Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome.

Verkerk AJ, Pieretti M, Sutcliffe JS, Fu YH, Kuhl DP, Pizzuti A, Reiner O, Richards S, Victoria MF, Zhang FP
Cell. 1991 65 (5): 905-14

PMID: 1710175 · DOI:10.1016/0092-8674(91)90397-h

Fragile X syndrome is the most frequent form of inherited mental retardation and is associated with a fragile site at Xq27.3. We identified human YAC clones that span fragile X site-induced translocation breakpoints coincident with the fragile X site. A gene (FMR-1) was identified within a four cosmid contig of YAC DNA that expresses a 4.8 kb message in human brain. Within a 7.4 kb EcoRI genomic fragment, containing FMR-1 exonic sequences distal to a CpG island previously shown to be hypermethylated in fragile X patients, is a fragile X site-induced breakpoint cluster region that exhibits length variation in fragile X chromosomes. This fragment contains a lengthy CGG repeat that is 250 bp distal of the CpG island and maps within a FMR-1 exon. Localization of the brain-expressed FMR-1 gene to this EcoRI fragment suggests the involvement of this gene in the phenotypic expression of the fragile X syndrome.

MeSH Terms (25)

Alleles Amino Acid Sequence Base Sequence Blotting, Northern Brain Cosmids DNA Exons Fragile X Mental Retardation Protein Fragile X Syndrome Gene Library Gene Rearrangement Genetic Variation Humans Molecular Sequence Data Nerve Tissue Proteins Oligonucleotide Probes Polymerase Chain Reaction Recombination, Genetic Repetitive Sequences, Nucleic Acid Restriction Mapping RNA RNA-Binding Proteins Translocation, Genetic X Chromosome

Connections (1)

This publication is referenced by other Labnodes entities: