinction of gene expression. To further our understanding of the gene's involvement in the syndrome, we report the physical structure of this locus. A high resolution restriction map of the FRAX(A) locus has been prepared encompassing approximately 50 kb. Using exon-exon PCR and restriction analysis, the FMR1 gene has been determined to consist of 17 exons spanning 38 kb of Xq27.3. Each intron-exon boundary has been sequenced. In general, the splice donors and acceptors located in the 5' portion of the gene demonstrate greater adherence to consensus than those in the 3' end, providing a possible explanation for the finding of alternative splicing in FMR1. The elucidation of the exon composition of the FMR1 gene and its flanking region will enhance detection of coding sequence mutations possible in fragile X phenocopy individuals.

Alternate JournalHum Mol Genet
PubMed ID8401496
Grant List1 R01-HD29256 / HD / NICHD NIH HHS / United States
CA 94550 / CA / NCI NIH HHS / United States
NCHGR 5P30 HG00210 / HG / NHGRI NIH HHS / United States

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