Linked Life Data

1301165

Source:http://linkedlifedata.com/resource/pubmed/id/1301165

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
8
pubmed:dateCreated
1993-6-3
pubmed:abstractText
The fragile-X syndrome of mental retardation is associated with an expansion in the number of CGG repeats present in the FMR1 gene. The repeat region is within sequences characteristic of a CpG island. Methylation of CpG dinucleotides that are 5' to the CGG repeat has been shown to occur on the inactive X chromosome of normal females and on the X chromosome of affected fragile-X males, and is correlated with silencing of the FMR1 gene. The methylation status of CpG sites 3' to the repeat and within the repeat itself has not previously been reported. We have used two methylation-sensitive restriction enzymes, AciI and Fnu4HI, to further characterize the methylation pattern of the FMR1 CpG island in normal individuals and in those carrying fragile-X mutations. Our results indicate that: (i) CpG dinucleotides on the 3' side of the CGG repeat are part of the CpG island that is methylated during inactivation of a normal X chromosome in females; (ii) the CGG repeats are also part of the CpG island and are extensively methylated as a result of normal X-chromosome inactivation; (iii) similar to normal males, unaffected fragile-X males with small CGG expansions are unmethylated in the CpG island; for affected males, the patterns of methylation are similar to those of a normal, inactive X chromosome; (iv) in contrast to the partial methylation observed for certain sites in lymphocyte DNA, complete methylation was observed in DNA from cell lines containing either a normal inactive X chromosome or a fragile-X chromosome from an affected male.(ABSTRACT TRUNCATED AT 250 WORDS)
pubmed:grant
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Nov
pubmed:issn
0964-6906
pubmed:author
pubmed:issnType
Print
pubmed:volume
1
pubmed:geneSymbol
FMR1
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
571-8
pubmed:dateRevised
2007-11-14
pubmed:meshHeading
pubmed-meshheading:1301165-Animals, pubmed-meshheading:1301165-Base Sequence, pubmed-meshheading:1301165-Cells, Cultured, pubmed-meshheading:1301165-Cricetinae, pubmed-meshheading:1301165-Deoxyribonucleases, Type II Site-Specific, pubmed-meshheading:1301165-Dinucleoside Phosphates, pubmed-meshheading:1301165-Female, pubmed-meshheading:1301165-Fragile X Mental Retardation Protein, pubmed-meshheading:1301165-Fragile X Syndrome, pubmed-meshheading:1301165-Humans, pubmed-meshheading:1301165-Hybrid Cells, pubmed-meshheading:1301165-Male, pubmed-meshheading:1301165-Methylation, pubmed-meshheading:1301165-Molecular Sequence Data, pubmed-meshheading:1301165-Nerve Tissue Proteins, pubmed-meshheading:1301165-Oligonucleotides, pubmed-meshheading:1301165-RNA-Binding Proteins, pubmed-meshheading:1301165-Repetitive Sequences, Nucleic Acid, pubmed-meshheading:1301165-X Chromosome
pubmed:year
1992
pubmed:articleTitle
Methylation analysis of CGG sites in the CpG island of the human FMR1 gene.
pubmed:affiliation
Department of Medicine, University of Washington, Seattle 98195.
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