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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
5
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pubmed:dateCreated |
1991-7-5
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pubmed:databankReference |
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pubmed:abstractText |
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.
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pubmed:grant |
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
May
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pubmed:issn |
0092-8674
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:day |
31
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pubmed:volume |
65
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pubmed:owner |
NLM
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pubmed:authorsComplete |
N
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pubmed:pagination |
905-14
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pubmed:dateRevised |
2008-11-21
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pubmed:meshHeading |
pubmed-meshheading:1710175-Alleles,
pubmed-meshheading:1710175-Amino Acid Sequence,
pubmed-meshheading:1710175-Base Sequence,
pubmed-meshheading:1710175-Blotting, Northern,
pubmed-meshheading:1710175-Brain,
pubmed-meshheading:1710175-Cosmids,
pubmed-meshheading:1710175-DNA,
pubmed-meshheading:1710175-Exons,
pubmed-meshheading:1710175-Fragile X Mental Retardation Protein,
pubmed-meshheading:1710175-Fragile X Syndrome,
pubmed-meshheading:1710175-Gene Library,
pubmed-meshheading:1710175-Gene Rearrangement,
pubmed-meshheading:1710175-Genetic Variation,
pubmed-meshheading:1710175-Humans,
pubmed-meshheading:1710175-Molecular Sequence Data,
pubmed-meshheading:1710175-Nerve Tissue Proteins,
pubmed-meshheading:1710175-Oligonucleotide Probes,
pubmed-meshheading:1710175-Polymerase Chain Reaction,
pubmed-meshheading:1710175-RNA,
pubmed-meshheading:1710175-RNA-Binding Proteins,
pubmed-meshheading:1710175-Recombination, Genetic,
pubmed-meshheading:1710175-Repetitive Sequences, Nucleic Acid,
pubmed-meshheading:1710175-Restriction Mapping,
pubmed-meshheading:1710175-Translocation, Genetic,
pubmed-meshheading:1710175-X Chromosome
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pubmed:year |
1991
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pubmed:articleTitle |
Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome.
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pubmed:affiliation |
Department of Clinical Genetics, Erasmus University Rotterdam, The Netherlands.
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pubmed:publicationType |
Journal Article,
Research Support, U.S. Gov't, P.H.S.,
Research Support, U.S. Gov't, Non-P.H.S.,
Research Support, Non-U.S. Gov't
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