Document Detail

Methylation analysis of CGG sites in the CpG island of the human FMR1 gene.
MedLine Citation:
PMID:  1301165     Owner:  NLM     Status:  MEDLINE    
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)
R S Hansen; S M Gartler; C R Scott; S H Chen; C D Laird
Related Documents :
17063465 - Common fragile site fra11g and rare fragile site fra11b at 11q23.3 encompass distinct g...
8044655 - Strong founder effect for the fragile x syndrome in sweden.
4040705 - A premutation that generates a defect at crossing over explains the inheritance of frag...
18068635 - Pulmonary vein reentry--properties and size matter: insights from a computational analy...
3629885 - Effects of farrowing crate floors on health and performance of piglets and sows.
22104725 - A world in a grain of sand: human history from genetic data.
Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S.; Research Support, U.S. Gov't, P.H.S.    
Journal Detail:
Title:  Human molecular genetics     Volume:  1     ISSN:  0964-6906     ISO Abbreviation:  Hum. Mol. Genet.     Publication Date:  1992 Nov 
Date Detail:
Created Date:  1993-06-03     Completed Date:  1993-06-03     Revised Date:  2007-11-14    
Medline Journal Info:
Nlm Unique ID:  9208958     Medline TA:  Hum Mol Genet     Country:  ENGLAND    
Other Details:
Languages:  eng     Pagination:  571-8     Citation Subset:  IM    
Department of Medicine, University of Washington, Seattle 98195.
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Base Sequence
Cells, Cultured
Deoxyribonucleases, Type II Site-Specific
Dinucleoside Phosphates / metabolism*
Fragile X Mental Retardation Protein
Fragile X Syndrome / genetics*
Hybrid Cells
Molecular Sequence Data
Nerve Tissue Proteins / genetics*
RNA-Binding Proteins*
Repetitive Sequences, Nucleic Acid
X Chromosome
Grant Support
Reg. No./Substance:
0/Dinucleoside Phosphates; 0/FMR1 protein, human; 0/Nerve Tissue Proteins; 0/Oligonucleotides; 0/RNA-Binding Proteins; 139135-51-6/Fragile X Mental Retardation Protein; 2382-65-2/cytidylyl-3'-5'-guanosine; EC 3.1.21.-/endodeoxyribonuclease AciI; EC 3.1.21.-/endodeoxyribonuclease Fnu4HI; EC, Type II Site-Specific

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

Previous Document:  The organization of the intron-containing human S6 ribosomal protein (rpS6) gene and determination o...
Next Document:  A YAC contig in Xp21 containing the adrenal hypoplasia congenita and glycerol kinase deficiency gene...