Linked Life Data

9302255

Source:http://linkedlifedata.com/resource/pubmed/id/9302255

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
11
pubmed:dateCreated
1998-1-2
pubmed:abstractText
Genomic methylation patterns of mammals can vary among individuals and are subject to dynamic changes during development. In order to gain a better understanding of this variation, we have analyzed patterns of cytosine methylation within a 200 bp region at the CpG island of the human FMR1 gene from leukocyte DNA. FMR1 is normally methylated during inactivation of the X chromosome in females and it is also methylated and inactivated upon expansion of CGG repeats in fragile-X syndrome. Patterns of methylation (epigenotypes) were determined by the sequencing of bisulfite-treated alleles from normal males and females and alleles from a family of five brothers who are methylation mosaics and are affected to various degrees by the fragile-X syndrome. Our data indicate that: (i) methylation of individual CpG cytosines is strikingly variable in hypermethylated epigenotypes obtained from a single individual, suggesting that maintenance of cytosine methylation is a dynamic process; (ii) methylation of non-CpG cytosines in the region studied may occur but is rare; (iii) mosaicism of methylation in the analyzed fragile-X males is remarkably similar to that found for the active X and inactive X alleles in normal females, suggesting that the methylation mosaicism of some fragile-X males reflects similar on and off states of FMR1 expression that exist in normal females; (iv) hypermethylation is slightly more pronounced on fragile-X alleles than on normal inactive X alleles of females; (v) the general dichotomy of hypo- and hypermethylated alleles persisted over the 5 year period that separated samplings of the fragile-X males; (vi) methylation variability was most pronounced at a consensus binding sequence for the alpha-PAL transcription factor, a sequence that may play a role in regulating expression of FMR1.
pubmed:grant
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Oct
pubmed:issn
0964-6906
pubmed:author
pubmed:issnType
Print
pubmed:volume
6
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
1791-801
pubmed:dateRevised
2008-11-21
pubmed:meshHeading
pubmed-meshheading:9302255-Alleles, pubmed-meshheading:9302255-Base Sequence, pubmed-meshheading:9302255-Chromosome Aberrations, pubmed-meshheading:9302255-Cloning, Molecular, pubmed-meshheading:9302255-CpG Islands, pubmed-meshheading:9302255-Cytosine, pubmed-meshheading:9302255-DNA, pubmed-meshheading:9302255-DNA Methylation, pubmed-meshheading:9302255-Female, pubmed-meshheading:9302255-Fragile X Mental Retardation Protein, pubmed-meshheading:9302255-Fragile X Syndrome, pubmed-meshheading:9302255-Genetic Variation, pubmed-meshheading:9302255-Humans, pubmed-meshheading:9302255-Male, pubmed-meshheading:9302255-Molecular Sequence Data, pubmed-meshheading:9302255-Nerve Tissue Proteins, pubmed-meshheading:9302255-Polymerase Chain Reaction, pubmed-meshheading:9302255-Promoter Regions, Genetic, pubmed-meshheading:9302255-RNA-Binding Proteins, pubmed-meshheading:9302255-Sulfites, pubmed-meshheading:9302255-Time Factors, pubmed-meshheading:9302255-X Chromosome
pubmed:year
1997
pubmed:articleTitle
Epigenetic variation illustrated by DNA methylation patterns of the fragile-X gene FMR1.
pubmed:affiliation
Fred Hutchinson Cancer Research Center, Seattle, WA 98109, USA. rstoeger@fred.fhcrc.org or claird@fred.fhcrc.org
pubmed:publicationType
Journal Article, Research Support, U.S. Gov't, P.H.S., Research Support, Non-U.S. Gov't