Abstract
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.
Publication types
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Research Support, Non-U.S. Gov't
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Research Support, U.S. Gov't, Non-P.H.S.
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Research Support, U.S. Gov't, P.H.S.
MeSH terms
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Alleles
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Amino Acid Sequence
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Base Sequence
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Blotting, Northern
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Brain / metabolism
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Cosmids
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DNA / genetics
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DNA / isolation & purification
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Exons
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Fragile X Mental Retardation Protein
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Fragile X Syndrome / genetics*
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Gene Library
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Gene Rearrangement
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Genetic Variation*
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Humans
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Molecular Sequence Data
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Nerve Tissue Proteins / genetics*
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Oligonucleotide Probes
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Polymerase Chain Reaction / methods
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RNA / genetics
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RNA / isolation & purification
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RNA-Binding Proteins*
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Recombination, Genetic
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Repetitive Sequences, Nucleic Acid
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Restriction Mapping
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Translocation, Genetic*
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X Chromosome*
Substances
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FMR1 protein, human
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Nerve Tissue Proteins
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Oligonucleotide Probes
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RNA-Binding Proteins
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Fragile X Mental Retardation Protein
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RNA
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DNA
Associated data
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GENBANK/M60958
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GENBANK/M60959
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GENBANK/M60960
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GENBANK/M60961
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GENBANK/M60962
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GENBANK/M63447
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GENBANK/M64383
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GENBANK/M64384
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GENBANK/M67468
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GENBANK/M86183