Linked Life Data

11448936

Source:http://linkedlifedata.com/resource/pubmed/id/11448936

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
14
pubmed:dateCreated
2001-7-12
pubmed:abstractText
The 5' untranslated CGG repeat in the fragile X mental retardation-1 (FMR1) gene is expanded in families with fragile X syndrome, with more than 200 CGGs resulting in mental retardation due to the absence of the encoded fragile X mental retardation protein (FMRP). Intermediate and premutation alleles, containing between approximately 40 and 200 repeats, express grossly normal FMRP levels and such carriers are widely believed to be non-penetrant, despite continued reports of subtle cognitive/psychosocial impairment and other phenotypes. Using a highly sensitive quantification assay, we demonstrate significantly diminished FMRP levels in carriers, negatively correlated with repeat number. Despite reduced FMRP, these carrier alleles overexpress FMR1, resulting in a positive correlation between repeat number and FMR1 message level. These biochemical deviations associated with intermediate and premutation FMR1 alleles, found in approximately 4% of the population, suggest that the phenotypic spectrum of fragile X syndrome may need to be revisited.
pubmed:grant
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Jul
pubmed:issn
0964-6906
pubmed:author
pubmed:issnType
Print
pubmed:day
1
pubmed:volume
10
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
1449-54
pubmed:dateRevised
2011-11-17
pubmed:meshHeading
pubmed-meshheading:11448936-5' Untranslated Regions, pubmed-meshheading:11448936-Biological Assay, pubmed-meshheading:11448936-Fragile X Mental Retardation Protein, pubmed-meshheading:11448936-Fragile X Syndrome, pubmed-meshheading:11448936-Genetic Linkage, pubmed-meshheading:11448936-Heterozygote, pubmed-meshheading:11448936-Humans, pubmed-meshheading:11448936-Intellectual Disability, pubmed-meshheading:11448936-Male, pubmed-meshheading:11448936-Nerve Tissue Proteins, pubmed-meshheading:11448936-RNA-Binding Proteins, pubmed-meshheading:11448936-Reverse Transcriptase Polymerase Chain Reaction, pubmed-meshheading:11448936-Sensitivity and Specificity, pubmed-meshheading:11448936-Statistics as Topic, pubmed-meshheading:11448936-Transcription, Genetic, pubmed-meshheading:11448936-Trinucleotide Repeats
pubmed:year
2001
pubmed:articleTitle
Reduced FMRP and increased FMR1 transcription is proportionally associated with CGG repeat number in intermediate-length and premutation carriers.
pubmed:affiliation
Howard Hughes Medical Institute, Emory University School of Medicine, Atlanta, GA 30322, USA.
pubmed:publicationType
Journal Article, Research Support, U.S. Gov't, P.H.S., Research Support, Non-U.S. Gov't